Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Soreze, Yohan ^a   Boutron, Audrey ^b   Habarou, Florence ^a,c   Barnerias, Christine ^d   Nonnenmacher, Luc ^c   Delpech, Hélène ^e   Mamoune, Asmaa ^a   Chrétien, Dominique ^f   Hubert, Laurence ^a   Bole Feysot, Christine ^f   Nitschke, Patrick ^a   Correia, Isabelle ^b   Sardet, Claude ^e   Boddaert, Nathalie ^a   Hamel, Yamina ^a   Delahodde, Agnès ^g   Ottolenghi, Chris ^a,c   De Lonlay, Pascale ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b BICÊTRE HOSPITAL   (France)

^c INSERM   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e INSTITUT DE GÉNÉTIQUE MOLÉCULAIRE DE MONTPELLIER   (France)

^f IMAGINE INSTITUTE   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

Alphaketoglutarate dehydrogenase lipoic acid; Leigh disease; LIPT1; Pyruvate dehydrogenase

Indexed keywords

ACYLTRANSFERASES; AMINO ACIDS; CARRIER PROTEINS; CELLS, CULTURED; FIBROBLASTS; HUMANS; IMMUNOBLOTTING; KETOGLUTARATE DEHYDROGENASE COMPLEX; KETONE OXIDOREDUCTASES; LEIGH DISEASE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); THIOCTIC ACID;

EID: 84890252955     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-192     Document Type: Article

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