Clinical Spectrum of VCP Myopathy, Paget Disease, and fronTotemporal Dementia: Experimental Models and Potential Treatments

[1]  M. Rossor,et al.  A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes , 2011, Journal of Neurology.

[2]  D. Wallace,et al.  VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease , 2010, PloS one.

[3]  Takeo Kato,et al.  Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.

[4]  F. Mastaglia,et al.  Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings , 2010, Neuromuscular Disorders.

[5]  A. Wright,et al.  Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. , 2010, Human molecular genetics.

[6]  K. Ess.  Tuberous sclerosis complex: a brave new world? , 2010, Current opinion in neurology.

[7]  William D Fraser,et al.  Genome wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget’s disease of bone , 2010, Nature Genetics.

[8]  J. Ju,et al.  p97/VCP at the intersection of the autophagy and the ubiquitin proteasome system , 2010, Autophagy.

[9]  D. Piwnica-Worms,et al.  Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease , 2009, The Journal of cell biology.

[10]  Charles D. Smith,et al.  Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts , 2009, Neuromuscular Disorders.

[11]  M. Diaz-Meco,et al.  p62 at the Crossroads of Autophagy, Apoptosis, and Cancer , 2009, Cell.

[12]  M. Latterich,et al.  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 , 2009, Molecular and Cellular Biology.

[13]  N. Bresolin,et al.  Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation , 2009, Neurobiology of Aging.

[14]  K. Claeys,et al.  Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia , 2009, Neuromuscular Disorders.

[15]  C. Smart,et al.  Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree , 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

[16]  A. Djamshidian,et al.  A novel mutation in the VCP gene (G157R) in a german family with inclusion‐body myopathy with paget disease of bone and frontotemporal dementia , 2009, Muscle & nerve.

[17]  V. Kimonis,et al.  VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. , 2008, Biochimica et biophysica acta.

[18]  M. Koenig,et al.  Regression of Subependymal Giant Cell Astrocytoma With Rapamycin in Tuberous Sclerosis Complex , 2008, Journal of child neurology.

[19]  A. Pestronk,et al.  TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia , 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

[20]  N. Cairns,et al.  ALS and FTLD: two faces of TDP‐43 proteinopathy , 2008, European journal of neurology.

[21]  Junmin Peng,et al.  Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration , 2008, Journal of neurochemistry.

[22]  G. Magnani,et al.  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 , 2008, Clinical genetics.

[23]  P. Hartikainen,et al.  Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions Visualized With Ubiquitin-Binding Protein p62 Immunohistochemistry , 2008, Journal of neuropathology and experimental neurology.

[24]  Charles D. Smith,et al.  Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia , 2008, American journal of medical genetics. Part A.

[25]  A. Kakizuka.  Roles of VCP in human neurodegenerative disorders. , 2008, Biochemical Society transactions.

[26]  A. Broccolini,et al.  An Italian family with inclusion‐body myopathy and frontotemporal dementia due to mutation in the VCP gene , 2008, Muscle & nerve.

[27]  T. Hoppe.  Less is more: how protein degradation regulates muscle development. , 2008, Ernst Schering Foundation symposium proceedings.

[28]  D. Drachman,et al.  Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia , 2007, Clinical genetics.

[29]  A. Danek,et al.  Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. , 2007, Clinical neuropathology.

[30]  J. Schneider,et al.  Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration , 2007, Acta Neuropathologica.

[31]  Sara E. Miller,et al.  Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. , 2007, Human molecular genetics.

[32]  Hanns Lochmüller,et al.  The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy , 2007, Nature Cell Biology.

[33]  G. Warren,et al.  Targeted deletion of p97 (VCP/CDC48) in mouse results in early embryonic lethality. , 2007, Biochemical and biophysical research communications.

[34]  E. Wanker,et al.  Pathological consequences of VCP mutations on human striated muscle. , 2007, Brain : a journal of neurology.

[35]  N. Cairns,et al.  TDP‐43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations , 2007, Journal of neuropathology and experimental neurology.

[36]  Charles D. Smith,et al.  APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD) , 2007, Genetics in Medicine.

[37]  Bruce L. Miller,et al.  Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.

[38]  S. Melquist,et al.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.

[39]  C. Duyckaerts,et al.  Valosin-containing protein gene mutations , 2006, Neurology.

[40]  Charles D. Smith,et al.  Novel Ubiquitin Neuropathology in Frontotemporal Dementia With Valosin-Containing Protein Gene Mutations , 2006, Journal of neuropathology and experimental neurology.

[41]  S. Dalal,et al.  Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. , 2006, Human molecular genetics.

[42]  E. Hol,et al.  Frameshift proteins in Alzheimer's disease and in other conformational disorders: time for the ubiquitin-proteasome system. , 2006, Journal of Alzheimer's disease : JAD.

[43]  F. Zimprich,et al.  Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene , 2005, Neurology.

[44]  V. Kimonis,et al.  Autosomal Dominant Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia , 2005, Alzheimer disease and associated disorders.

[45]  Jacques P. Brown,et al.  Comparison of a single infusion of zoledronic acid with risedronate for Paget's disease. , 2005, The New England journal of medicine.

[46]  K. Fliessbach,et al.  Mutant valosin‐containing protein causes a novel type of frontotemporal dementia , 2005, Annals of neurology.

[47]  T. Hoppe,et al.  Regulation of the Myosin-Directed Chaperone UNC-45 by a Novel E3/E4-Multiubiquitylation Complex in C. elegans , 2004, Cell.

[48]  L. Hocking,et al.  Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[49]  A. Pestronk,et al.  Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.

[50]  A. Pestronk,et al.  Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes , 2003, Neuromuscular Disorders.

[51]  K. Okamoto,et al.  Vacuole-creating protein in neurodegenerative diseases in humans , 2003, Neuroscience Letters.

[52]  L. Hocking,et al.  Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. , 2002, Human molecular genetics.

[53]  W. Engel,et al.  Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms , 2002, Current opinion in neurology.

[54]  K. Sakamoto.  Ubiquitin-dependent proteolysis: its role in human diseases and the design of therapeutic strategies. , 2002, Molecular genetics and metabolism.

[55]  I. Kanazawa,et al.  Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene , 2002, Neurology.

[56]  Ruth Geiss-Friedlander,et al.  Protein Dislocation from the Endoplasmic Reticulum – Pulling Out the Suspect , 2002, Traffic.

[57]  K. Fröhlich,et al.  AAA-ATPase p97/Cdc48p, a Cytosolic Chaperone Required for Endoplasmic Reticulum-Associated Protein Degradation , 2002, Molecular and Cellular Biology.

[58]  Mark A. Levenstien,et al.  Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. , 2001, Molecular genetics and metabolism.

[59]  M. Hetzer,et al.  Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly , 2001, Nature Cell Biology.

[60]  S. Jentsch,et al.  Mobilization of Processed, Membrane-Tethered SPT23 Transcription Factor by CDC48UFD1/NPL4, a Ubiquitin-Selective Chaperone , 2001, Cell.

[61]  W. Kamphorst,et al.  Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. , 2001, Brain : a journal of neurology.

[62]  Tsviya Olender,et al.  The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy , 2001, Nature Genetics.

[63]  Chou-Chi H. Li,et al.  Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation , 2001, Nature Cell Biology.

[64]  A. Wilkinson,et al.  AAA+ superfamily ATPases: common structure–diverse function , 2001, Genes to cells : devoted to molecular & cellular mechanisms.

[65]  J. Trojanowski,et al.  Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia , 2001, Annals of neurology.

[66]  Murray Grossman,et al.  Quantitative neurohistological features of frontotemporal degeneration , 2000, Neurobiology of Aging.

[67]  S. Leal,et al.  Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone , 2000, Genetics in Medicine.

[68]  D. Pappin,et al.  A complex of mammalian Ufd1 and Npl4 links the AAA‐ATPase, p97, to ubiquitin and nuclear transport pathways , 2000, The EMBO journal.

[69]  W. Baumeister,et al.  AAA-ATPases at the crossroads of protein life and death , 1999, Nature Cell Biology.

[70]  D. Geschwind,et al.  Tau Mutations in Frontotemporal Dementia , 1999, Dementia and Geriatric Cognitive Disorders.

[71]  E V Koonin,et al.  AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. , 1999, Genome research.

[72]  A Klug,et al.  Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[73]  Ronald C. Petersen,et al.  Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.

[74]  Hisao Kondo,et al.  Syntaxin 5 Is a Common Component of the NSF- and p97-Mediated Reassembly Pathways of Golgi Cisternae from Mitotic Golgi Fragments In Vitro , 1998, Cell.

[75]  M. Latterich,et al.  The AAA team: related ATPases with diverse functions. , 1998, Trends in cell biology.

[76]  Hisao Kondo,et al.  p47 is a cofactor for p97-mediated membrane fusion , 1997, Nature.

[77]  K. Boone,et al.  A study of the Lund‐Manchester research criteria for frontotemporal dementia , 1997, Neurology.

[78]  Raymond Scott Turner,et al.  Clinical, neuroimaging, and pathologic features of progressive nonfluent aphasia , 1996, Annals of neurology.

[79]  F. Confalonieri,et al.  A 200‐amino acid ATPase module in search of a basic function , 1995, BioEssays : news and reviews in molecular, cellular and developmental biology.

[80]  H. Lassmann,et al.  Cytoskeleton pathology in Alzheimer's disease and related disorders. , 1991, Journal of neural transmission. Supplementum.

[81]  Z. Argov,et al.  “Rimmed vacuole myopathy” sparing the quadriceps A unique disorder in iranian jews , 1984, Journal of the Neurological Sciences.