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

Veronika Boczonadi, Juliane Müller, Angela Pyle, +24

Nature Communications

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

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, +45

The American Journal of Human Genetics

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

D. Herrmann, Rita Horváth, Janet E. Sowden, +15

The American Journal of Human Genetics

Synaptotagmin 2Mutations CauseMedicineNeurological DisorderDegenerative Disease +9

Genetic heterogeneity of motor neuropathies

Boglárka Bánsági, Helen Griffin, Roger G. Whittaker, +16

Neurology

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Andrea Balreira, Veronika Boczonadi, Emanuele Barca, +14

Journal of Neurology

Progressive AtaxiaMendelian DisorderCoq10 SupplementationMedicineGenetics +11

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

Heather A. Long, Veronika Boczonadi, Lorna McInroy, +2

Journal of Cell Science

Cell AdhesionKeratin Intermediate FilamentsCytoskeletonDermatologyCellular Physiology +15

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

Marina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, +12

Human Molecular Genetics

MitophagyGeneticsMolecular BiologyPathologyHuman Myopathies +14

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

Veronika Boczonadi, Martin King, Anthony C. Smith, +16

Genetics in Medicine

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

Veronika Boczonadi, Paul Smith, Angela Pyle, +5

Human Molecular Genetics

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

Veronika Boczonadi, Lorna McInroy, Arto Määttå

Experimental Cell Research

Periplakin N-terminus InteractsSignal TransductionSignaling PathwayMolecular PathwayCell Regulation +11