Reactome | Antonicka, H

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Antonicka, H Show undefined attributes

created	[InstanceEdit:2995335] Jassal, B, 2013-01-22
dbId	2995360
displayName	Antonicka, H
firstname	Hana
initial	H
publications	[LiteratureReference:9837159] Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis [LiteratureReference:9837009] The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression [LiteratureReference:9837188] A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability [LiteratureReference:2995357] Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy [LiteratureReference:6787444] The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation [LiteratureReference:9865315] Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome [LiteratureReference:9837048] LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria [LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome [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:3095895] Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
schemaClass	Person
surname	Antonicka

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