Query author contributions in Reactome

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Details on Person Elpeleg, O

Class:Id	Person:380184
_displayName	Elpeleg, O
_timestamp	2008-11-08 17:24:40
created	[InstanceEdit:380210] D'Eustachio, P, 2008-11-08 17:23:03
firstname	Orly
initial	O
modified	[InstanceEdit:380247] D'Eustachio, P, 2008-11-08 17:24:20
surname	Elpeleg
(author)	[LiteratureReference:380182] Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia [LiteratureReference:451032] Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion [LiteratureReference:727772] The H syndrome is caused by mutations in the nucleoside transporter hENT3 [LiteratureReference:2466343] A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins [LiteratureReference:3702145] West syndrome caused by ST3Gal-III deficiency [LiteratureReference:5638214] Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin [LiteratureReference:5653606] Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis [LiteratureReference:6786816] The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 [LiteratureReference:6787460] Acute infantile liver failure due to mutations in the TRMU gene [LiteratureReference:8955553] Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit List all 17 refering instances
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No pathways have been reviewed or authored by Elpeleg, O (380184)