Linked Life Data

12460545

Source:http://linkedlifedata.com/resource/pubmed/id/12460545

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2002-12-3
pubmed:abstractText
Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMTX). We compared the localization of CMTX mutants that affect different domains of Cx32, by expressing them in HeLa cells. Mutants were localized to the endoplasmic reticulum (M34K, N205I, and Y211x), in the Golgi apparatus without reaching the cell membrane (M34T, V38M, A40V, R75Q, R75P, R75W, and C217x), in the Golgi apparatus but also forming rare small gap junction-like plaques (M34I, M34V, and V37M), or mainly on the cell membrane, forming gap junction-like plaques (V35M, I213V, R219C, R219H, R220G, R230C, R230L, R238H, L239I, and S281x). Selected mutants expressed in cultured rat Schwann cells showed localization similar to that in HeLa cells. Thus, many CMTX mutants have trafficking abnormalities, whereas the carboxy-terminus mutants reach the cell membrane and probably cause disease through other mechanisms.
pubmed:grant
pubmed:language
eng
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:author
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
43-52
pubmed:dateRevised
2007-11-14
pubmed:articleTitle
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
pubmed:affiliation
Division of Neurology, St. Christopher's Hospital for Children, MCP--Hahnemann University, Philadelphia, Pennsylvania 19134, USA.