Linked Life Data

20018407

Source:http://linkedlifedata.com/resource/pubmed/id/20018407

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-3-28
pubmed:abstractText
Amyotrophic lateral sclerosis (ALS), the major form of motor neuron disease in the adult occurs as a sporadic disease in more than 95% of all cases. Analysis of familial forms is considered as a key to understand the pathophysiology of the disease. It is expected that mutations responsible for familial forms are also found in sporadic ALS. During the past years, several loci and genes have been identified in which disease associated mutations have been discovered. We report here on the screening of 596 sporadic ALS patients, 41 familial ALS cases and other motor neuron disease patients from Germany for mutations in the FUS/TLS gene. Sequencing of the last two exons in all patients revealed the C1561T transversion, which leads to the amino acid substitution at R521C, in one familial and one sporadic ALS patient. In addition three patients with a synonymous mutation at codon 522 were identified. None of these variants were present in the control population. Our results indicate that mutations in FUS/TLS are not a major cause of sporadic ALS in the German population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1558-1497
pubmed:author
pubmed:copyrightInfo
Copyright © 2009. Published by Elsevier Inc.
pubmed:issnType
Electronic
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
548.e1-4
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany.
pubmed:affiliation
Institute for Clinical Neurobiology, Zinklesweg 10, University of Wuerzburg, D-97078 Wuerzburg, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't