CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures-Reference-Cited by-同舟云学术

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Published:2008-03 Issue:3 Volume:82 Page:623-630
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mollet Julie,Delahodde Agnès,Serre Valérie,Chretien Dominique,Schlemmer Dimitri,Lombes Anne,Boddaert Nathalie,Desguerre Isabelle,de Lonlay Pascale,Ogier de Baulny Hélène,Munnich Arnold,Rötig Agnès

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders;Mollet;J. Clin. Invest.,2007

2. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations;Lopez;Am. J. Hum. Genet.,2006

3. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency;Quinzii;Am. J. Hum. Genet.,2006

4. COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement;Diomedi-Camassei;J. Am. Soc. Nephrol.,2007

5. Endogenous synthesis of coenzyme Q in eukaryotes;Tran;Mitochondrion,2007

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