Linked Life Data

15465421

Source:http://linkedlifedata.com/resource/pubmed/id/15465421

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-3
pubmed:dateCreated
2004-10-6
pubmed:abstractText
Niemann-Pick type C (NPC) is a lysosomal storage disorder, characterized by intracellular accumulation of low-density lipoprotein (LDL)-derived cholesterol and neurodegeneration leading to premature death. The most common form of the disease, NPC1, results from mutations in the NPC1 gene. Thus, the NPC1 protein is the focus of intense investigation to elucidate the function of this protein and its role in the disease pathogenesis. Recent studies have revealed the NPC1 subcellular location, topology and potential functions of the NPC1 protein. In lieu of direct experimental evidence, certain hypotheses about the function of NPC1 can be inferred by analyzing disease-causing mutations, NPC1 protein sequence homology to other related proteins, and the potential tertiary structure similarity between NPC1 and its prokaryotic ancestors, such as the E. coli RND permease AcrB. This review will discuss recent work on the characterization and function of the NPC1 protein and highlight structural features that may be important in assisting in the elucidation of NPC1 function and role in subcellular lipid transport and homeostasis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0006-3002
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
1685
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
8-13
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
The NPC1 protein: structure implies function.
pubmed:affiliation
Department of Human Genetics-Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't