Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules.
|
29804830 |
2018 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.
|
27753622 |
2017 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response.
|
27226613 |
2016 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.
|
27209344 |
2016 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
|
26555887 |
2015 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
|
25878907 |
2015 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.
|
25492614 |
2014 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.
|
24829604 |
2014 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
|
25125609 |
2014 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.
|
23349634 |
2013 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
|
22078486 |
2012 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
|
22270372 |
2012 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.
|
21822278 |
2011 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.
|
20512113 |
2010 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.
|
20335036 |
2010 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD.
|
20104022 |
2010 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.
|
19225410 |
2009 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
|
19704082 |
2009 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
|
17935506 |
2007 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.
|
16321991 |
2006 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
|
16247064 |
2005 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutant valosin-containing protein causes a novel type of frontotemporal dementia.
|
15732117 |
2005 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
|
16247064 |
2005 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
|
15034582 |
2004 |
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response.
|
27226613 |
2016 |