Query author contributions in Reactome

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Details on Person Antonicka, Hana

Class:Id	Person:2995360
_displayName	Antonicka, Hana
_timestamp	2013-01-22 11:17:47
created	[InstanceEdit:2995335] Jassal, B, 2013-01-22
firstname	Hana
initial	H
surname	Antonicka
(author)	[LiteratureReference:2995357] Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy [LiteratureReference:3095895] Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type [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:6787444] The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation [LiteratureReference:9837009] The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression [LiteratureReference:9837048] LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria [LiteratureReference:9837159] Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis [LiteratureReference:9837188] A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability [LiteratureReference:9865315] Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome [LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
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No pathways have been reviewed or authored by Antonicka, Hana (2995360)