about
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementMutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyDistinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsThe molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiencyLRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectIdentification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscleTissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh SyndromeA novel principle for conferring selectivity to poly(A)-binding proteins: interdependence of two ATP synthase beta-subunit mRNA-binding proteins.Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 MutationErratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeA sequence predicted to form a stem-loop is proposed to be required for formation of an RNA-protein complex involving the 3'UTR of beta-subunit F0F1-ATPase mRNA
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Hana Antonicka
@ast
Hana Antonicka
@en
Hana Antonicka
@es
Hana Antonicka
@nl
Hana Antonicka
@sl
type
label
Hana Antonicka
@ast
Hana Antonicka
@en
Hana Antonicka
@es
Hana Antonicka
@nl
Hana Antonicka
@sl
prefLabel
Hana Antonicka
@ast
Hana Antonicka
@en
Hana Antonicka
@es
Hana Antonicka
@nl
Hana Antonicka
@sl
P106
P1153
56285630100
P21
P31
P496
0000-0002-2525-2867