FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
Open Access
- 4 September 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (3) , 415-423
- https://doi.org/10.1016/j.ajhg.2008.08.009
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- A Mitochondrial Protein Compendium Elucidates Complex I Disease BiologyCell, 2008
- Disorders of Nuclear-Mitochondrial Intergenomic CommunicationBioscience Reports, 2007
- FAST Is a Survival Protein That Senses Mitochondrial Stress and Modulates TIA-1-Regulated Changes in Protein ExpressionMolecular and Cellular Biology, 2004
- Clinical and molecular findings in children with complex I deficiencyBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
- The Protein Import Machinery of MitochondriaJournal of Biological Chemistry, 2004
- The expanding spectrum of nuclear gene mutations in mitochondrial disordersSeminars in Cell & Developmental Biology, 2001
- Assessment of Apoptosis and Necrosis by DNA Fragmentation and Morphological CriteriaCurrent Protocols in Cell Biology, 2001
- Multipoint Estimation of Identity-by-Descent Probabilities at Arbitrary Positions among Marker Loci on General PedigreesHuman Heredity, 2001
- Superoxide in ApoptosisJournal of Biological Chemistry, 1998
- Prevention of Apoptosis by Bcl-2: Release of Cytochrome c from Mitochondria BlockedScience, 1997