Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes-Reference-Cited by-同舟云学术

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Published:2013-11-20 Issue:7 Volume:23 Page:1907-1915
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Tort Frederic,Ferrer-Cortès Xènia,Thió Marta,Navarro-Sastre Aleix,Matalonga Leslie,Quintana Ester,Bujan Núria,Arias Angela,García-Villoria Judit,Acquaviva Cecile,Vianey-Saban Christine,Artuch Rafael,García-Cazorla Àngels,Briones Paz,Ribes Antonia

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/7/1907/

Reference32 articles.

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2. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes;Cameron;Am. J. Hum. Genet.,2011

3. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway;Mayr;Am. J. Hum. Genet.,2011

4. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation;Mayr;Am. J. Hum. Genet.,2011

5. Mechanisms of mitochondrial diseases;Ylikallio;Ann. Med.,2012

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