Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
Open accessAbstract
Angelman syndrome (AS) is a severe neurological disorder caused by a deficiency of ubiquitin protein ligase E3A (UBE3A), but the pathophysiology of the disease remains unknown. We now report that in the brains of AS mice in which the maternal UBE3A allele is mutated (m-) and the paternal allele is potentially inactivated by imprinting (p+) (UBE3A m-\p+), the mitochondria are abnormal and exhibit a partial oxidative phosphorylation (OXPHOS) defect. Electron microscopy of the hippocampal region of the UBE3A m-\p+ mice (n=6) reveals small, dense mitochondria with altered cristae, relative to wild-type littermates (n=6) and reduced synaptic vesicle density. The specific activity of OXPHOS complex III is reduced in whole brain mitochondria in UBE3A m-\p+ (n=5) mice versus wild-type littermates (n=5). Therefore, mitochondrial dysfunction may contribute to the pathophysiology of Angelman syndrome.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In hippocampal CA1 neurons of Ube3am−/p+ mice, presynaptic vesicle density, spine density, and spine length are lower than in wild-type controls.
“Also, the density of presynaptic vesicles, as well as spine density and length, in hippocampal CA1 neurons is lower compared to WT controls [342].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [342]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Wallace, D. C. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.110304.095751 · Cited by 3,185 · see citing works
Self-citationUBIQUITIN-DEPENDENT PROTEIN DEGRADATION
Hochstrasser, M. (1996) · Annual Review of Genetics · doi:10.1146/annurev.genet.30.1.405 · Cited by 1,695 · see citing works
Phenotypic plasticity and the epigenetics of human disease
Feinberg, A. P. (2007) · Nature · doi:10.1038/nature05919 · Cited by 1,613 · see citing works
Jiang, Y.-H., Armstrong, D., Albrecht, U., Atkins, C. M., Noebels, J. L., Eichele, G., Sweatt, J. D., & Beaudet, A. L. (1998) · Neuron · doi:10.1016/s0896-6273(00)80596-6 · Cited by 852 · see citing works
Self-citationTrounce, I. A., Kim, Y. L., Jun, A. S., & Wallace, D. C. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64044-0 · Cited by 749 · see citing works
Self-citationAlbrecht, U., Sutcliffe, J. S., Cattanach, B. M., BEECHEY, C. V., Armstrong, D. L., Gregor Eichele, C., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0997-75 · Cited by 586 · see citing works
The ubiquitin-proteasome pathway: The complexity and myriad functions of proteins death
Ciechanover, A. J., & Schwartz, A. L. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.6.2727 · Cited by 509 · see citing works
The mitochondrial E3 ubiquitin ligase MARCH5 is required for Drp1 dependent mitochondrial division
Karbowski, M., Neutzner, A., & Youle, R. J. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200611064 · Cited by 474 · see citing works
MARCH‐V is a novel mitofusin 2‐ and Drp1‐binding protein able to change mitochondrial morphology
Nakamura, N., Kimura, Y. N., Tokuda, M., Honda, S., & Hirose, S. (2006) · EMBO Reports · doi:10.1038/sj.embor.7400790 · Cited by 419 · see citing works
Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., & Beaudet, A. L. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm288 · Cited by 418 · see citing works
Highwire Restrains Synaptic Growth by Attenuating a MAP Kinase Signal
Collins, C. A., Wairkar, Y. P., Johnson, S. L., & DiAntonio, A. (2006) · Neuron · doi:10.1016/j.neuron.2006.05.026 · Cited by 346 · see citing works
Ube3a is required for experience-dependent maturation of the neocortex
Yashiro, K., Riday, T. T., Condon, K. H., Roberts, A. C., Bernardo, D. R., Prakash, R., Weinberg, R. J., Ehlers, M. D., & Philpot, B. D. (2009) · Nature Neuroscience · doi:10.1038/nn.2327 · Cited by 328 · see citing works
van Woerden, G. M., Harris, K. D., Hojjati, M. R., Gustin, R. M., Qiu, S., de Avila Freire, R., Jiang, Y.-H., Elgersma, Y., & Weeber, E. J. (2007) · Nature Neuroscience · doi:10.1038/nn1845 · Cited by 281 · see citing works
Self-citationWeeber, E. J., Jiang, Y., Elgersma, Y., Varga, A. W., Carrasquillo, Y., Brown, S. E., Christian, J. M., Mirnikjoo, B., Silva, A. J., Beaudet, A. L., et al. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-07-02634.2003 · Cited by 262 · see citing works
Self-citationGene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
Kriaucionis, S., Paterson, A., Curtis, J., Guy, J., MacLeod, N., & Bird, A. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01665-05 · Cited by 219 · see citing works
Nakamura, N., & Hirose, S. (2008) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-11-1103 · Cited by 178 · see citing works
Crozier, R. A., Wang, Y., Liu, C.-H., & Bear, M. F. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0609596104 · Cited by 163 · see citing works
Keating, D. J. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04997.x · Cited by 140 · see citing works
Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors
Heck, D. H., Zhao, Y., Roy, S., LeDoux, M. S., & Reiter, L. T. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn117 · Cited by 124 · see citing works
Escobar‐Henriques, M., Westermann, B., & Langer, T. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200512079 · Cited by 119 · see citing works
Human disorders of ubiquitination and proteasomal degradation
Jiang, Y., & Beaudet, A. L. (2004) · Current Opinion in Pediatrics · doi:10.1097/01.mop.0000133634.79661.cd · Cited by 96 · see citing works
Self-citationCornford, M. E., Philippart, M., Jacobs, B., Scheibel, A. B., & Vinters, H. V. (1994) · Journal of Child Neurology · doi:10.1177/088307389400900419 · Cited by 90 · see citing works
Neutzner, A., & Youle, R. J. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m500807200 · Cited by 89 · see citing works
“Epileptic Neurons” in Temporal Lobe Epilepsy
Yaari, Y., & Beck, H. (2002) · Brain Pathology · doi:10.1111/j.1750-3639.2002.tb00438.x · Cited by 75 · see citing works
Glenn, C. C., Deng, G. Y., Michaelis, R. C., Tarleton, J. C., Phelan, M. C., Surh, L. C., Yang, T. P., & Driscoll, D. J. (2000) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(200004)20:4 · Cited by 70 · see citing works
Rett syndrome: a mitochondrial disease?
Eeg-Olofsson, O., Al-Zuhair, A. G. H., Teebi, A. S., Daoud, A. S., Zaki, M., Besisso, M. S., & Al-Essa, M. M. N. (1990) · Journal of Child Neurology · doi:10.1177/088307389000500311 · Cited by 62 · see citing works
The Overlapping Spectrum of Rett and Angelman Syndromes: A Clinical Review
Jedele, K. B. (2007) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2007.07.002 · Cited by 56 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis
Rossignol, D. A., & Frye, R. E. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.136 · Cited by 913 · see citing works
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works
Energetics, epigenetics, mitochondrial genetics
Wallace, D. C., & Fan, W. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.09.006 · Cited by 507 · see citing works
Self-citationA mitochondrial bioenergetic etiology of disease
Wallace, D. C. (2013) · Journal of Clinical Investigation · doi:10.1172/jci61398 · Cited by 342 · see citing works
Self-citationFrye, R. E., & Rossignol, D. A. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e318212f16b · Cited by 217 · see citing works
Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome
Cao, C., Rioult-Pedotti, M. S., Migani, P., Yu, C. J., Tiwari, R. K., Parang, K., Spaller, M. R., Goebel, D. J., & Marshall, J. J. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001478 · Cited by 170 · see citing works
Metabolic Dysfunction Underlying Autism Spectrum Disorder and Potential Treatment Approaches
Cheng, N., Rho, J. M., & Masino, S. A. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00034 · Cited by 148 · see citing works
Frye, R. E., Rose, S., Slattery, J. M., & MacFabe, D. F. (2015) · Microbial Ecology in Health and Disease · doi:10.3402/mehd.v26.27458 · Cited by 142 · see citing works
Angelman Syndrome, a Genomic Imprinting Disorder of the Brain
Chamberlain, S. J., & Lalande, M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.1728-10.2010 · Cited by 115 · see citing works
Roles of mitochondria in neuronal development
Son, G., & Han, J. (2018) · BMB Reports · doi:10.5483/bmbrep.2018.51.11.226 · Cited by 117 · see citing works
Frye, R. E. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2014.08.134 · Cited by 117 · see citing works
The multifaceted role of mitochondria in autism spectrum disorder
Халиулин, И. Г., Hamoudi, W., & Amal, H. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02725-z · Cited by 122 · see citing works
Ciarlone, S. L., Grieco, J. C., D’Agostino, D. P., & Weeber, E. J. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.08.002 · Cited by 103 · see citing works
Frye, R. E., & Rossignol, D. A. (2016) · Clinical Medicine Insights Pediatrics · doi:10.4137/cmped.s38337 · Cited by 96 · see citing works
Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder
Frye, R. E., Casanova, M. F., Fatemi, S. H., Folsom, T. D., Reutiman, T. J., Brown, G. L., Edelson, S. M., Slattery, J. C., & Adams, J. B. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00192 · Cited by 94 · see citing works
Treatments for Biomedical Abnormalities Associated with Autism Spectrum Disorder
Frye, R. E., & Rossignol, D. A. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00066 · Cited by 90 · see citing works
Santini, E., Turner, K. L., Ramaraj, A. B., Murphy, M. P., Klann, E., & Kaphzan, H. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.2246-15.2015 · Cited by 74 · see citing works
UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease
Lopez, S. J., Segal, D. J., & LaSalle, J. M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00476 · Cited by 71 · see citing works
How Can a Ketogenic Diet Improve Motor Function?
Veyrat‐Durebex, C., Reynier, P., Procaccio, V., Hergesheimer, R. C., Corcia, P., Andres, C. R., & Blasco, H. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00015 · Cited by 72 · see citing works
Self-citationPandya, N. J., Wang, C., Costa, V., Lopatta, P., Meier, S., Zampeta, F. I., Punt, A. M., Mientjes, E., Grossen, P., Distler, T., et al. (2021) · Cell Reports Medicine · doi:10.1016/j.xcrm.2021.100360 · Cited by 71 · see citing works
Angelman syndrome: a journey through the brain
Maranga, C., Fernandes, T. G., Bekman, E., & da Rocha, S. T. (2020) · FEBS Journal · doi:10.1111/febs.15258 · Cited by 73 · see citing works
Next‐generation sequencing for mitochondrial diseases: A wide diagnostic spectrum
Vasta, V., Merritt, J. L., Saneto, R. P., & Hahn, S. H. (2012) · Pediatrics International · doi:10.1111/j.1442-200x.2012.03644.x · Cited by 68 · see citing works
Mitochondria, Bioenergetics, and the Epigenome in Eukaryotic and Human EvolutionPreprint
Wallace, D. C. (2009) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2009.74.031 · Cited by 59 · see citing works
Self-citationRojas-Charry, L., Nardi, L., Methner, A., & Schmeißer, M. J. (2020) · Journal of Molecular Medicine · doi:10.1007/s00109-020-02018-2 · Cited by 59 · see citing works
Possible Metabolic Alterations among Autistic Male Children: Clinical and Biochemical Approaches
Hassan, M. H., Desoky, T., Sakhr, H. M., Gabra, R. H., & Bakri, A. H. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1225-9 · Cited by 56 · see citing works
Mitochondrial and ion channel gene alterations in autism
Smith, M., Flodman, P. L., Gargus, J. J., Simon, M. T., Verrell, K., Haas, R., Reiner, G., Naviaux, R. K., Osann, K., Spence, M. A., et al. (2012) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2012.04.004 · Cited by 54 · see citing works
Self-citationMitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Ortiz-Gonzalez, X. R. (2021) · Developmental Neuroscience · doi:10.1159/000517870 · Cited by 51 · see citing works
Angelman syndrome: Current and emerging therapies in 2016
Tan, W., & Bird, L. M. (2016) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31536 · Cited by 50 · see citing works
A Novel Imprinted Gene NUWA Controls Mitochondrial Function in Early Seed Development in Arabidopsis
He, S., Sun, Y., Yang, Q., Zhang, X., Huang, Q., Zhao, P., Sun, M., Liu, J., Qian, W., Qin, G., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006553 · Cited by 48 · see citing works
Subcellular organization of UBE3A in neurons
Burette, A. C., Judson, M. C., Burette, S., Phend, K. D., Philpot, B. D., & Weinberg, R. J. (2016) · The Journal of Comparative Neurology · doi:10.1002/cne.24063 · Cited by 46 · see citing works
Subcellular organization of UBE3A in human cerebral cortex
Burette, A. C., Judson, M. C., Li, A. N., Chang, E. F., Seeley, W. W., Philpot, B. D., & Weinberg, R. J. (2018) · Molecular Autism · doi:10.1186/s13229-018-0238-0 · Cited by 47 · see citing works
An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes
Yardeni, T., Cristancho, A. G., McCoy, A. J., Schaefer, P. M., McManus, M. J., Marsh, E. D., & Wallace, D. C. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2021429118 · Cited by 44 · see citing works
Self-citationKolář, D., Kletečková, L., Brožka, H., & Valeš, K. (2021) · Neuroscience Letters · doi:10.1016/j.neulet.2021.136003 · Cited by 43 · see citing works
Burger, B., Rose, S., Bennuri, S. C., Gill, P. S., Tippett, M., Delhey, L., Melnyk, S., & Frye, R. (2017) · Frontiers in Pediatrics · doi:10.3389/fped.2017.00219 · Cited by 32 · see citing works
Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder
Frye, R. E., Cakir, J., Rose, S., Palmer, R. F., Austin, C. E., Curtin, P. C. P., & Arora, M. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11030218 · Cited by 38 · see citing works
HECT‐type E3 ubiquitin ligases in nerve cell development and synapse physiology
Ambrozkiewicz, M. C., & Kawabe, H. (2015) · FEBS Letters · doi:10.1016/j.febslet.2015.05.009 · Cited by 31 · see citing works
Bennuri, S. C., Rose, S., & Frye, R. E. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00269 · Cited by 33 · see citing works
Loss of inherited genomic imprints in mice leads to severe disruption in placental lipid metabolism
Himes, K. P., Young, A. N., Koppes, E., Stolz, D. B., Barak, Y., Sadovsky, Y., & Chaillet, J. R. (2015) · Placenta · doi:10.1016/j.placenta.2015.01.012 · Cited by 32 · see citing works
Llewellyn, K. J., Nalbandian, A., Gómez, A. E., Don, W., Walker, N., & Kimonis, V. E. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.01.005 · Cited by 31 · see citing works
Self-citationNovel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation
Simchi, L., Panov, J., Morsy, O., Feuermann, Y., & Kaphzan, H. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9051573 · Cited by 26 · see citing works
Simchi, L., Gupta, P. K., Feuermann, Y., & Kaphzan, H. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02038-7 · Cited by 27 · see citing works
Seizures and Epilepsy in Autism Spectrum Disorder
Besag, F., & Vasey, M. J. (2020) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2020.02.002 · Cited by 25 · see citing works
Correction: Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome
Cao, C., Rioult-Pedotti, M. S., Migani, P., Yu, C. J., Tiwari, R. K., Parang, K., Spaller, M. R., Goebel, D. J., & Marshall, J. (2013) · PLoS Biology · doi:10.1371/annotation/f32bc670-c9cf-4bb0-9376-cd8cfd1053c1 · Cited by 24 · see citing works
Panov, J., Simchi, L., Feuermann, Y., & Kaphzan, H. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21114156 · Cited by 23 · see citing works
A PSD-95 peptidomimetic mitigates neurological deficits in a mouse model of Angelman syndrome
Lau, K. A., Yang, X., Rioult-Pedotti, M. S., Tang, S., Appleman, M., Zhang, J., Tian, Y., Marino, C., Yao, M., Jiang, Q., et al. (2023) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2023.102513 · Cited by 21 · see citing works
Seizures and Epilepsy in Autism Spectrum Disorder
Besag, F., & Vasey, M. J. (2021) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2020.11.005 · Cited by 24 · see citing works
Tonazzini, I., Meucci, S., van Woerden, G. M., Elgersma, Y., & Cecchini, M. G. (2016) · Advanced Healthcare Materials · doi:10.1002/adhm.201500815 · Cited by 19 · see citing works
Autism, Mitochondria and Polybrominated Diphenyl Ether Exposure
Wong, S., & Giulivi, C. (2016) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527315666160413122624 · Cited by 18 · see citing works
Pharmacological therapies for Angelman syndrome
Tan, W., & Bird, L. M. (2016) · Wiener Medizinische Wochenschrift · doi:10.1007/s10354-015-0408-z · Cited by 16 · see citing works
Roy, B., Amemasor, E., Hussain, S., & Castro, K. (2023) · Diseases · doi:10.3390/diseases12010007 · Cited by 14 · see citing works
Leader, G., Gilligan, R., Whelan, S., Coyne, R., Caher, A., White, K., Traina, I., Muchenje, S., Machaka, R. L., & Mannion, A. (2022) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2022.104293 · Cited by 12 · see citing works
Stem cell models of Angelman syndrome
dos Santos, J. C., Appleton, C., Mateus, F. C., Covas, R., Bekman, E., & da Rocha, S. T. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1274040 · Cited by 9 · see citing works
Biagioni, M., Baronchelli, F., & Fossati, M. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106669 · Cited by 7 · see citing works
Armstrong, B. C., LeBoutillier, J. C., & Petit, T. L. (2011) · Synapse · doi:10.1002/syn.21507 · Cited by 7 · see citing works
Neurodevelopmental Underpinnings of Angelman Syndrome
Li, G. (2014) · Journal of Bioanalysis & Biomedicine · doi:10.4172/1948-593x.1000111 · Cited by 6 · see citing works
Wallace, D. C., Lott, M. T., & Procaccio, V. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00013-6 · Cited by 7 · see citing works
Self-citationGupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Molecular Autism · doi:10.1186/s13229-024-00608-2 · Cited by 5 · see citing works
Gupta, P. K., Feuermann, Y., & Kaphzan, H. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106912 · Cited by 5 · see citing works
Mitochondrial Dysfunction in Psychiatric Disorders
Rossignol, D. A., & Frye, R. E. (2014) · Oxidative stress in applied basic research and clinical practice · doi:10.1007/978-1-4939-0440-2_12 · Cited by 5 · see citing works
` Neurodevelopmental Underpinnings of Angelman Syndrome
Qiu, G. L. S. (2014) · OMICS Journal of Radiology · doi:10.4172/2167-7964.1000111 · Cited by 5 · see citing works
Kharrat, M., Triki, C., Maalej, M., Nsir, S. B., Ammar, M., Kammoun, F., & Fakhfakh, F. (2019) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2019.10.002 · Cited by 4 · see citing works
Mitochondrial and metabolic abnormalities in neurodevelopmental disorders
Frye, R. E., & Rossignol, D. A. (2016) · Journal of Pediatric Biochemistry · doi:10.3233/jpb-120059 · Cited by 2 · see citing works
Neuroprotective and Behavioral Benefits of Exogenous Ketone Supplementation-Evoked Ketosis
Kovács, Z., D’Agostino, D. P., & Ari, C. (2022) · Oxford University Press eBooks · doi:10.1093/med/9780197501207.003.0034 · Cited by 2 · see citing works
Kurmashev, R. (2026) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.70025 · Cited by 1 · see citing works
Schuck, J., Bernecker, C., Scheffner, M., & Marx, A. (2025) · ChemBioChem · doi:10.1002/cbic.202400831 · Cited by 1 · see citing works
Induced pluripotent stem cells for modeling Angelman syndrome
Maranga, C., Vieira, A. A., Bekman, E., & da Rocha, S. T. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-85764-2.00015-6 · Cited by 1 · see citing works
Impairment of TrkB-PSD-95 Signaling in
Cao, C., Rioult-Pedott, M. S., Migani, P., & Yu, C. J. (2013)
Frye, R. E., & Rossignol, D. A. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0022
Ciarlone, S. L. (2016) · Digital Commons - University of South Florida (University of South Florida)
KETOGENIC DIET AND GENETIC DIS ORDERS
(2021) · Jurnalul Pediatrului · doi:10.37224/jp.2021.9394.06
Metabolic Therapy for Autism Spectrum Disorder and Comorbidities
Cheng, N., Masino, S. A., & Rho, J. M. (2016) · doi:10.1093/med/9780190497996.003.0014
Natural Compounds and Mitochondrial Function
Khan, M. V., Rumman, M., Rabbani, G., Hussain, M. K., Ahmad, S., & Ahmad, N. (2025) · Springer eBooks · doi:10.1007/978-981-95-0125-0_6
Gupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Figshare · doi:10.6084/m9.figshare.26753323
Gupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Figshare · doi:10.6084/m9.figshare.26753320
Gupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Figshare · doi:10.6084/m9.figshare.26368542
Gupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Figshare · doi:10.6084/m9.figshare.26753326
Gupta, P. K., Barak, S., Feuermann, Y., Goobes, G., & Kaphzan, H. (2024) · Figshare · doi:10.6084/m9.figshare.26367935
Penna, E., Pizzella, A., Abate, N., Conte, N., Cimmino, F., Mollica, M. P., Giaimo, R. D., Baudry, M., Bi, X., & Crispino, M. (2026) · Experimental Neurology · doi:10.1016/j.expneurol.2026.115689
- Authors
- Su, H., Fan, W., Coskun, P. E., Vesa, J., Gold, J.-A., Jiang, Y.-H., Potluri, P., Procaccio, V., Acab, A., Weiss, J. H., Wallace, D. C., & Kimonis, V. E.
- Affiliations
- University of California, Irvine (US)
- Baylor College of Medicine (US)
- Corresponding author
- Kimonis, Virginia E.
- ORCID
- Venue
- Neuroscience Letters
- Publisher
- Elsevier BV
- Published
- 2011-01
- Volume
- 487
- Issue
- 2
- Pages
- 129-133
- ISSN
- 0304-3940 (ISSN-L)
- PMC
- PMC2888840
- OpenAlex
- W2043701381
- Cited by
- 80
- References
- 27
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 8 · 2023: 4 · 2022: 2 · 2021: 8 · 2020: 6 · 2019: 3 · 2018: 4 · 2017: 4 · 2016: 11 · 2015: 5 · 2014: 7 · 2013: 5 · 2012: 2
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neuroscience Letters (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- Rare Diseases Clinical Research Network
- National Institute on Aging (AG 16573, AG-13154, R01AG024373, P50AG016573, AG24373, R01AG013154)
- National Institute of Neurological Disorders and Stroke (NS-21328, NS 41850, R01NS021328, R01NS041850)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR050236)
- National Center for Research Resources (U54RR019478, M01RR000827)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD043494)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Angelman syndrome, UBE3A, mitochondrial dysfunction, hippocampal neurons, CA1, oxidative phosphorylation, cytochrome bc1 complex, mitochondrial cristae, synaptic vesicles, genomic imprinting, mouse model
- MeSH terms
- Animals, Disease Models, Animal, Female, Genotype, Male, Mice, Transgenic, Mitochondria, Neurons, Purkinje Cells, Synaptic Vesicles, Angelman Syndrome, Mice, Knockout, Ubiquitin-Protein Ligases, Mice, CA1 Region, Hippocampal
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
