Linked Life Data

19427854

Source:http://linkedlifedata.com/resource/pubmed/id/19427854

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-7-14
pubmed:abstractText
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary peripheral neuropathy. The main axonal form of CMT, CMT2A, preferentially affects peripheral neurons with the longest neurites. CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene. Mfn2 participates in mitochondrial fusion a process that together with mitochondrial fission, contributes to mitochondrial morphology. Many hypotheses have been postulated to understand how mutations in Mfn2 lead to CMT2A. In this review, we will describe the physiological role of Mfn2, the pathophysiology of CMT2A and current hypotheses about the deleterious role of mutant Mfn2 in neuronal function.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1090-2430
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
218
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
268-73
pubmed:dateRevised
2009-11-2
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.
pubmed:affiliation
Department of Cell Biology, Genève, Switzerland.
pubmed:publicationType
Journal Article, Review