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A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1593-1594

Zeviani, Massimo

2021

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Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions

International journal of molecular sciences, 2021-01, Vol.22 (2), p.586

2021

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Mitochondrial disorders of the OXPHOS system

FEBS letters, 2021-04, Vol.595 (8), p.1062-1106

2021

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MtDNA-maintenance defects: syndromes and genes

Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.587-599

2017

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Mitochondrial Retinopathies

International journal of molecular sciences, 2021-12, Vol.23 (1), p.210

2021

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Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids

Molecular psychiatry, 2021-10, Vol.26 (10), p.5733-5750

2021

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Emerging concepts in the therapy of mitochondrial disease

Biochimica et biophysica acta, 2015-06, Vol.1847 (6-7), p.544-557

2015

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Mitochondrial Neurodegeneration

Cells (Basel, Switzerland), 2022-02, Vol.11 (4), p.637

2022

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Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

Cell metabolism, 2015-06, Vol.21 (6), p.845-854

2015

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The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage

Cell metabolism, 2015-06, Vol.21 (6), p.834-844

2015

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Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

eLife, 2023-10, Vol.12

2023

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NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

Cell metabolism, 2014-06, Vol.19 (6), p.1042-1049

2014

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RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

PLoS genetics, 2020-07, Vol.16 (7), p.e1008923-e1008923

2020

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Transcription Factor EB Controls Metabolic Flexibility during Exercise

Cell metabolism, 2017-01, Vol.25 (1), p.182-196

2017

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Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Frontiers in genetics, 2015-04, Vol.6, p.134-134

2015

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Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

EMBO molecular medicine, 2018-11, Vol.10 (11), p.n/a

2018

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The relevance of migraine in the clinical spectrum of mitochondrial disorders

Scientific reports, 2022-03, Vol.12 (1), p.4222-4222, Article 4222

2022

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RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

PLoS genetics, 2019-01, Vol.15 (1), p.e1007781-e1007781

2019

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Mitochondrial Matchmaking

The New England journal of medicine, 2016-11, Vol.375 (19), p.1894-1896

2016

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Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

Nature communications, 2021-04, Vol.12 (1), p.2103-19, Article 2103

2021

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Myoclonus epilepsy in mitochondrial disorders

Epileptic disorders, 2016-09, Vol.18 (s2), p.S94-S102

2016

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Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle

Cell metabolism, 2014-06, Vol.19 (6), p.1034-1041

2014

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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Biochimica et biophysica acta, 2016-08, Vol.1857 (8), p.1326-1335

2016

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Peripheral neuropathy in mitochondrial disorders

Lancet neurology, 2013-10, Vol.12 (10), p.1011-1024

2013

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Cytochrome c oxidase deficiency

Biochimica et biophysica acta. Bioenergetics, 2021-01, Vol.1862 (1), p.148335-148335, Article 148335

2021

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A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy

Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions

Mitochondrial disorders of the OXPHOS system

MtDNA-maintenance defects: syndromes and genes

Mitochondrial Retinopathies

Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids

Emerging concepts in the therapy of mitochondrial disease

Mitochondrial Neurodegeneration

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage

Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

Transcription Factor EB Controls Metabolic Flexibility during Exercise

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

The relevance of migraine in the clinical spectrum of mitochondrial disorders

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

Mitochondrial Matchmaking

Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

Myoclonus epilepsy in mitochondrial disorders

Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Peripheral neuropathy in mitochondrial disorders

Cytochrome c oxidase deficiency

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