Mutant valosin‐containing protein causes a novel type of frontotemporal dementia

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391 · see citing works

Demonstration of amyloid deposits and neurofibrillary changes in whole brain sections

Braak, H., & Braak, E. (1991) · Brain Pathology · doi:10.1111/j.1750-3639.1991.tb00661.x · Cited by 598 · see citing works

AAA-ATPase p97/Cdc48p, a Cytosolic Chaperone Required for Endoplasmic Reticulum-Associated Protein Degradation

Rabinovich, E., Kerem, A., Fröhlich, K., Diamant, N., & Bar‐Nun, S. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.2.626-634.2002 · Cited by 546 · see citing works

Monoclonal antibody PHF‐1 recognizes tau protein phosphorylated at serine residues 396 and 404

Otvos, L., Feiner, L., Lang, E., Szendrei, G. I., Goedert, M., & Lee, V. M. (1994) · Journal of Neuroscience Research · doi:10.1002/jnr.490390607 · Cited by 488 · see citing works

A complex of mammalian Ufd1 and Npl4 links the AAA‐ATPase, p97, to ubiquitin and nuclear transport pathways

Meyer, H. H., Shorter, J., Seemann, J., Pappin, D., & Warren, G. (2000) · The EMBO Journal · doi:10.1093/emboj/19.10.2181 · Cited by 446 · see citing works

Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation

Dai, R. M., & Li, C.-C. H. (2001) · Nature Cell Biology · doi:10.1038/35087056 · Cited by 437 · see citing works

p47 is a cofactor for p97-mediated membrane fusion

Kondo, H., Rabouille, C., Newman, R., Levine, T. P., Pappin, D., Freemont, P. S., & Warren, G. (1997) · Nature · doi:10.1038/40411 · Cited by 437 · see citing works

Involvement of Valosin-containing Protein, an ATPase Co-purified with IκBα and 26 S Proteasome, in Ubiquitin-Proteasome-mediated Degradation of IκBα

Dai, R., Chen, E., Longo, D. L., Gorbea, C. M., & Li, C.-C. H. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.6.3562 · Cited by 315 · see citing works

Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly

Hetzer, M. W., Meyer, H. H., Walther, T. C., Bilbao, D., Warren, G., & Mattaj, I. W. (2001) · Nature Cell Biology · doi:10.1038/ncb1201-1086 · Cited by 311 · see citing works

A Conformation‐ and Phosphorylation‐Dependent Antibody Recognizing the Paired Helical Filaments of Alzheimer's Disease

Jicha, G. A., Lane, E., Vincent, I. J., Ötvös, L., Hoffmann, R., & Davies, P. (1997) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1997.69052087.x · Cited by 264 · see citing works

VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration

Hirabayashi, M., Inoue, K., Tanaka, K., Nakadate, K., Ohsawa, Y., Kamei, Y., Popiel, A. H., Shinohara, A., Iwamatsu, A., Kimura, Y., et al. (2001) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4400907 · Cited by 258 · see citing works

Syntaxin 5 Is a Common Component of the NSF- and p97-Mediated Reassembly Pathways of Golgi Cisternae from Mitotic Golgi Fragments In Vitro

Rabouille, C., Kondo, H., Newman, R., Hui, N., Freemont, P. S., & Warren, G. (1998) · Cell · doi:10.1016/s0092-8674(00)81128-9 · Cited by 256 · see citing works

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders

Cochran, E. J. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.2.182 · Cited by 215 · see citing works

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22

Rosso, S. M. (2001) · Brain · doi:10.1093/brain/124.10.1948 · Cited by 158 · see citing works

Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions

Woulfe, J., KERTESZ, A. E., & Muñoz, D. G. (2001) · Acta Neuropathologica · doi:10.1007/s004010000346 · Cited by 96 · see citing works

The Amount and Distribution of Pigments in Neurons and Glia of the Cerebral Cortex. Autofluorescent and Ultrastructural Studies

Brizzee, K. R., Cancilla, P. A., Sherwood, N. M., & Timiras, P. S. (1969) · Journal of Gerontology · doi:10.1093/geronj/24.2.127 · Cited by 64 · see citing works

Plectin in the human central nervous system: predominant expression at pia/glia and endothelia/glia interfaces

Lie, A. A., Schröder, R., Blümcke, I., Magin, T. M., Wiestler, O. D., & Elger, C. E. (1998) · Acta Neuropathologica · doi:10.1007/s004010050885 · Cited by 33 · see citing works

Tau antigenic changes induced by glutamate in rat primary culture model: a biochemical approach.

Sautiére, P., Sindou, P., Couratier, P., Hugon, J., Wattez, A., & Delacourte, A. (1992) · Neuroscience Letters · doi:10.1016/0304-3940(92)90104-f · Cited by 31 · see citing works

Neuronal Intranuclear Inclusions Distinguish Familial FTD-MND Type from Sporadic Cases

Mackenzie, I. R., & Feldman, H. (2004) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000077166 · Cited by 23 · see citing works

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., et al. (2006) · Nature · doi:10.1038/nature05017 · Cited by 1,512 · see citing works

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235 · see citing works

Frontotemporal dementia

Neary, D., Snowden, J. S., & Mann, D. M. A. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70223-4 · Cited by 539 · see citing works

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

Ju, J.-S., Fuentealba, R. A., Miller, S. E., Jackson, E., Piwnica-Worms, D., Baloh, R. H., & Weihl, C. C. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200908115 · Cited by 494 · see citing works

Interactions of pathological proteins in neurodegenerative diseases

Spires‐Jones, T. L., Attems, J., & Thal, D. R. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1709-7 · Cited by 424 · see citing works

TDP-43 in the Ubiquitin Pathology of Frontotemporal Dementia With VCP Gene Mutations

Neumann, M., Mackenzie, I. R., Cairns, N. J., Boyer, P. J., Markesbery, W. R., Smith, C. D., Taylor, J. P., Kretzschmar, H. A., Kimonis, V. E., & Forman, M. S. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31803020b9 · Cited by 326 · see citing works

Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

Mackenzie, I. R., Baborie, A., Pickering-Brown, S. M., du Plessis, D., Jaros, E., Perry, R. H., Neary, D., Snowden, J. S., & Mann, D. M. A. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0138-9 · Cited by 322 · see citing works

Pathological Heterogeneity of Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions Delineated by Ubiquitin Immunohistochemistry and Novel Monoclonal Antibodies

Sampathu, D. M., Neumann, M., Kwong, L. K., Chou, T. T. T., Micsenyi, M. C., Truax, A. C., BRUCE, J. S., Grossman, M., Trojanowski, J. Q., & Lee, V. M. ‐. (2006) · American Journal Of Pathology · doi:10.2353/ajpath.2006.060438 · Cited by 317 · see citing works

The genetics and neuropathology of frontotemporal lobar degeneration

Sieben, A., Van Langenhove, T., Engelborghs, S., Martin, J.-J., Boon, P., Cras, P., De Deyn, P.-P., Santens, P., Van Broeckhoven, C., & Cruts, M. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1029-x · Cited by 280 · see citing works

FTD and ALS: A Tale of Two Diseases

Ferrari, R., Kapogiannis, D., Huey, E. D., & Momeni, P. (2011) · Current Alzheimer Research · doi:10.2174/156720511795563700 · Cited by 270 · see citing works

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

Weihl, C. C., Pestronk, A., & Kimonis, V. E. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.01.009 · Cited by 236 · see citing works

TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease

Kwong, L. K., Neumann, M., Sampathu, D. M., Lee, V. M. ‐., & Trojanowski, J. Q. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0226-5 · Cited by 231 · see citing works

Novel Ubiquitin Neuropathology in Frontotemporal Dementia WithValosin-Containing ProteinGene Mutations

Forman, M. S., Mackenzie, I. R., Cairns, N. J., Swanson, E., Boyer, P. J., Drachman, D. A., Jhaveri, B. S., Karlawish, J. H., Pestronk, A., Smith, T. W., et al. (2006) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-200606000-00005 · Cited by 226 · see citing works

The mitochondrial pathway in yeast apoptosis

Eisenberg, T., Büttner, S., Kroemer, G., & Madeo, F. (2007) · APOPTOSIS · doi:10.1007/s10495-007-0758-0 · Cited by 229 · see citing works

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

Kimonis, V. E., Fulchiero, E. C., Vesa, J., & Watts, G. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.09.003 · Cited by 227 · see citing works

Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease

Nedelsky, N. B., & Taylor, J. P. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0157-5 · Cited by 199 · see citing works

Autophagy and ALS: mechanistic insights and therapeutic implications

Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189 · see citing works

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

Weihl, C. C., Dalal, S. R., Pestronk, A., & Hanson, P. I. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi426 · Cited by 195 · see citing works

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Kimonis, V. E., Mehta, S. G., Fulchiero, E. C., Thomasová, D., Pasquali, M., Boycott, K. M., Neilan, E. G., Kartashov, A. I., Forman, M. S., Tucker, S., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31862 · Cited by 174 · see citing works

Pathological consequences of VCP mutations on human striated muscle

Hubbers, C. U., Clemen, C. S., Kesper, K., Boddrich, A., Hofmann, A., Kamarainen, O., Tolksdorf, K., Stumpf, M., Reichelt, J., Roth, U., et al. (2007) · Brain · doi:10.1093/brain/awl238 · Cited by 170 · see citing works

Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice

Klein, Z. A., Takahashi, H., Ma, M., Stagi, M., Zhou, M. S., Lam, T. T., & Strittmatter, S. M. (2017) · Neuron · doi:10.1016/j.neuron.2017.06.026 · Cited by 161 · see citing works

An arginine/lysine‐rich motif is crucial for VCP/p97‐mediated modulation of ataxin‐3 fibrillogenesis

Boeddrich, A., Gaumer, S., Haacke, A., Tzvetkov, N., Albrecht, M., Evert, B. O., Müller, E. C., Lurz, R., Breuer, P., Schugardt, N., et al. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601043 · Cited by 156 · see citing works

Valosin-containing protein gene mutations

Guyant‐Maréchal, L., Laquerrière, A., Duyckaerts, C. J., Dumanchin‐Njock, C., Bou, J., Dugny, F., Ber, I. L., Frébourg, T., Hannequin, D., & Campion, D. (2006) · Neurology · doi:10.1212/01.wnl.0000225184.14578.d3 · Cited by 151 · see citing works

A novel ATP‐dependent conformation in p97 N–D1 fragment revealed by crystal structures of disease‐related mutants

Tang, W. K., Li, D., Li, C.-C., Esser, L., Dai, R., Guo, L., & Xia, D. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.104 · Cited by 143 · see citing works

Impaired Protein Aggregate Handling and Clearance Underlie the Pathogenesis of p97/VCP-associated Disease

Ju, J.-S., Miller, S., Hanson, P. I., & Weihl, C. C. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m805517200 · Cited by 140 · see citing works

Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation

Shi, J., Shaw, C. L., du Plessis, D., Richardson, A. M. T., Bailey, K. L., Julien, C. L., Stopford, C. L., Thompson, J. C., Varma, A. R., Craufurd, D., et al. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1079-4 · Cited by 139 · see citing works

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

Nalbandian, A., Donkervoort, S. C., Dec, E., Badadani, M., Katheria, V., Rana, P., Nguyen, C. C., Mukherjee, J., Caiozzo, V. J., Martin, B., et al. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-011-9627-y · Cited by 137 · see citing works

TDP-43 Proteinopathies: Neurodegenerative Protein Misfolding Diseases without Amyloidosis

Kwong, L. K., Uryu, K., Trojanowski, J. Q., & Lee, V. M. ‐. (2007) · Neurosignals · doi:10.1159/000109758 · Cited by 127 · see citing works

TDP-43: a novel neurodegenerative proteinopathy

Forman, M. S., Trojanowski, J. Q., & Lee, V. M. ‐. (2007) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2007.08.005 · Cited by 127 · see citing works

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

Badadani, M., Nalbandian, A., Watts, G. D. J., Vesa, J., Kitazawa, M., Su, H., Tanaja, J., Dec, E., Wallace, D. C., Mukherjee, J., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013183 · Cited by 122 · see citing works

The ubiquitin-proteasome system in cardiac proteinopathy: a quality control perspective

Su, H., & Wang, X. (2009) · Cardiovascular Research · doi:10.1093/cvr/cvp287 · Cited by 114 · see citing works

Hereditary Inclusion Body Myopathy-Linked p97/VCP Mutations in the NH2 Domain and the D1 Ring Modulate p97/VCP ATPase Activity and D2 Ring Conformation

Halawani, D., LeBlanc, A. C., Rouiller, I., Michnick, S. W., Servant, M. J., & Latterich, M. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00252-09 · Cited by 111 · see citing works

Genotype–phenotype studies of VCP ‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Mehta, S. G., Khare, M., Ramani, R. G., Watts, G., Simon, M. T., Osann, K., Donkervoort, S. C., Dec, E., Nalbandian, A., Platt, J., et al. (2012) · Clinical Genetics · doi:10.1111/cge.12000 · Cited by 108 · see citing works

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

Haubenberger, D., Bittner, R. E., Shorny, S., Zimprich, F., Mannhalter, C., Wagner, L., Mineva, I., Vass, K., Auff, E., & Zimprich, A. A. (2005) · Neurology · doi:10.1212/01.wnl.0000180407.15369.92 · Cited by 108 · see citing works

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

Weihl, C. C., Miller, S., Hanson, P. I., & Pestronk, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm037 · Cited by 103 · see citing works

Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions

Mishra, M., Paunesku, T., Woloschak, G. E., Siddique, T., Zhu, L., Lin, S., Greco, K., & Bigio, E. H. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0240-7 · Cited by 84 · see citing works

Mutations in the Human AAA+ Chaperone p97 and Related Diseases

Tang, W. K., & Xia, D. (2016) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2016.00079 · Cited by 97 · see citing works

Mechanisms of Cdc48/VCP-mediated cell death — from yeast apoptosis to human disease

Braun, R. J., & Zischka, H. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.01.015 · Cited by 98 · see citing works

The triple power of D³: Protein intrinsic disorder in degenerative diseases

Uversky, V. N. (2014) · Frontiers in bioscience · doi:10.2741/4204 · Cited by 90 · see citing works

Enhanced ATPase activities as a primary defect of mutant valosin‐containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Manno, A., Noguchi, M., Fukushi, J., Motohashi, Y., & Kakizuka, A. (2010) · Genes to Cells · doi:10.1111/j.1365-2443.2010.01428.x · Cited by 88 · see citing works

Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress

Woulfe, J. (2007) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2006.00819.x · Cited by 88 · see citing works

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease

Talbot, K., & Ansorge, O. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl202 · Cited by 88 · see citing works

The AAA+ chaperone VCP disaggregates Tau fibrils and generates aggregate seeds in a cellular system

Saha, I., Yuste‐Checa, P., Padilha, M. D. S., Guo, Q., Körner, R., Holthusen, H., Trinkaus, V. A., Dudanova, I., Fernández‐Busnadiego, R., Baumeister, W. P., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36058-2 · Cited by 87 · see citing works

Crucial Mitochondrial Impairment upon CDC48 Mutation in Apoptotic Yeast

Braun, R. J., Zischka, H., Madeo, F., Eisenberg, T., Wissing, S., Büttner, S., Engelhardt, S. M., Büringer, D., & Ueffing, M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m513699200 · Cited by 82 · see citing works

AAA ATPase p97/VCP: cellular functions, disease and therapeutic potential

Vij, N. (2008) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2008.00462.x · Cited by 82 · see citing works

VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation

Shih, Y., & Hsueh, Y. (2016) · Nature Communications · doi:10.1038/ncomms11020 · Cited by 82 · see citing works

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments

Mackenzie, I. R., & Rademakers, R. (2007) · Neurogenetics · doi:10.1007/s10048-007-0102-4 · Cited by 81 · see citing works

Valosin-containing protein and neurofibromin interact to regulate dendritic spine density

Wang, H.-F., Shih, Y.-T., Chen, C.-Y., Chao, H.-W., Lee, M.-J., & Hsueh, Y.-P. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45677 · Cited by 80 · see citing works

The genetics of neurodegenerative diseases

Hardy, J., & Orr, H. T. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2006.03979.x · Cited by 78 · see citing works

The molecular basis of frontotemporal dementia

Neumann, M., Tolnay, M., & Mackenzie, I. R. (2009) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399409001136 · Cited by 77 · see citing works

TDP-43 pathology: From noxious assembly to therapeutic removal

Keating, S. S., Gil, R. S., Swanson, M. E. V., Scotter, E. L., & Walker, A. K. (2022) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2022.102229 · Cited by 74 · see citing works

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus‐Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., et al. (2010) · Brain · doi:10.1093/brain/awq222 · Cited by 75 · see citing works

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

Nalbandian, A., Llewellyn, K. J., Kitazawa, M., Yin, H. Z., Badadani, M., Khanlou, N., Edwards, R., Nguyen, C., Mukherjee, J., Mozaffar, T., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046308 · Cited by 68 · see citing works

Impaired protein degradation in FTLD and related disorders

Götzl, J. K., Lang, C. M., Haass, C., & Capell, A. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.008 · Cited by 70 · see citing works

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Bersano, A., Bo, R. D., Lamperti, C., Ghezzi, S., Fagiolari, G., Fortunato, F., Ballabio, E., Moggio, M. G., Candelise, L., Galimberti, D., et al. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.08.009 · Cited by 73 · see citing works

Frontotemporal Lobar Degeneration: Current Concepts in the Light of Recent Advances

Kumar‐Singh, S., & Broeckhoven, C. V. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00055.x · Cited by 72 · see citing works

Ageing and dementia

Lowe, J. S., Mirra, S. S., Hyman, B. T., & Dickson, D. W. (2008) · CRC Press eBooks · doi:10.1201/b13319-15 · Cited by 68 · see citing works

Frontotemporal dementia

Deleon, J., & Miller, B. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00027-2 · Cited by 70 · see citing works

Genetics and aetiology of Pagetic disorders of bone

Helfrich, M., & Hocking, L. J. (2008) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2008.02.045 · Cited by 67 · see citing works

Valosin-Containing Protein (VCP/p97) Is Required for Poliovirus Replication and Is Involved in Cellular Protein Secretion Pathway in Poliovirus Infection

Arita, M., Wakita, T., & Shimizu, H. (2012) · Journal of Virology · doi:10.1128/jvi.00114-12 · Cited by 67 · see citing works

Characterization of the Asian myopathy patients with VCP mutations

Shi, Z., Hayashi, Y. K., Mitsuhashi, S., Goto, K., Kaneda, D., Choi, Y., Toyoda, C., Hieda, S., Kamiyama, T., Sato, H., et al. (2011) · European Journal of Neurology · doi:10.1111/j.1468-1331.2011.03575.x · Cited by 62 · see citing works

The Slow Wallerian Degeneration Protein, WldS, Binds Directly to VCP/p97 and Partially Redistributes It within the Nucleus

Laser, H., Conforti, L., Morreale, G., Mack, T. G. A., Heyer, M., Haley, J. E., Wishart, T. M., Beirowski, B., Walker, S. A., Haase, G., et al. (2005) · Molecular Biology of the Cell · doi:10.1091/mbc.e05-04-0375 · Cited by 62 · see citing works

Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

Deng, Z., Sheehan, P., Chen, S., & Yue, Z. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0232-6 · Cited by 61 · see citing works

Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy

Guinto, J. B., Ritson, G. P., Taylor, J. P., & Forman, M. S. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0224-7 · Cited by 59 · see citing works

Towards Unveiling the Genetics of Neurodegenerative Diseases

Lill, C., & Bertram, L. (2011) · Seminars in neurology · doi:10.1055/s-0031-1299791

Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean Family

Kim, E., Park, Y.-E., Kim, D.-S., Ahn, B., Kim, H.-S., Chang, Y. H., Kim, S., Kim, H., Lee, H., Seeley, W. W., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.376 · Cited by 55 · see citing works

N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation

Hübener‐Schmid, J., Vauti, F., Funke, C., Wolburg, H., Ye, Y., Schmidt, T., Wolburg‐Buchholz, K., Schmitt, I., Gardyan, A., Drießen, S., et al. (2011) · Brain · doi:10.1093/brain/awr118 · Cited by 54 · see citing works

Clinicopathologic correlation in PGRN mutations

Davion, S., Johnson, N., Weıntraub, S., Mesulam, M. M., Engberg, A. K., Mishra, M., Baker, M., Adamson, J., Hutton, M. L., Rademakers, R., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000267701.58488.69 · Cited by 54 · see citing works

The genetics of frontotemporal lobar degeneration

Rademakers, R., & Hutton, M. (2007) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-007-0067-6 · Cited by 51 · see citing works

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy

Ferrari, V., Cristofani, R., Tedesco, B., Crippa, V., Chierichetti, M., Casarotto, E., Cozzi, M., Mina, F., Piccolella, M., Galbiati, M., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23041939 · Cited by 50 · see citing works

Hereditary inclusion-body myopathies

Broccolini, A., & Massimiliano Mirabella, A. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.08.007 · Cited by 48 · see citing works

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

Ayaki, T., Ito, H., Fukushima, H., Inoue, T., Kondo, T., Ikemoto, A., Asano, T., Shodai, A., Fujita, T., Fukui, S., et al. (2014) · Acta Neuropathologica Communications · doi:10.1186/s40478-014-0172-0 · Cited by 46 · see citing works

Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family

Pirici, D. N., Vandenberghe, R. R., Rademakers, R., Dermaut, B., Cruts, M., Vennekens, K., Cuijt, I., Lübke, U., Ceuterick, C., Martin, J., et al. (2006) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000205147.39210.c7 · Cited by 46 · see citing works

Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis

Thal, D. R., Gawor, K., & Moonen, S. (2024) · Acta Neuropathologica · doi:10.1007/s00401-024-02722-0 · Cited by 47 · see citing works

An Italian family with inclusion‐body myopathy and frontotemporal dementia due to mutation in the VCP gene

Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G. A., Broccolini, A., & Massimiliano Mirabella, A. (2007) · Muscle & Nerve · doi:10.1002/mus.20890 · Cited by 45 · see citing works

Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration: Clinical Presentation, Pathologic Features and Pathogenesis

Weihl, C. C. (2011) · Current Alzheimer Research · doi:10.2174/156720511795563773 · Cited by 44 · see citing works

Evolutionary divergence of valosin‐containing protein/cell division cycle protein 48 binding interactions among endoplasmic reticulum‐associated degradation proteins

Morreale, G., Conforti, L., Coadwell, J., Wilbrey, A. L., & Coleman, M. P. (2009) · FEBS Journal · doi:10.1111/j.1742-4658.2008.06858.x · Cited by 43 · see citing works

Weighted Protein Interaction Network Analysis of Frontotemporal Dementia

Ferrari, R., Lovering, R. C., Hardy, J., Lewis, P. A., & Manzoni, C. (2016) · Journal of Proteome Research · doi:10.1021/acs.jproteome.6b00934 · Cited by 42 · see citing works

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Schiava, M., Ikenaga, C., Villar‐Quiles, R. N., Caballero‐Ávila, M., Töpf, A., Nishino, I., Kimonis, V. E., Udd, B., Schoser, B. G. H., Zanoteli, E., et al. (2022) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2022-328921 · Cited by 41 · see citing works

Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

Viassolo, V., Previtali, S. C., Schiatti, E., Magnani, G., Minetti, C., Zara, F., Grasso, M., Dagna‐Bricarelli, F., & Maria, E. D. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.00984.x · Cited by 40 · see citing works

Autophagy-related proteins: Potential diagnostic and prognostic biomarkers of aging-related diseases

Miceli, C., Leri, M., Stefani, M., & Bucciantini, M. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101967 · Cited by 39 · see citing works

IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation

Bayraktar, O., Oral, Ö., Kocatürk, N. M., Akkoç, Y., Eberhart, K., Koşar, A., & Gözüaçık, D. (2016) · PLoS ONE · doi:10.1371/journal.pone.0164864 · Cited by 37 · see citing works

Heteromeric p97/p97R155C Complexes Induce Dominant Negative Changes in Wild-Type and Autophagy 9-Deficient Dictyostelium strains

Arhzaouy, K., Strucksberg, K.-H., Tung, S. M., Tangavelou, K., Stumpf, M., Faix, J., Schröder, R., Clemen, C. S., & Eichinger, L. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046879 · Cited by 36 · see citing works

A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family

Gu, J., Ke, Y., Yue, H., Liu, Y., Zhang, Z., Zhang, H., Hu, W., Wang, C., He, J., Hu, Y.-Q., et al. (2012) · Bone · doi:10.1016/j.bone.2012.09.012 · Cited by 32 · see citing works

Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease

Nalbandian, A., Nguyen, C., Katheria, V., Llewellyn, K. J., Badadani, M., Caiozzo, V., & Kimonis, V. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076187 · Cited by 30 · see citing works

VCP expression decrease as a biomarker of preclinical and early clinical stages of Parkinson’s disease

Alieva, A. K., Rudenok, M. M., Filatova, E. V., Karabanov, A. V., Doronina, O. B., Doronina, K. S., Kolacheva, A. A., Ugrumov, M. V., Illarioshkin, S. N., Slominsky, P. A., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-57938-3 · Cited by 28 · see citing works

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Fanganiello, R. D., Kimonis, V. E., Côrte, C. C., Nitríni, R., & Passos‐Bueno, M. R. (2011) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2011007500028 · Cited by 27 · see citing works

From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation

Hsueh, Y. (2012) · Journal of Biomedical Science · doi:10.1186/1423-0127-19-33 · Cited by 26 · see citing works

Potential Mechanisms of Progranulin-deficient FTLD

Ward, M. E., & Miller, B. L. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-011-9622-3 · Cited by 24 · see citing works

Valosin-containing protein (VCP): structure, functions, and implications in neurodegenerative diseases

Yeo, B. K., & Yu, S. (2016) · Animal Cells and Systems · doi:10.1080/19768354.2016.1259181 · Cited by 25 · see citing works

PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases

Okazawa, H. (2017) · Neurochemistry International · doi:10.1016/j.neuint.2017.06.005 · Cited by 24 · see citing works

Progranulin axis and recent developments in frontotemporal lobar degeneration

Nicholson, A. M., Gass, J. M., Petrucelli, L., & Rademakers, R. (2012) · Alzheimer s Research & Therapy · doi:10.1186/alzrt102 · Cited by 23 · see citing works

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update

van der Zee, J., Gijselinck, I., Pirici, D. N., Kumar‐Singh, S., Cruts, M., & Broeckhoven, C. V. (2007) · Neurodegenerative Diseases · doi:10.1159/000101847 · Cited by 23 · see citing works

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands

Goebel, H., & Fardeau, M. (2004) · Neuromuscular Disorders · doi:10.1016/j.nmd.2004.08.003 · Cited by 23 · see citing works

Frontotemporal lobar degeneration with ubiquitinated tau‐negative inclusions and additional α‐synuclein pathology but also unusual cerebellar ubiquitinated p62‐positive, TDP‐43‐negative inclusions

King, A., Al‐Sarraj, S., & Shaw, C. E. (2008) · Neuropathology · doi:10.1111/j.1440-1789.2008.00966.x · Cited by 21 · see citing works

The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders

Shih, Y., & Hsueh, Y. (2018) · Journal of Biomedical Science · doi:10.1186/s12929-017-0403-3 · Cited by 21 · see citing works

Structural and functional deviations in disease-associated p97 mutants

Tang, W. K., & Xia, D. (2012) · Journal of Structural Biology · doi:10.1016/j.jsb.2012.04.024 · Cited by 20 · see citing works

Protein disaggregation machineries in the human cytosol

Wentink, A. S., & Rosenzweig, R. (2023) · Current Opinion in Structural Biology · doi:10.1016/j.sbi.2023.102735 · Cited by 18 · see citing works

Increased expression of valosin-containing protein in the skin of patients with amyotrophic lateral sclerosis

Ishikawa, H., Yasui, K., Oketa, Y., Suzuki, M., & Ono, S. (2012) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2011.05.044 · Cited by 18 · see citing works

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Bersano, A., Bo, R. D., Lamperti, C., Ghezzi, S., Fagiolari, G., Fortunato, F., Ballabio, E., Moggio, M. G., Candelise, L., Galimberti, D., et al. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.08.009 · Cited by 73 · see citing works

Frontotemporal dementia associated with a Valosin‐Containing Protein mutation: report of three families

Spina, S., Laar, A. D. V., Murrell, J. R., de Courten‐Myers, G., Hamilton, R. L., Farlow, M. R., Quinlan, J. G., DeKosky, S. T., & Ghetti, B. F. (2008) · The FASEB Journal · doi:10.1096/fasebj.22.1_supplement.58.4 · Cited by 21 · see citing works

Valosin-containing protein gene mutations

Guyant‐Maréchal, L., Laquerrière, A., Duyckaerts, C. J., Dumanchin‐Njock, C., Bou, J., Dugny, F., Ber, I. L., Frébourg, T., Hannequin, D., & Campion, D. (2006) · Neurology · doi:10.1212/01.wnl.0000225184.14578.d3 · Cited by 151 · see citing works

An Italian family with inclusion‐body myopathy and frontotemporal dementia due to mutation in the VCP gene

Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G. A., Broccolini, A., & Massimiliano Mirabella, A. (2007) · Muscle & Nerve · doi:10.1002/mus.20890 · Cited by 45 · see citing works

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Watts, G., Thomasová, D., Ramdeen, S., Fulchiero, E. C., Mehta, S. G., Drachman, D., Weihl, C. C., Jamrozik, Z., Kwieciński, H., Kamińska, A., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00887.x · Cited by 136 · see citing works