Title |
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
|
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Published in |
Orphanet Journal of Rare Diseases, December 2013
|
DOI | 10.1186/1750-1172-8-192 |
Pubmed ID | |
Authors |
Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay |
Abstract |
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 pyruvate dehydrogenase (PDHc), α-ketoglutarate dehydrogenase (α-KGDHc) and branched chain α-keto acid dehydrogenase (BCKDHc) complexes. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 1% |
Spain | 1 | 1% |
France | 1 | 1% |
Unknown | 64 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 11 | 16% |
Researcher | 10 | 15% |
Student > Bachelor | 9 | 13% |
Other | 4 | 6% |
Professor > Associate Professor | 4 | 6% |
Other | 15 | 22% |
Unknown | 14 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 19 | 28% |
Agricultural and Biological Sciences | 10 | 15% |
Medicine and Dentistry | 9 | 13% |
Unspecified | 2 | 3% |
Psychology | 2 | 3% |
Other | 9 | 13% |
Unknown | 16 | 24% |