Orly Elpeleg

1. Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
   2007/09/07 by Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova +7 · 36 citations
   Biochemistry, Genetics and Molecular Biology · #Biology #Gene #Gene expression #Genetics #Metabolism and Genetic Disorders #Missense mutation #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial respiratory chain #Mitochondrion #Molecular biology #Mutation #RNA #RNA editing #RNA modifications and cancer #RNA splicing #Transfer RNA
2. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
   2009/09/01 by Avraham Zeharia, Avraham Shaag, Orit Pappo +12 · 30 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Biochemistry #Biology #Gene #Genetics #Internal medicine #Liver failure #Medicine #Metabolism and Genetic Disorders #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrion #Mutation #RNA #RNA modifications and cancer #Transfer RNA
3. Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion
   2005/05/06 by Orly Elpeleg, Chaya Miller, Eli Hershkovitz +8 · 5 citations
   Biochemistry, Genetics and Molecular Biology · Chemistry · #ATP synthase #ATP–ADP translocase #Biochemical and Molecular Research #Biochemistry #Biology #Cancer, Hypoxia, and Metabolism #Chemistry #DNA #Enzyme #Gene #Genetics #Inner mitochondrial membrane #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial encephalomyopathy #Mitochondrion
4. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
   2015/11/11 by Ronen Spiegel, Ann Saada, Padraig J. Flannery +18 · 27 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #Cardiomyopathy and Myosin Studies
5. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
   2013/01/30 by Polina Stepensky, Baerbel Keller, Mary Buchta +13 · 3 citations
   Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · Psychology · #Domain (mathematical analysis) #Family member #Human immunodeficiency virus (HIV) #Immune Response and Inflammation #Immunodeficiency #Immunodeficiency and Autoimmune Disorders #Immunology #Medicine #NF-κB Signaling Pathways #Psychology #Virology
6. Inherited Mitochondrial DNA Depletion
   2003/05/13 by Orly Elpeleg · 2 citations
   Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Biology #DNA #DNA replication #Gene #Genetics #Metabolism and Genetic Disorders #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrion #Nucleotide #Phenotype