Literature DB >> 25125609

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Michael A Gonzalez1, Shawna M Feely2, Fiorella Speziani1, Alleene V Strickland1, Matt Danzi1, Chelsea Bacon2, Youjin Lee3, Tsui-Fen Chou4, Susan H Blanton1, Conrad C Weihl3, Stephan Zuchner5, Michael E Shy6.   

Abstract

Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Functional studies showed that the Glu185Lys variant impaired autophagic function leading to the accumulation of immature autophagosomes. VCP mutations should thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2.
© The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Keywords:  autophagy; hereditary motor and sensory neuropathies; neurodegeneration; neuropathy; whole-exome sequencing

Mesh：

Substances：

Year:  2014        PMID： 25125609      PMCID： PMC4208462          DOI： 10.1093/brain/awu224

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


  21 in total

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Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

2.  Hereditary spastic paraplegia caused by a mutation in the VCP gene.

Authors:  Susanne T de Bot; Helenius J Schelhaas; Erik-Jan Kamsteeg; Bart P C van de Warrenburg
Journal:  Brain       Date:  2012-09-18       Impact factor: 13.501

3.  Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.

Authors:  Max Koppers; Ewout J N Groen; Paul W J van Vught; Wouter van Rheenen; Esther Witteveen; Michael A van Es; R Jeroen Pasterkamp; Leonard H van den Berg; Jan H Veldink
Journal:  Neurobiol Aging       Date:  2012-11-08       Impact factor: 4.673

Review 4.  Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system.

Authors:  Hemmo Meyer; Monika Bug; Sebastian Bremer
Journal:  Nat Cell Biol       Date:  2012-02-02       Impact factor: 28.824

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

Authors:  Giles D J Watts; Jill Wymer; Margaret J Kovach; Sarju G Mehta; Steven Mumm; Daniel Darvish; Alan Pestronk; Michael P Whyte; Virginia E Kimonis
Journal:  Nat Genet       Date:  2004-03-21       Impact factor: 38.330

Review 6.  Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

Authors:  Vincent Timmerman; Virginia E Clowes; Evan Reid
Journal:  Exp Neurol       Date:  2012-01-18       Impact factor: 5.330

7.  The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.

Authors:  Hajime Niwa; Caroline A Ewens; Chun Tsang; Heidi O Yeung; Xiaodong Zhang; Paul S Freemont
Journal:  J Biol Chem       Date:  2012-01-23       Impact factor: 5.157

8.  BioGRID: a general repository for interaction datasets.

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Review 9.  Amyotrophic lateral sclerosis: Problems and prospects.

Authors:  Jemeen Sreedharan; Robert H Brown
Journal:  Ann Neurol       Date:  2013-09       Impact factor: 10.422

10.  Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Authors:  Vincent Timmerman; Alleene V Strickland; Stephan Züchner
Journal:  Genes (Basel)       Date:  2014-01-22       Impact factor: 4.096
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  35 in total

1.  Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

Authors:  Ling Yi; Stephen G Kaler
Journal:  J Biol Chem       Date:  2018-03-29       Impact factor: 5.157

2.  Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Authors:  E Al-Obeidi; S Al-Tahan; A Surampalli; N Goyal; A K Wang; A Hermann; M Omizo; C Smith; T Mozaffar; V Kimonis
Journal:  Clin Genet       Date:  2018-01       Impact factor: 4.438

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4.  Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.

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Journal:  Mol Med       Date:  2020-12-09       Impact factor: 6.354

5.  Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Authors:  Conrad C Weihl; Robert H Baloh; Youjin Lee; Tsui-Fen Chou; Sara K Pittman; Glenn Lopate; Peggy Allred; Jennifer Jockel-Balsarotti; Alan Pestronk; Matthew B Harms
Journal:  Neuromuscul Disord       Date:  2015-01-06       Impact factor: 4.296

Review 6.  New Developments in the Genetics of Inclusion Body Myositis.

Authors:  Kyla A Britson; Stephanie Y Yang; Thomas E Lloyd
Journal:  Curr Rheumatol Rep       Date:  2018-04-02       Impact factor: 4.592

7.  215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Authors:  Teresinha Evangelista; Conrad C Weihl; Virginia Kimonis; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2016-05-30       Impact factor: 4.296

8.  Mitochondrial Respiratory Measurements in Patient-derived Fibroblasts.

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Journal:  Bio Protoc       Date:  2019-12-05

9.  Generation, Analyzing and in-vivo Drug Treatment of Drosophila Models with IBMPFD.

Authors:  Ting Zhang; Bruce A Hay; Ming Guo
Journal:  Bio Protoc       Date:  2020-05-20

10.  The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Authors:  Jan Senderek; Petra Lassuthova; Dagmara Kabzińska; Lisa Abreu; Jonathan Baets; Christian Beetz; Geir J Braathen; David Brenner; Joline Dalton; Lois Dankwa; Tine Deconinck; Peter De Jonghe; Bianca Dräger; Katja Eggermann; Melina Ellis; Carina Fischer; Tanya Stojkovic; David N Herrmann; Rita Horvath; Helle Høyer; Stephan Iglseder; Marina Kennerson; Katharina Kinslechner; Jennefer N Kohler; Ingo Kurth; Nigel G Laing; Phillipa J Lamont; Löscher Wolfgang N; Albert Ludolph; Wilson Marques; Garth Nicholson; Royston Ong; Susanne Petri; Gianina Ravenscroft; Adriana Rebelo; Giulia Ricci; Sabine Rudnik-Schöneborn; Anja Schirmacher; Beate Schlotter-Weigel; Ludger Schoels; Rebecca Schüle; Matthis Synofzik; Bruno Francou; Tim M Strom; Johannes Wagner; David Walk; Julia Wanschitz; Daniela Weinmann; Jochen Weishaupt; Manuela Wiessner; Reinhard Windhager; Peter Young; Stephan Züchner; Stefan Toegel; Pavel Seeman; Andrzej Kochański; Michaela Auer-Grumbach
Journal:  Neurology       Date:  2020-11-03       Impact factor: 9.910
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