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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2006-8-22
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pubmed:abstractText |
Hereditary inclusion body myopathy (IBMPFD) with Paget disease of bone (PDB) and frontotemporal dementia (FTD) is a rare multisystem disorder with autosomal dominant inheritance. Recently, missense mutations in the gene encoding valosin-containing protein (VCP) have been found in individuals with IBMPFD. VCP/P97, which exerts a variety of cellular functions, plays a key role in the ubiquitin-proteasome dependent degradation of cytosolic proteins and in the retrotranslocation of misfolded proteins from the endoplasmic reticulum into the cytoplasm.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
22
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
644-51
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pubmed:dateRevised |
2009-9-3
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pubmed:meshHeading |
pubmed-meshheading:16790606-Adenosine Triphosphatases,
pubmed-meshheading:16790606-Cell Cycle Proteins,
pubmed-meshheading:16790606-Chromosome Disorders,
pubmed-meshheading:16790606-DNA Mutational Analysis,
pubmed-meshheading:16790606-Dementia,
pubmed-meshheading:16790606-Female,
pubmed-meshheading:16790606-France,
pubmed-meshheading:16790606-Genetic Predisposition to Disease,
pubmed-meshheading:16790606-Heterozygote,
pubmed-meshheading:16790606-Humans,
pubmed-meshheading:16790606-Incidence,
pubmed-meshheading:16790606-Male,
pubmed-meshheading:16790606-Middle Aged,
pubmed-meshheading:16790606-Multiple Organ Failure,
pubmed-meshheading:16790606-Mutation,
pubmed-meshheading:16790606-Myositis, Inclusion Body,
pubmed-meshheading:16790606-Osteitis Deformans,
pubmed-meshheading:16790606-Pedigree,
pubmed-meshheading:16790606-Prevalence,
pubmed-meshheading:16790606-Retrospective Studies,
pubmed-meshheading:16790606-Risk Assessment,
pubmed-meshheading:16790606-Risk Factors,
pubmed-meshheading:16790606-Syndrome
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pubmed:year |
2006
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pubmed:articleTitle |
Valosin-containing protein gene mutations: clinical and neuropathologic features.
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pubmed:affiliation |
Department of Neurology, Rouen University Hospital, France.
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pubmed:publicationType |
Journal Article
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