A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
about
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesMutations in the Human AAA+ Chaperone p97 and Related DiseasesRare Manifestation of a c.290 C>T, p.Gly97Glu VCP MutationA Mighty "Protein Extractor" of the Cell: Structure and Function of the p97/CDC48 ATPase.Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo.Macrolides sensitize EGFR-TKI-induced non-apoptotic cell death via blocking autophagy flux in pancreatic cancer cell lines.Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants.Clinical spectrum of valosin containing protein (VCP)-opathy.Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.An engineered, quantifiable in vitro model for analysing the effect of proteostasis-targeting drugs on tissue physical properties
P2860
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P2860
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
description
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
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im November 2014 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2014/11/01)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/11/01)
@nl
наукова стаття, опублікована в листопаді 2014
@uk
مقالة علمية (نشرت في نوفمبر 2014)
@ar
name
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@ast
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@en
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@nl
type
label
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@ast
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@en
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@nl
prefLabel
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@ast
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@en
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@nl
P2093
P2860
P356
P1433
P1476
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
@en
P2093
Alleene V. Strickland
Chelsea Bacon
Conrad C. Weihl
Fiorella Speziani
Matt Danzi
Michael A. Gonzalez
Michael E. Shy
Shawna M. Feely
Susan H. Blanton
Tsui-Fen Chou
P2860
P304
P356
10.1093/BRAIN/AWU224
P407
P577
2014-11-01T00:00:00Z