| pubmed-article:15034582 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C0029401 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C1833672 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C0338451 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:15034582 | lifeskim:mentions | umls-concept:C1314889 | lld:lifeskim |
| pubmed-article:15034582 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:15034582 | pubmed:dateCreated | 2004-3-31 | lld:pubmed |
| pubmed-article:15034582 | pubmed:abstractText | Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21.1-p12. We investigated 13 families with IBMPFD linked to chromosome 9 using a candidate-gene approach. We found six missense mutations in the gene encoding valosin-containing protein (VCP, a member of the AAA-ATPase superfamily) exclusively in all 61 affected individuals. Haplotype analysis indicated that descent from two founders in two separate North American kindreds accounted for IBMPFD in approximately 50% of affected families. VCP is associated with a variety of cellular activities, including cell cycle control, membrane fusion and the ubiquitin-proteasome degradation pathway. Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway. | lld:pubmed |
| pubmed-article:15034582 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15034582 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15034582 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15034582 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:15034582 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15034582 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15034582 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:15034582 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:WhyteMichael... | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:KovachMargare... | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:MummStevenS | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:KimonisVirgin... | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:WattsGiles... | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:PestronkAlanA | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:WymerJillJ | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:MehtaSarju... | lld:pubmed |
| pubmed-article:15034582 | pubmed:author | pubmed-author:DarvishDaniel... | lld:pubmed |
| pubmed-article:15034582 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15034582 | pubmed:volume | 36 | lld:pubmed |
| pubmed-article:15034582 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15034582 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15034582 | pubmed:pagination | 377-81 | lld:pubmed |
| pubmed-article:15034582 | pubmed:dateRevised | 2009-9-3 | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
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| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:meshHeading | pubmed-meshheading:15034582... | lld:pubmed |
| pubmed-article:15034582 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15034582 | pubmed:articleTitle | Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. | lld:pubmed |
| pubmed-article:15034582 | pubmed:affiliation | Division of Genetics, Children's Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA. | lld:pubmed |
| pubmed-article:15034582 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15034582 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:15034582 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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