Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study

STAR: ultrafast universal RNA-seq aligner

Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works

Cutadapt removes adapter sequences from high-throughput sequencing reads

Martin, M. (2011) · EMBnet.journal · doi:10.14806/ej.17.1.200 · Cited by 33,889 · see citing works

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works

The Ensembl Variant Effect Predictor

McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · see citing works

dbSNP: the NCBI database of genetic variation

Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502 · see citing works

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Acevedo Arozena, A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., et al. (2016) · Autophagy · doi:10.1080/15548627.2015.1100356 · Cited by 5,894 · see citing works

Guidelines for the use and interpretation of assays for monitoring autophagy

Klionsky, D. J., Abdalla, F. C., Abeliovich, H., Abraham, R. T., Acevedo-Arozena, A., Adeli, K., Agholme, L., Agnello, M., Agostinis, P., Aguirre-Ghiso, J. A., et al. (2012) · Autophagy · doi:10.4161/auto.19496 · Cited by 3,996 · see citing works

Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

Braak, H., Alafuzoff, I., Arzberger, T., Kretzschmar, H., & Del Tredici, K. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0127-z · Cited by 3,172 · see citing works

Adult hippocampal neurogenesis is abundant in neurologically healthy subjects and drops sharply in patients with Alzheimer’s disease

Moreno-Jiménez, E. P., Flor-García, M., Terreros-Roncal, J., Rábano, A., Cafini, F., Pallas-Bazarra, N., Ávila, J., & Llorens-Martín, M. (2019) · Nature Medicine · doi:10.1038/s41591-019-0375-9 · Cited by 1,577 · cited 2× · see citing works

Prevalence and architecture of de novo mutations in developmental disorders

Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · see citing works

Distinct Tau Prion Strains Propagate in Cells and Mice and Define Different Tauopathies

Sanders, D. W., Kaufman, S. K., DeVos, S. L., Sharma, A. M., Mirbaha, H., Li, A., Barker, S. J., Foley, A. C., Thorpe, J. R., Serpell, L. C., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.04.047 · Cited by 986 · see citing works

The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments

Huggett, J. F., Foy, C. A., Benes, V., Emslie, K., Garson, J. A., Haynes, R., Hellemans, J., Kubista, M., Mueller, R. D., Nolan, T., et al. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.206375 · Cited by 859 · see citing works

Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer’s Disease Not Evident in Mouse Models

Friedman, B. A., Srinivasan, K., Ayalon, G., Meilandt, W. J., Lin, H., Huntley, M. A., Cao, Y., Lee, S.-H., Haddick, P. C. G., Ngu, H., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2017.12.066 · Cited by 662 · cited 7× · see citing works

An EB1-binding motif acts as a microtubule tip localization signal

Honnappa, S., Gouveia, S. M., Weisbrich, A., Damberger, F. F., Bhavesh, N. S., Jawhari, H., Grigoriev, I., van Rijssel, F. J. A., Buey, R. M., Lawera, A., et al. (2009) · Cell · doi:10.1016/j.cell.2009.04.065 · Cited by 611 · see citing works

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics · doi:10.1038/ng.3792 · Cited by 559 · see citing works

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500 · see citing works

Retrovirus-like Gag Protein Arc1 Binds RNA and Traffics across Synaptic Boutons

Ashley, J., Cordy, B., Lucia, D., Fradkin, L. G., Budnik, V., & Thomson, T. (2018) · Cell · doi:10.1016/j.cell.2017.12.022 · Cited by 488 · see citing works

Alzheimer’s Patient Microglia Exhibit Enhanced Aging and Unique Transcriptional Activation

Srinivasan, K., Friedman, B. A., Etxeberria, A., Huntley, M. A., van der Brug, M. P., Foreman, O., Paw, J. S., Modrusan, Z., Beach, T. G., Serrano, G. E., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107843 · Cited by 427 · see citing works

Complete Sequence of a Novel Protein Containing a Femtomolar‐Activity‐Dependent Neuroprotective Peptide

Bassan, M., Zamostiano, R., Davidson, A., Pinhasov, A., Giladi, E., Perl, O., Bassan, H., Blat, C., Gibney, G., Glazner, G. W., et al. (1999) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1999.0721283.x · Cited by 394 · see citing works

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2899 · Cited by 354 · see citing works

DNA repair deficiency in neurodegeneration

Jeppesen, D. K., Bohr, V. A., & Stevnsner, T. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.04.013 · Cited by 349 · see citing works

Microtubule Reduction in Alzheimer's Disease and Aging Is Independent of τ Filament Formation

Cash, A., Aliev, G. M., Siedlak, S. L., Nunomura, A., Fujioka, H., Zhu, X., Raina, A. K., Vinters, H. V., Tabaton, M., Johnson, T., et al. (2003) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)64296-4 · Cited by 309 · see citing works

Davunetide in patients with progressive supranuclear palsy: a randomised, double-blind, placebo-controlled phase 2/3 trial

Boxer, A. L., Lang, A. E., Grossman, M., Knopman, D. S., Miller, B. L., Schneider, L. S., Doody, R. S., Lees, A., Golbe, L. I., Williams, D. R., et al. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70088-2 · Cited by 294 · see citing works

Unconventional Secretion Mediates the Trans-cellular Spreading of Tau

Katsinelos, T., Zeitler, M., Dimou, E., Karakatsani, A., Müller, H., Nachman, E., Steringer, J. P., de Almodóvar, C. R., Nickel, W., & Jahn, T. R. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.04.056 · Cited by 252 · see citing works

Cloning and Characterization of the Human Activity-dependent Neuroprotective Protein

Zamostiano, R., Pinhasov, A., Gelber, E., Steingart, R. A., Seroussi, E., Giladi, E., Bassan, M., Wollman, Y., Eyre, H. J., Mulley, J. C., et al. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m007416200 · Cited by 251 · see citing works

Activity-dependent neuroprotective protein: a novel gene essential for brain formation

Pinhasov, A., Mandel, S., Torchinsky, A., Giladi, E., Pittel, Z., Goldsweig, A. M., Servoss, S. J., Brenneman, D. E., & Gozes, I. (2003) · Developmental Brain Research · doi:10.1016/s0165-3806(03)00162-7 · Cited by 239 · see citing works

Autophagy has a key role in the pathophysiology of schizophrenia

Wagner, A. M., Malishkevich, A., Shemer, Z., Udawela, M., Gibbons, A. S., Scarr, E., Dean, B., Levine, J., Agam, G., & Gozes, I. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.174 · Cited by 236 · see citing works

Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes

Ostapcuk, V., Mohn, F., Carl, S. H., Basters, A., Heß, D., Iešmantavičius, V., Lampersberger, L., Flemr, M., Pandey, A., Thomä, N. H., et al. (2018) · Nature · doi:10.1038/s41586-018-0153-8 · Cited by 221 · see citing works

Activity-Dependent Neuroprotective Protein Snippet NAP Reduces Tau Hyperphosphorylation and Enhances Learning in a Novel Transgenic Mouse Model

Vulih-Shultzman, I., Pinhasov, A., Mandel, S., Grigoriadis, N., Touloumi, O., Pittel, Z., & Gozes, I. (2007) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.107.129551 · Cited by 219 · cited 7× · see citing works

Potential of Low Dose Leuco-Methylthioninium Bis(Hydromethanesulphonate) (LMTM) Monotherapy for Treatment of Mild Alzheimer’s Disease: Cohort Analysis as Modified Primary Outcome in a Phase III Clinical Trial

Wilcock, G. K., Gauthier, S., Frisoni, G. B., Jia, J., Hardlund, J. H., Moebius, H. J., Bentham, P., Kook, K. A., Schelter, B. O., Wischik, D. J., et al. (2017) · Journal of Alzheimer's Disease · doi:10.3233/jad-170560 · Cited by 219 · see citing works

A Neuronal Microtubule-Interacting Agent, NAPVSIPQ, Reduces Tau Pathology and Enhances Cognitive Function in a Mouse Model of Alzheimer’s Disease

Matsuoka, Y., Jouroukhin, Y., Gray, A. J., Ma, L., Hirata‐Fukae, C., Li, H.-F., Feng, L., Lecanu, L., Walker, B. R., Planel, E., et al. (2008) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.107.130526 · Cited by 213 · see citing works

Somatic APP gene recombination in Alzheimer’s disease and normal neurons

Lee, M.-H., Siddoway, B., Kaeser, G. E., Segota, I., Rivera, R., Romanow, W. J., Liu, C. S., Park, C., Kennedy, G., Long, T., et al. (2018) · Nature · doi:10.1038/s41586-018-0718-6 · Cited by 210 · see citing works

Transcriptomics Profiling of Alzheimer’s Disease Reveal Neurovascular Defects, Altered Amyloid-β Homeostasis, and Deregulated Expression of Long Noncoding RNAs

Magistri, M., Velmeshev, D., Makhmutova, M., & Faghihi, M. A. (2015) · Journal of Alzheimer's Disease · doi:10.3233/jad-150398 · Cited by 175 · see citing works

Adult neurogenesis and neurodegenerative diseases: A systems biology perspective

Horgusluoglu, E., Nudelman, K., Nho, K., & Saykin, A. J. (2017) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32429 · Cited by 174 · see citing works

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Dijck, A. V., Silfhout, A. T. V., Cappuyns, E., van der Werf, I. M., Mancini, G. M. S., Tzschach, A., Bernier, R., Gozes, I., Eichler, E. E., Romano, C., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.02.1173 · Cited by 168 · see citing works

Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis

Mandel, S., Rechavi, G., & Gozes, I. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2006.11.039 · Cited by 167 · see citing works

easyFRAP: an interactive, easy-to-use tool for qualitative and quantitative analysis of FRAP data

Rapsomaniki, M., Kotsantis, P., Symeonidou, I.-E., Giakoumakis, N.-N., Taraviras, S. L., & Lygerou, Z. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts241 · Cited by 166 · see citing works

Activity-dependent Neuroprotective Protein Constitutes a Novel Element in the SWI/SNF Chromatin Remodeling Complex

Mandel, S., & Gozes, I. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m704756200 · Cited by 150 · see citing works

The NAP motif of activity-dependent neuroprotective protein (ADNP) regulates dendritic spines through microtubule end binding proteins

Oz, S., Kapitansky, O., Ivashko‐Pachima, Y., Malishkevich, A., Giladi, E., Skalka, N., Rosin‐Arbesfeld, R., Mittelman, L. A., Segev, O., Hirsch, J. A., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.97 · Cited by 142 · see citing works

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain

Scheckel, C., Drapeau, E., Frias, M. A., Park, C. Y., Fak, J., Zucker-Scharff, I., Kou, Y., Haroutunian, V., Ma'ayan, A., Buxbaum, J. D., et al. (2016) · eLife · doi:10.7554/elife.10421 · Cited by 139 · see citing works

Aβ mediates F-actin disassembly in dendritic spines leading to cognitive deficits in Alzheimer's disease

Kommaddi, R. P., Das, D., Karunakaran, S., Nanguneri, S., Bapat, D., Ray, A., Shaw, E., Bennett, D. A., Nair, D., & Ravindranath, V. (2018) · The Journal of Neuroscience · doi:10.1523/jneurosci.2127-17.2017 · Cited by 135 · see citing works

Estimating the Microtubule GTP Cap Size In Vivo

Davidow, D. S., Castle, B. T., McIntyre, A. J., Tran, P. T., & Odde, D. J. (2012) · Current Biology · doi:10.1016/j.cub.2012.06.068 · Cited by 129 · see citing works

SIRT1, miR-132 and miR-212 link human longevity to Alzheimer’s Disease

Hadar, A., Milanesi, E., Walczak, M., Puzianowska‐Kuźnicka, M., Kuźnicki, J., Squassina, A., Niola, P., Chillotti, C., Attems, J., Gozes, I., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-26547-6 · Cited by 123 · see citing works

A Double-Blind, Placebo-Controlled, Ascending-Dose, Randomized Study to Evaluate the Safety, Tolerability and Effects on Cognition of AL-108 after 12 Weeks of Intranasal Administration in Subjects with Mild Cognitive Impairment

Morimoto, B. H., Schmechel, D., Hirman, J., Blackwell, A., Keith, J., Gold, M., & on behalf of the AL-108-211 Study Investigators (2013) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000348347 · Cited by 115 · see citing works

Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies

Malishkevich, A., Amram, N., Hacohen-Kleiman, G., Magen, I., Giladi, E., & Gozes, I. (2015) · Translational Psychiatry · doi:10.1038/tp.2014.138 · Cited by 109 · see citing works

Galectin-8–mediated selective autophagy protects against seeded tau aggregation

Falcon, B., Noad, J., McMahon, H. T., Randow, F., & Goedert, M. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.809293 · Cited by 109 · see citing works

The rescue of microtubule-dependent traffic recovers mitochondrial function in Parkinson's disease

Esteves, A. R., Gozes, I., & Cardoso, S. M. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.10.003 · Cited by 107 · see citing works

Parkinson's disease and Alzheimer's disease: hypersensitivity to X rays in cultured cell lines.

Robbins, J. H., Otsuka, F., Tarone, R. E., Polinsky, R. J., Brumback, R. A., & Nee, L. E. (1985) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.48.9.916 · Cited by 102 · see citing works

ADNP/NAP dramatically increase microtubule end-binding protein–Tau interaction: a novel avenue for protection against tauopathy

Ivashko‐Pachima, Y., Sayas, C. L., Malishkevich, A., & Gozes, I. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.255 · Cited by 102 · see citing works

Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome

Hacohen-Kleiman, G., Sragovich, S., Karmon, G., Gao, A. Y. L., Grigg, I., Pasmanik‐Chor, M., Le, A., Korenková, V., McKinney, R. A., & Gozes, I. (2018) · Journal of Clinical Investigation · doi:10.1172/jci98199 · Cited by 101 · see citing works

Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory

Amram, N., Hacohen-Kleiman, G., Sragovich, S., Malishkevich, A., Katz, J., Touloumi, O., Lagoudaki, R., Grigoriadis, N., Giladi, E., Yeheskel, A., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.208 · Cited by 90 · see citing works

Activity-dependent neuroprotector homeobox protein: A candidate protein identified in serum as diagnostic biomarker for Alzheimer's disease

Yang, M., Yang, Y.-H., Lu, C.-Y., Jong, S.-B., Chen, L.-J., Lin, Y., Wu, S.-J., Chu, P., Chung, T., & Tyan, Y. (2012) · Journal of Proteomics · doi:10.1016/j.jprot.2012.04.017 · Cited by 88 · see citing works

Protein separation at the cellular level by micro disc electrophoresis

Hydén, H., Bjurstam, K., & McEwen, B. S. (1966) · Analytical Biochemistry · doi:10.1016/0003-2697(66)90002-9 · Cited by 86 · see citing works

Review: Somatic mutations in neurodegeneration

Leija‐Salazar, M., Piette, C. E., & Proukakis, C. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12465 · Cited by 84 · see citing works

New horizons in schizophrenia treatment: autophagy protection is coupled with behavioral improvements in a mouse model of schizophrenia

Wagner, A. M., Shemer, Z., Touloumi, O., Lagoudaki, R., Giladi, E., Andrieux, A., Grigoriadis, N., & Gozes, I. (2014) · Autophagy · doi:10.4161/15548627.2014.984274 · Cited by 82 · see citing works

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.06.3056 · Cited by 81 · see citing works

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Gozes, I., Dijck, A. V., Hacohen-Kleiman, G., Grigg, I., Karmon, G., Giladi, E., Eger, M., Gabet, Y., Pasmanik-Chor, M., Cappuyns, E., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.27 · Cited by 74 · see citing works

Erratum: Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Gozes, I., Dijck, A. V., Hacohen-Kleiman, G., Grigg, I., Karmon, G., Giladi, E., Eger, M., Gabet, Y., Pasmanik-Chor, M., Cappuyns, E., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.128 · Cited by 71 · see citing works

HP1 Recruits Activity-Dependent Neuroprotective Protein to H3K9me3 Marked Pericentromeric Heterochromatin for Silencing of Major Satellite Repeats

Mosch, K., Franz, H., Soeroes, S., Singh, P. B., & Fischle, W. (2011) · PLoS ONE · doi:10.1371/journal.pone.0015894 · Cited by 66 · see citing works

Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: Deregulation in schizophrenia

Dresner, E., Agam, G., & Gozes, I. (2010) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2010.06.004 · Cited by 65 · see citing works

ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease

Sragovich, S., Wagner, A. M., & Gozes, I. (2017) · BioEssays · doi:10.1002/bies.201700054 · Cited by 62 · see citing works

Blood-Borne Activity-Dependent Neuroprotective Protein (ADNP) is Correlated with Premorbid Intelligence, Clinical Stage, and Alzheimer’s Disease Biomarkers

Malishkevich, A., Marshall, G. A., Schultz, A. P., Sperling, R. A., Aharon‐Peretz, J., & Gozes, I. (2016) · Journal of Alzheimer s Disease · doi:10.3233/jad-150799 · Cited by 58 · see citing works

Novel Marker for the Onset of Frontotemporal Dementia: Early Increase in Activity-Dependent Neuroprotective Protein (ADNP) in the Face of Tau Mutation

Schirer, Y., Malishkevich, A., Ophir, Y., Lewis, J. M., Giladi, E., & Gozes, I. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087383 · Cited by 57 · see citing works

Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain

Andriani, G. A., Vijg, J., & Montagna, C. (2016) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2016.03.007 · Cited by 55 · see citing works

Soluble Tau has devastating effects on the structural plasticity of hippocampal granule neurons

Bolós, M., Pallas‐Bazarra, N., Terreros‐Roncal, J., Perea, J. R., Jurado‐Arjona, J., Ávila, J., & Llorens-Martı́n, M. (2017) · Translational Psychiatry · doi:10.1038/s41398-017-0013-6 · Cited by 51 · see citing works

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders

Larsen, E., Menashe, I., Ziats, M. N., Pereanu, W., Packer, A. I., & Banerjee‐Basu, S. (2016) · Molecular Autism · doi:10.1186/s13229-016-0103-y · Cited by 50 · see citing works

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

Gozes, I., Patterson, M. C., Dijck, A. V., Kooy, R. F., Peeden, J., Eichenberger, J. A., Zawacki-Downing, A., & Bedrosian‐Sermone, S. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00107 · Cited by 50 · see citing works

EU/US/CTAD TASK FORCE: LESSONS LEARNED FROM RECENT AND CURRENT ALZHEIMER’S PREVENTION TRIALS

Aisen, P. S. S., Touchon, J., Amariglio, R. E., Andrieu, S., Bateman, R. J., Breitner, J. C. S., Donohue, M. A., Dunn, B., Doody, R. S., Fox, N. C., et al. (2017) · The Journal of Prevention of Alzheimer s Disease · doi:10.14283/jpad.2017.13 · Cited by 42 · see citing works

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

Gozes, I., Helsmoortel, C., Vandeweyer, G., der Aa, N. V., Kooy, R. F., & Bedrosian‐Sermone, S. (2015) · Journal of Molecular Neuroscience · doi:10.1007/s12031-015-0586-6 · Cited by 41 · see citing works

NAP (davunetide) preferential interaction with dynamic 3-repeat Tau explains differential protection in selected tauopathies

Ivashko‐Pachima, Y., Maor-Nof, M., & Gozes, I. (2019) · PLoS ONE · doi:10.1371/journal.pone.0213666 · Cited by 40 · see citing works

DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1

Ribeiro-Silva, C., Aydın, Ö. Z., Mesquita-Ribeiro, R., Slyšková, J., Helfricht, A., Marteijn, J. A. F., Hoeijmakers, J. H. J., Lans, H., & Vermeulen, W. (2018) · Nature Communications · doi:10.1038/s41467-018-06402-y · Cited by 38 · see citing works

Alzheimer’s patient brain myeloid cells exhibit enhanced aging and unique transcriptional activationPreprint

Srinivasan, K., Friedman, B. A., Etxeberría, A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/610345 · Cited by 34 · see citing works

Reduction of aluminum ion neurotoxicity through a small peptide application – NAP treatment of Alzheimer's disease

Yang, M., Chen, S.-C., Lin, Y., Lee, Y., Huang, M., Chen, K., Wu, H., Lin, P., Gozes, I., & Tyan, Y. (2019) · Journal of Food and Drug Analysis · doi:10.1016/j.jfda.2018.11.009 · Cited by 33 · see citing works

RGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer’s disease: genome-wide transcriptomic profiling and bioinformatics data mining

Hadar, A., Milanesi, E., Squassina, A., Niola, P., Chillotti, C., Pasmanik-Chor, M., Yaron, O., Pavel Martasek, E., Rehavi, M., Weissglas‐Volkov, D., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.179 · Cited by 31 · see citing works

ADNP, a Microtubule Interacting Protein, Provides Neuroprotection Through End Binding Proteins and Tau: An Amplifier Effect

Gozes, I., Ivashko‐Pachima, Y., & Sayas, C. L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00151 · Cited by 27 · see citing works

ADNP Regulates Cognition: A Multitasking Protein

Gozes, I. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00873 · Cited by 16 · see citing works

FRET and FRAP imaging: Approaches to characterise tau and stathmin interactions with microtubules in cells

Nouar, R., Devred, F., Breuzard, G., & Peyrot, V. (2013) · Biology of the Cell · doi:10.1111/boc.201200060 · Cited by 15 · see citing works

Mechanistic approaches to understand the prion-like propagation of aggregates of the human tau protein

Kumar, H., & Udgaonkar, J. B. (2019) · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · doi:10.1016/j.bbapap.2019.04.004 · Cited by 12 · see citing works

The prevalence and incidence of early‐onset dementia among adults with autism spectrum disorder

Vivanti, G., Tao, S., Lyall, K., Robins, D. L., & Shea, L. (2021) · Autism Research · doi:10.1002/aur.2590 · Cited by 124 · see citing works

The multifaceted role of mitochondria in autism spectrum disorder

Khaliulin, I., Hamoudi, W., & Amal, H. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02725-z · Cited by 123 · see citing works

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

Grigg, I., Ivashko‐Pachima, Y., Hait, T. A., Korenková, V., Touloumi, O., Lagoudaki, R., Dijck, A. V., Marušić, Z., Aničić, M., Vuković, J., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00904-4 · Cited by 99 · see citing works

Infectious origin of Alzheimer’s disease: Amyloid beta as a component of brain antimicrobial immunity

Vojtechova, I., Machacek, T., Kristofikova, Z., Stuchlik, A., & Petrasek, T. (2022) · PLOS Pathogens · doi:10.1371/journal.ppat.1010929 · Cited by 92 · see citing works

A six-attribute classification of geneticmosaicism

Martínez‐Glez, V., Tenorio, J. A., Nevado, J. B., Gordo, G., Rodríguez‐Laguna, L., Feito, M., de Lucas, R., Jurado, L. A. P., Ruiz‐Pérez, V. L., Torrelo, A., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0877-3 · Cited by 86 · see citing works

Neurometabolite levels in the brains of patients with autism spectrum disorders: A meta-analysis of proton magnetic resonance spectroscopy studies (N = 1501)

Du, Y., Chen, L., Yan, M., Wang, Y.-L., Zhong, X.-L., Xv, C.-X., Li, Y.-B., & Cheng, Y. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02079-y · Cited by 87 · see citing works

Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies

Karmon, G., Sragovich, S., Hacohen-Kleiman, G., Ben-Horin-Hazak, I., Kašpárek, P., Schuster, B., Sedláček, R., Pasmanik‐Chor, M., Theotokis, P., Touloumi, O., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.09.018 · Cited by 75 · see citing works

Modeling late-onset Alzheimer’s disease neuropathology via direct neuronal reprogramming

Sun, Z., Kwon, J.-S., Ren, Y., Chen, S., Walker, C. K., Lu, X., Cates, K., Karahan, H., Sviben, S., Fitzpatrick, J. A. J., et al. (2024) · Science · doi:10.1126/science.adl2992 · Cited by 77 · see citing works

Gut Microbiota Composition and Epigenetic Molecular Changes Connected to the Pathogenesis of Alzheimer’s Disease

Nagu, P., Parashar, A., Behl, T., & Mehta, V. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01829-3 · Cited by 64 · see citing works

Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation

Hadar, A., Kapitansky, O., Ganaiem, M., Sragovich, S., Lobyntseva, A., Giladi, E., Yeheskel, A., Avitan, A. K., Vatine, G. D., Gurwitz, D., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01143-9 · Cited by 62 · see citing works

Brain Somatic Mutation in Aging and Alzheimer's Disease

Miller, M. B., Reed, H., & Walsh, C. A. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121520-081242 · Cited by 56 · see citing works

SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism

Ivashko‐Pachima, Y., Ganaiem, M., Ben-Horin-Hazak, I., Lobyntseva, A., Bellaiche, N., Fischer, I., Levy, G., Sragovich, S., Karmon, G., Giladi, E., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01603-w · Cited by 58 · see citing works

Calcium and activity-dependent signaling in the developing cerebral cortex

Arjun McKinney, A., Petrova, R., & Panagiotakos, G. (2022) · Development · doi:10.1242/dev.198853 · Cited by 55 · see citing works

Proteomics of autism and Alzheimer’s mouse models reveal common alterations in mTOR signaling pathway

Mencer, S., Kartawy, M., Lendenfeld, F. V., Soluh, H., Tripathi, M. K., Халиулин, И. Г., & Amal, H. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01578-2 · Cited by 55 · see citing works

Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer’s Disease

Nadeem, M. S., Hosawi, S. B. I., Alshehri, S., Ghoneim, M. M., Imam, S. S., Murtaza, B. N., & Kazmi, I. A. (2021) · Biomolecules · doi:10.3390/biom11111635 · Cited by 56 · see citing works

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations

Hussein, Y., Tripathi, U., Choudhary, A., Nayak, R., Peles, D., Rosh, I., Rabinski, T., Djamus, J., Vatine, G. D., Spiegel, R., et al. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02535-x · Cited by 49 · see citing works

Somatic mutations in neurodegeneration: An update

Proukakis, C. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105021 · Cited by 53 · see citing works

Caspase-cleaved tau is senescence-associated and induces a toxic gain of function by putting a brake on axonal transport

Conze, C., Rierola, M., Trushina, N. I., Peters, M., Janning, D., Holzer, M., Heinisch, J. J., Arendt, T., Bakota, L., & Brandt, R. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01538-2 · Cited by 50 · see citing works

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

D’Incal, C. P., Rossem, K. E. V., Man, K. D., Konings, A., Dijck, A. V., Rizzuti, L., Vitriolo, A., Testa, G., Gozes, I., Berghe, W. V., et al. (2023) · Clinical Epigenetics · doi:10.1186/s13148-023-01450-8 · Cited by 51 · see citing works

DeepDrug as an expert guided and AI driven drug repurposing methodology for selecting the lead combination of drugs for Alzheimer’s disease

Li, V. O. K., Yang, H., Kaistha, T., Zhang, Q., Downey, J., Gozes, I., & Lam, J. C. K. (2025) · Scientific Reports · doi:10.1038/s41598-025-85947-7 · Cited by 57 · see citing works

The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling

Bennison, S. A., Blazejewski, S. M., Liu, X., Hacohen-Kleiman, G., Sragovich, S., Zoidou, S., Touloumi, O., Grigoriadis, N., Gozes, I., & Toyo-oka, K. (2023) · Molecular Psychiatry · doi:10.1038/s41380-022-01939-3 · Cited by 42 · see citing works

The ADNP Syndrome and CP201 (NAP) Potential and Hope

Gozes, I. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.608444 · Cited by 39 · see citing works

CRISPRi-based screen of autism spectrum disorder risk genes in microglia uncovers roles of ADNP in microglia endocytosis and synaptic pruning

Teter, O. M., McQuade, A., Hagan, V., Liang, W., Dräger, N. M., Sattler, S. M., Holmes, B. B., Castillo, V. C., Papakis, V., Leng, K., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02997-z · Cited by 38 · see citing works

Cognitive and brain morphological deviations in middle-to-old aged autistic adults: A systematic review and meta-analysis

Wang, J., Christensen, D., Coombes, S. A., & Wang, Z. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105782 · Cited by 42 · see citing works

Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological processes

Ilieva, M. S., Aldana, B. I., Vinten, K. T., Hohmann, S. S., Woofenden, T. W., Lukjanska, R., Waagepetersen, H. S., & Michel, T. M. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01627-2 · Cited by 37 · see citing works

Cell-Type-Specific Analysis of Molecular Pathology in Autism Identifies Common Genes and Pathways Affected Across Neocortical Regions

Velmeshev, D., Magistri, M., Mazza, E. M. C., Lally, P., Khoury, N., D’Elia, E. R., Bicciato, S., & Faghihi, M. A. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01879-5 · Cited by 39 · see citing works

Long genes are more frequently affected by somatic mutations and show reduced expression in Alzheimer's disease: Implications for disease etiology

Soheili‐Nezhad, S., van der Linden, R. J., Rikkert, M. G. M. O., Sprooten, E., & Poelmans, G. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12211 · Cited by 33 · see citing works

A novel davunetide (NAPVSIPQ Q to NAPVSIPQ E ) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome

Gozes, I., & Shazman, S. (2023) · European Journal of Neuroscience · doi:10.1111/ejn.15920 · Cited by 34 · see citing works

Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain

Costantino, I. M., Nicodemus, J., & Chun, J. J. M. (2021) · Genes · doi:10.3390/genes12071071 · Cited by 33 · see citing works

Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk

Ganaiem, M., Karmon, G., Ivashko‐Pachima, Y., & Gozes, I. (2022) · Cells · doi:10.3390/cells11192994 · Cited by 33 · see citing works

PACAP and NAP: Effect of Two Functionally Related Peptides in Diabetic Retinopathy

D’Amico, A. G., Maugeri, G., Musumeci, G., Reglődi, D., & D’Agata, V. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-020-01769-4 · Cited by 31 · see citing works

NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms

Ganaiem, M., Gildor, N. D., Shazman, S., Karmon, G., Ivashko‐Pachima, Y., & Gozes, I. (2023) · Cells · doi:10.3390/cells12182251 · Cited by 30 · see citing works

Davunetide sex-dependently boosts memory in prodromal Alzheimer’s disease

Gozes, I., Blatt, J., & Lobyntseva, A. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-03118-0 · Cited by 27 · see citing works

Activity-dependent neuroprotective protein (ADNP)-end-binding protein (EB) interactions regulate microtubule dynamics toward protection against tauopathy

Ivashko‐Pachima, Y., & Gozes, I. (2020) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.07.008 · Cited by 25 · see citing works

A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder

Ghafouri‐Fard, S., Pourtavakoli, A., Hussen, B. M., Taheri, M. N., & Ayatollahi, S. A. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03405-9 · Cited by 26 · see citing works

Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women

Gozes, I., Shapira, G., Lobyntseva, A., & Shomron, N. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02618-9 · Cited by 26 · see citing works

Neurotrophin Crosstalk in the Etiology and Treatment of Neuropsychiatric and Neurodegenerative Disease

Joshi, R., & Salton, S. R. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.932497 · Cited by 24 · see citing works

Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living

Levine, J., Hakim, F., Kooy, R. F., & Gozes, I. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-02048-0 · Cited by 23 · see citing works

Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting

Kapitansky, O., Karmon, G., Sragovich, S., Hadar, A., Shahoha, M., Jaljuli, I., Bikovski, L., Giladi, E., Pálovics, R., Iram, T., et al. (2020) · Cells · doi:10.3390/cells9102320 · Cited by 20 · see citing works

ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation

Shapira, G., Karmon, G., Hacohen-Kleiman, G., Ganaiem, M., Shazman, S., Theotokis, P., Grigoriadis, N., Shomron, N., & Gozes, I. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02879-w · Cited by 20 · see citing works

Somatic Mutations and Alzheimer’s Disease

Downey, J. S., Lam, J. C., Li, V., & Gozes, I. (2022) · Journal of Alzheimer's Disease · doi:10.3233/jad-220643 · Cited by 12 · see citing works

Somatic mosaicism in the diseased brain

Iourov, I. Y., Vorsanova, S. G., Куринная, О. С., Kutsev, S. I., & Yurov, Y. B. (2022) · Molecular Cytogenetics · doi:10.1186/s13039-022-00624-y · Cited by 17 · see citing works

Cytoskeleton-modulating nanomaterials and their therapeutic potentials

Park, J.-W., Wu, Y., Kim, J. S., Byun, J., Lee, J., & Oh, Y. (2024) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2024.115362 · Cited by 16 · see citing works

Machine learning on longitudinal multi-modal data enables the understanding and prognosis of Alzheimer’s disease progression

Zhang, S., Yuan, J., Sun, Y., Wu, F., Liu, Z., Zhai, F., Zhang, Y., Somekh, J., Mor Peleg, B., Zhu, Y., et al. (2024) · iScience · doi:10.1016/j.isci.2024.110263 · Cited by 16 · see citing works

Putative Blood Somatic Mutations in Post-Traumatic Stress Disorder-Symptomatic Soldiers: High Impact of Cytoskeletal and Inflammatory Proteins

Sragovich, S., Gershovits, M., Lam, J. C. K., Li, V. O. K., & Gozes, I. (2021) · Journal of Alzheimer s Disease · doi:10.3233/jad-201158 · Cited by 15 · see citing works

Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond

Kapitansky, O., Giladi, E., Jaljuli, I., Bereswill, S., Heimesaat, M. M., & Gozes, I. (2020) · Journal of Neural Transmission · doi:10.1007/s00702-020-02155-5 · Cited by 15 · see citing works

Intranasal NAP (Davunetide): Neuroprotection and circadian rhythmicity

Galushkin, A., & Gozes, I. (2025) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2025.115573 · Cited by 14 · see citing works

Transcriptomic alterations in APP/PS1 mice astrocytes lead to early postnatal axon initial segment structural changes

Benítez, M. J., Retana, D., Ordóñez‐Gutiérrez, L., Colmena, I., Goméz, M. J., Álvarez, R., Ciorraga, M., Dopazo, A., Wandosell, F. G., & Garrido, J. J. (2024) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-024-05485-9 · Cited by 14 · see citing works

STOP Codon Mutations at Sites of Natural Caspase Cleavage Are Implicated in Autism and Alzheimer’s Disease: The Case of ADNP

Gozes, I., & Shazman, S. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.867442 · Cited by 13 · see citing works

Deciphering the Enigma: NAP (CP201) the Active ADNP Drug Candidate Enters Cells by Dynamin-Associated Endocytosis

Ivashko‐Pachima, Y., & Gozes, I. (2020) · Journal of Molecular Neuroscience · doi:10.1007/s12031-020-01632-6 · Cited by 12 · see citing works

Tau, ADNP , and sex

Gozes, I. (2023) · Cytoskeleton · doi:10.1002/cm.21776 · Cited by 11 · see citing works

Editorial: Designing a Protocol Adopting an Artificial Intelligence (AI)–Driven Approach for Early Diagnosis of Late-Onset Alzheimer’s Disease

Li, V. O. K., Lam, J. C. K., Han, Y., Cheung, L. Y. L., Downey, J., Kaistha, T., & Gozes, I. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01865-z · Cited by 11 · see citing works

Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye

Maugeri, G., D’Amico, A. G., Magrì, B., Musumeci, G., & D’Agata, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232113654 · Cited by 10 · see citing works

Can neurodevelopmental disorders influence the course of neurodegenerative diseases? A scoping review

Siguier, P. L. M., Planton, M., Baudou, É., Chaix, Y., Delage, A., Rafiq, M., Wolfrum, M., Gérard, F., Jucla, M., & Pariente, J. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102354 · Cited by 10 · see citing works

Sex and the Brain: Novel ADNP Syndrome Mice Are Protected by NAP

Amal, H. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.03.011 · Cited by 10 · see citing works

Sex-and Region-Dependent Expression of the Autism-Linked ADNP Correlates with Social- and Speech-Related Genes in the Canary Brain

Hacohen-Kleiman, G., Moaraf, S., Kapitansky, O., & Gozes, I. (2020) · Journal of Molecular Neuroscience · doi:10.1007/s12031-020-01700-x · Cited by 10 · see citing works

Quantitative analysis of PACAP-38 and amyloid beta composition using a dual reaction in reduced graphene oxide biosensor to verify the neuroprotective role of PACAP-38

Lee, S., Song, H. R., Park, K., Lee, M., Lee, A.-H., Roh, S. M., Park, Y., Kim, H. J., Kwon, Y., Yang, S., et al. (2022) · Sensors and Actuators B Chemical · doi:10.1016/j.snb.2022.131727 · Cited by 9 · see citing works

Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series

Pascolini, G., Zenzo, G. D., Panebianco, A., Didona, B., & Gozes, I. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63539 · Cited by 8 · see citing works

Discovery of Potential Drug Targeting Key Genes in Alzheimer’s Disease: Insights from Transcriptome Analysis and Molecular Docking

Liu, H., Yang, H. M., You, M., Zhang, S., Huang, S., Tan, X., Liu, Q., Jiang, C., & Xie, L. (2024) · Journal of Molecular Neuroscience · doi:10.1007/s12031-024-02208-4 · Cited by 8 · see citing works

Protective inherited mutations in activity-dependent neuroprotective protein (ADNP): the good, the bad, and the ugly

Gozes, I., Shazman, S., Giladi, E., & Levine, J. (2024) · Genomic psychiatry : · doi:10.61373/gp024r.0079 · Cited by 8 · see citing works

Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males

Levine, J., Lobyntseva, A., Shazman, S., Hakim, F., & Gozes, I. (2024) · Journal of Molecular Neuroscience · doi:10.1007/s12031-024-02189-4 · Cited by 8 · see citing works

DeepDrug: An Expert-led Domain-specific AI-Driven Drug-Repurposing Mechanism for Selecting the Lead Combination of Drugs for Alzheimer’s Disease

Li, V. O., Han, Y., Kaistha, T., Zhang, Q., Downey, J., Gozes, I., & Lam, J. C. (2024) · doi:10.1101/2024.07.06.24309990 · Cited by 8 · see citing works

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Molecular Autism · doi:10.1186/s13229-024-00584-7 · Cited by 7 · see citing works

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain

Maugeri, G., D’Amico, A. G., Federico, C., Saccone, S., D’Agata, V., & Musumeci, G. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25084382 · Cited by 7 · see citing works

Genetic and Environmental Factors Co-Contributing to Behavioral Abnormalities in adnp/adnp2 Mutant Zebrafish

Wang, Y., Sun, X., Xiong, B., Duan, M., & Sun, Y. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25179469 · Cited by 7 · see citing works

Putative Factors Interfering Cell Cycle Re-Entry in Alzheimer’s Disease: An Omics Study with Differential Expression Meta-Analytics and Co-Expression Profiling

Yuen, S. C., Lee, S. M., & Leung, S.-W. (2021) · Journal of Alzheimer s Disease · doi:10.3233/jad-215349 · Cited by 7 · see citing works

Parkinson Disease-Modification Encompassing Rotenone and 6-Hydroxydopamine Neurotoxicity by the Microtubule-Protecting Drug Candidate SKIP

Ivashko‐Pachima, Y., Seroogy, K. B., Sharabi, Y., & Gozes, I. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01876-w · Cited by 7 · see citing works

Use of biomarkers in the diagnosis of Alzheimer’s disease in adults with intellectual disability

McFeely, A., O’Connor, A., & Kennelly, S. (2024) · The Lancet Healthy Longevity · doi:10.1016/j.lanhl.2024.100639 · Cited by 6 · see citing works

Systemic davunetide provides sex-specific neuroprotection during Coronary Artery Bypass Grafting (CABG)

Gozes, I., Blatt, J., & Guz, L. S. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03675-y · Cited by 5 · see citing works

Pathophysiologic similarities between autism spectrum disorder and Alzheimer's disease: therapeutic possibilities

Phillips, W. T., Sheesley, A. P., & Schwartz, J. G. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1737007 · Cited by 5 · see citing works

Sex-Specific ADNP/NAP (Davunetide) Regulation of Cocaine-Induced Plasticity

Toren, Y., Ziv, Y., Sragovich, S., McKinney, R. A., Barak, S., Shazman, S., & Gozes, I. (2024) · Journal of Molecular Neuroscience · doi:10.1007/s12031-024-02234-2 · Cited by 5 · see citing works

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

Grice, A. B., Sloofman, L. G., Levy, T., Walker, H., Ganesh, G., Santos, M. R. D. L., Amini, P., Buxbaum, J. D., Kolevzon, A. L., Kostić, A., et al. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-03005-8 · Cited by 5 · see citing works

LncRNA functional annotation with improved false discovery rate achieved by disease associations

Wang, Y., Zhai, J., Wu, X., Adu‐Gyamfi, E. A., Yang, L., Liu, T., Wang, M., Ding, Y., Zhu, F., Wang, Y., et al. (2021) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2021.12.016 · Cited by 5 · see citing works

Extremely Low‐Frequency and Low‐Intensity Electromagnetic Field Technology (ELF‐EMF) Sculpts Microtubules

Lobyntseva, A., Ganaiem, M., Ivashko‐Pachima, Y., Barnstable, C. J., Weisinger, B., Parabucki, A., Segal, Y., Shohami, E., & Gozes, I. (2025) · European Journal of Neuroscience · doi:10.1111/ejn.70023 · Cited by 4 · see citing works

From circadian sleep disruption to Neuroprotection: The potential of VIP/PACAP in Alzheimer’s disease treatment

Galushkin, A., & Gozes, I. (2024) · Current Research in Biotechnology · doi:10.1016/j.crbiot.2024.100254 · Cited by 4 · see citing works

Molecular Subgroup Classification in Alzheimer’s Disease by Transcriptomic Profiles

Liu, S., Lu, Y., & Geng, D. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01957-w · Cited by 4 · see citing works

The search for a link between autism spectrum disorder and neurodegenerative dementia

Fumagalli, G., & Crippa, A. (2022) · Minerva Psychiatry · doi:10.23736/s2724-6612.22.02370-3 · Cited by 3 · see citing works

A novel genomic mutation in ADNP leading to intellectual disability

Gozes, I. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01387-9 · Cited by 2 · see citing works

Profiles of women in science: Illana Gozes, Professor Emerita of Clinical Biochemistry, Tel Aviv University

Helmreich, D. L. (2023) · European Journal of Neuroscience · doi:10.1111/ejn.16061 · Cited by 1 · see citing works

Changes in transcriptional regulation in the temporal lobe in patients with Alzheimer's disease

Yang, Y., Li, Y., & Chen, Y. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251322536 · Cited by 1 · see citing works

Aging ADNP syndrome mice exhibit mutation/sex-dependent disruption of motor behavior and circadian rhythmicity

Galushkin, A., Giladi, E., & Gozes, I. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107509 · Cited by 1 · see citing works

Opposite molecular sex correlations in tauopathy paralleled by motor and cognitive efficacy of davunetide in women

Shapira, G., Blatt, J., Guz, L. S., Shomron, N., & Gozes, I. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03709-x · Cited by 1 · see citing works

Molecular Mechanisms of Cognitive Impairment and Intellectual Disability—Virtual ESN Mini-Conference in Conjunction with the FENS Forum, July 11–15, 2020

Gozes, I., Nalivaeva, N. N., Hirrlinger, J., Blumrich, E., & Turner, A. J. (2020) · Journal of Molecular Neuroscience · doi:10.1007/s12031-020-01718-1 · Cited by 1 · see citing works

Surprising sex differences indicate davunetide-mediated brain protection and clinical efficacy in women suffering from progressive supranuclear palsyPreprint

Gozes, I., Shapira, G., Lobyntseva, A., & Shomron, N. (2023) · Research Square · doi:10.21203/rs.3.rs-2457393/v1 · Cited by 1 · see citing works

14-3-3 shuttles Activity-dependent neuroprotective protein to the cytoplasm to promote appropriate neuronal morphogenesis, cortical connectivity and calcium signalingPreprint

Bennison, S. A., Blazejewski, S. M., Liu, X., & Toyo‐oka, K. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.26.105015

Advances in autism research, 2021: continuing to decipher the secrets of autism

Licinio, J., & Wong, M. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01168-0

From the Desk of the Editor‑in‑Chief: Excerpts from the Society for Neurochemistry (ESN) Future Perspectives for European Neurochemistry Highlighting the Symposium Asking “Autism, Epilepsy, Intellectual Disability Where Do These All Meet?”

Gozes, I. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-02045-3

Machine learning on longitudinal multi-modal data enabling the understanding and prognosis of Alzheimer’s disease progressionPreprint

Zhang, S., Yuan, J., Sun, Y., Wu, F., Liu, Z., Zhai, F., Zhang, Y., Somekh, J., Mor Peleg, B., Zhu, Y., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2924370/v1

An experimental framework for conjoint measures of olfaction, navigation, and motion as pre-clinical biomarkers of Alzheimer's disease

Biljman, K., Gozes, I., Lam, J. C. K., & Li, V. O. K. (2024) · Journal of Alzheimer s Disease Reports · doi:10.1177/25424823241307617

VEGFB is a potential therapeutic target for Alzheimer's disease: Insights from integrative multi-omics analysis

Ye, H., Zhuang, C., Jin, Z., Hu, Y., He, J., Yu, Q., Hu, H., & Zheng, Y. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251385244

Additional file 6 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671164

Additional file 7 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671167

Additional file 1 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25045444

Additional file 8 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671170

Additional file 4 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671158

Additional file 5 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671161

Additional file 2 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25045696

Additional file 3 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671155

Additional file 9 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Ge, C., Tian, Y., Hu, C., Mei, L., Li, D., Dong, P., Zhang, Y., Li, H., Sun, D., Peng, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26671173

Diminished activity-dependent neuroprotective protein (ADNP) contributes to complement gene elevation in Alzheimer's disease

Ren, Y., Saleem, K., Patel, P. J., Lee, Y.-H., Feng, J., & Yan, Z. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877261427770

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

Grigg, I., Ivashko‐Pachima, Y., Hait, T. A., Korenková, V., Touloumi, O., Lagoudaki, R., Dijck, A. V., Marušić, Z., Aničić, M., Vuković, J., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00904-4 · Cited by 99 · see citing works

A novel genomic mutation in ADNP leading to intellectual disability

Gozes, I. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01387-9 · Cited by 2 · see citing works

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

Gozes, I., Helsmoortel, C., Vandeweyer, G., der Aa, N. V., Kooy, R. F., & Bedrosian‐Sermone, S. (2015) · Journal of Molecular Neuroscience · doi:10.1007/s12031-015-0586-6 · Cited by 41 · see citing works

Brain somatic mutations in Alzheimer’s disease: linking genetic mosaicism to neurodegeneration

Li, Z., Zhang, J., Liu, Z., Yu, L., Yang, C., Zhang, L., Xiang, Z., Hu, F., Brazh, N., Shu, K., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00895-0 · Cited by 4 · see citing works

First‐of‐its‐kind identification of two novel tau mutations associated with cognitive resilience to Alzheimer’s disease neuropathology

Jamison, D., & Taglialatela, G. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.095561