OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
- 30 June 2010
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 100 (2), 149-154
- https://doi.org/10.1016/j.ymgme.2010.03.005
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutationsHuman Mutation, 2009
- A missense mutation in the murine Opa3 gene models human Costeff syndromeBrain, 2007
- Optic atrophies in metabolic disordersMolecular Genetics and Metabolism, 2005
- Atrophie optique, cataracte et signes extra-pyramidaux par mutation du gène OPA3Revue Neurologique, 2005
- OPA3 mutation screening in patients with unexplained 3‐methylglutaconic aciduriaJournal of Inherited Metabolic Disease, 2004
- Hidden localization motifs: naturally occurring peroxisomal targeting signals in non-peroxisomal proteinsGenome Biology, 2004
- Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase geneHuman Molecular Genetics, 1997
- 3-Methylglutaconic Acidemia in Smith-Lemli-Opitz SyndromePediatric Research, 1995
- 3‐METHYLGLUTACONIC ACIDURIA IN THE IRAQI‐JEWISH “OPTIC ATROPHY PLUS‘ (COSTEFF) SYNDROMEDevelopmental Medicine and Child Neurology, 1994
- 3‐Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)Journal of Inherited Metabolic Disease, 1991