Linked Life Data

20197120

Source:http://linkedlifedata.com/resource/pubmed/id/20197120

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-5-21
pubmed:abstractText
MtDNA sequence variation is presumed to be neutral in effect, but associations with diseases and mtDNA haplogroups have been reported. The aim here was to evaluate the functional consequences of m.4216T>C present in haplogroup J. Furthermore, we evaluated m.3866T>C in MT-ND1, a variant detected in a child belonging to haplogroup J and with an isolated complex I deficiency. Homologous substitutions were introduced into Escherichia coli. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1872-8278
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
358-61
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli.
pubmed:affiliation
Department of Clinical Medicine, Neurology, University of Oulu, 90014 Oulu, Finland. reetta.hinttala@oulu.fi
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't