Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

Carla Giordano, Luisa Iommarini, Luca Giordano, +32

Brain

BiologyNeurodegenerative DiseasesMolecular NeuroscienceMitochondrial BiogenesisOphthalmology +12

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

Valentina Del Dotto, Prashant Mishra, Sara Vidoni, +11

Cell Reports

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

Angelo Iannielli, Simone Bido, Lucrezia Folladori, +14

Cell Reports

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, +37

Nature Genetics

Somatic VariantMendelian DisorderGenetic DisorderGeneticsMolecular Biology +5

Syndromic parkinsonism and dementia associated with <scp> <i>OPA</i> </scp> <i>1</i> missense mutations

Valério Carelli, Olimpia Musumeci, Leonardo Caporali, +23

Annals of Neurology

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva, +50

Journal of Clinical Investigation

Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

Luca Giordano, Stefania Deceglie, Pio D’Adamo, +20

Cell Death and Disease

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, +8

PLoS ONE

NeurogenomicsGeneticsMolecular GeneticsDisease Gene IdentificationSynaptic Signaling +19

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Roberto De Giorgio, Loris Pironi, Rita Rinaldi, +19

Annals of Neurology

GeneticsImmunologyPathologyThymidine Phosphorylase ReplacementTranslational Medicine +15

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Valentina Del Dotto, Farid Ullah, Ivano Di Meo, +44

Journal of Clinical Investigation

Mtdna DepletionMitochondrial DysfunctionGeneticsMolecular BiologyMolecular Genetics +14