Lista de obras - Hana Antonicka - Dominio Público Uruguay

A novel principle for conferring selectivity to poly(A)-binding proteins: interdependence of two ATP synthase beta-subunit mRNA-binding proteins.

artículo científico publicado en 2000

A 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

artículo científico publicado en 2008

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

artículo científico publicado en 1999

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.

artículo científico publicado en 1999

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

artículo científico publicado en 2006

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

article

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

artículo científico publicado en 2005

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

artículo científico publicado en 2010

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

article

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

artículo científico publicado en 2004

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

artículo científico publicado en 2009

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

artículo científico publicado en 2010

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

artículo científico publicado en 2010

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

artículo científico publicado en 2003

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

artículo científico publicado en 2003

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

artículo científico publicado en 2013

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

artículo científico publicado en 2015

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

artículo científico publicado en 2011

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.

artículo científico publicado en 2008

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

artículo científico publicado en 2006

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

artículo científico publicado en 2014

Lista de obras de Hana Antonicka

A novel principle for conferring selectivity to poly(A)-binding proteins: interdependence of two ATP synthase beta-subunit mRNA-binding proteins.

A 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

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

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.

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

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.

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome