Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for p...
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
About this item
Full title
Author / Creator
Soreze, Yohan , Boutron, Audrey , Habarou, Florence , Barnerias, Christine , Nonnenmacher, Luc , Delpech, Hélène , Mamoune, Asmaa , Chrétien, Dominique , Hubert, Laurence , Bole-Feysot, Christine , Nitschke, Patrick , Correia, Isabelle , Sardet, Claude , Boddaert, Nathalie , Hamel, Yamina , Delahodde, Agnès , Ottolenghi, Chris and de Lonlay, Pascale
Publisher
BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no mutation was found so far in genes involved in the specific process of attachment of lipoic acid to apoenzymes...
Alternative Titles
Full title
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Authors, Artists and Contributors
Author / Creator
Boutron, Audrey
Habarou, Florence
Barnerias, Christine
Nonnenmacher, Luc
Delpech, Hélène
Mamoune, Asmaa
Chrétien, Dominique
Hubert, Laurence
Bole-Feysot, Christine
Nitschke, Patrick
Correia, Isabelle
Sardet, Claude
Boddaert, Nathalie
Hamel, Yamina
Delahodde, Agnès
Ottolenghi, Chris
de Lonlay, Pascale
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A534764195
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A534764195
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-192
