TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
- 26 March 2009
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 84 (4) , 493-498
- https://doi.org/10.1016/j.ajhg.2009.03.003
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathyNature Genetics, 2008
- Hereditary optic neuropathies share a common mitochondrial coupling defectAnnals of Neurology, 2008
- Inherited mitochondrial optic neuropathiesJournal of Medical Genetics, 2008
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesBrain, 2007
- Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?Bioscience Reports, 2007
- A guided tour into subcellular colocalization analysis in light microscopyJournal of Microscopy, 2006
- Systematic identification of human mitochondrial disease genes through integrative genomicsNature Genetics, 2006
- The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratNature Genetics, 2006
- Familial optic atrophy with white matter changesAmerican Journal of Medical Genetics Part A, 2003
- Messenger RNA sorting in enterocytes Co‐localization with encoded proteinsFEBS Letters, 1992