Linked Life Data

20093061

Source:http://linkedlifedata.com/resource/pubmed/id/20093061

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-4-26
pubmed:abstractText
Oxidative phosphorylation - ATP synthesis by the oxygen-consuming respiratory chain (RC) - supplies most organs and tissues with a readily usable energy source, and is already fully functioning at birth. This means that, in theory, RC deficiency can give rise to any symptom in any organ or tissue at any age and with any mode of inheritance, due to the two-fold genetic origin of RC components (nuclear DNA and mitochondrial DNA). It has long been erroneously believed that RC disorders originate from mutations of mtDNA as, for some time, only mutations or deletions of mtDNA could be identified. However, the number of disease-causing mutations in nuclear genes is now steadily growing. These genes not only encode the various subunits of each complex, but also the ancillary proteins involved in the different stages of holoenzyme biogenesis, including transcription, translation, chaperoning, addition of prosthetic groups and assembly of proteins, as well as the various enzymes involved in mtDNA metabolism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1878-1780
pubmed:author
pubmed:copyrightInfo
(c) 2010 Elsevier Masson SAS. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
97-107
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Genetic bases of mitochondrial respiratory chain disorders.
pubmed:affiliation
Inserm U781, hôpital Necker-Enfants Malades, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France. agnes.Rotig@inserm.fr
pubmed:publicationType
Journal Article, Review