List of works - Veronika Boczonadi

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

scientific article published on 19 January 2018

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

scientific article

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

scientific article published on 28 June 2013

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

scientific article

Annexin A9 is a periplakin interacting partner in membrane‐targeted cytoskeletal linker protein complexes ⬇️

scientific article published on July 24, 2012

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

scientific article

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

scientific article published in August 2016

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration

scientific article

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

scientific article

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins

scientific article

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

scientific article published on 7 February 2015

Mitochondria: impaired mitochondrial translation in human disease

scientific article published on 08 January 2014

Mitochondrial dysfunction in liver failure requiring transplantation

scientific article

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

scientific article published on 8 March 2018

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

scientific article published on 10 April 2018

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets

scientific article published on December 2006

Reversible infantile mitochondrial diseases

scientific article

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

scientific article

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

scientific article published on 18 August 2014

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

scientific article

The role of tRNA synthetases in neurological and neuromuscular disorders

scientific article published on 30 December 2017

List of works by Veronika Boczonadi

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

Annexin A9 is a periplakin interacting partner in membrane‐targeted cytoskeletal linker protein complexes ⬇️

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins

Genetic heterogeneity of motor neuropathies

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

Mitochondria: impaired mitochondrial translation in human disease

Mitochondrial dysfunction in liver failure requiring transplantation

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets

Reversible infantile mitochondrial diseases

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

The role of tRNA synthetases in neurological and neuromuscular disorders