Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein
- 1 February 2004
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 74 (2) , 239-252
- https://doi.org/10.1086/381653
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Mitochondrial membrane remodelling regulated by a conserved rhomboid proteaseNature, 2003
- A novel protein overexpressed in hepatoma accelerates export of NF-κB from the nucleus and inhibits p53-dependent apoptosisCancer Cell, 2002
- Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags databaseHuman Molecular Genetics, 1997
- Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathyBrain & Development, 1994
- A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsThe Journal of Pediatrics, 1994
- New clinical phenotype of branched-chain acyl-CoA oxidation defectThe Lancet, 1991
- Isolation of glyoxalase II from two different compartments of rat liver mitochondria. Kinetic and immunochemical characterization of the enzymesBiochimica et Biophysica Acta (BBA) - General Subjects, 1989
- Biogenesis of MitochondriaAnnual Review of Cell Biology, 1988
- Ethylmalonic-Adipic AciduriaJournal of Clinical Investigation, 1979
- Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of JamaicaClinica Chimica Acta; International Journal of Clinical Chemistry, 1976