Linked Life Data

8543936

Source:http://linkedlifedata.com/resource/pubmed/id/8543936

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1996-2-9
pubmed:abstractText
Neurotrophic factors, such as ciliary neurotrophic factor (CNTF), have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a human neurodegenerative disease primarily of upper and lower motor neurones. A null mutation of the CNTF gene has recently been described. The mutation is an intronic point mutation (G to A) which generates a new splice acceptor site and a 4 bp insertion within the CNTF coding region, and prevents the expression of the normal protein. We investigated this as a candidate gene in 49 families with ALS, where the genetic component may be expected to be strongest. 65% were normal homozygotes, and 35% were heterozygotes for the mutation. No mutant homozygotes were detected. The absence of CNTF protein expression associated with the homozygote mutation does not appear to be of major significance in the development of ALS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
132
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
126-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis.
pubmed:affiliation
Department of Biochemistry, Charing Cross and Westminister Medical School, London, UK.
pubmed:publicationType
Journal Article, Clinical Trial, Research Support, Non-U.S. Gov't