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Contribution of ERMES subunits to mature peroxisome abundance

PloS one, 2019-03, Vol.14 (3), p.e0214287-e0214287

2019

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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

Disease models & mechanisms, 2015-06, Vol.8 (6), p.509-526

2015

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417

2021

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417

2021

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A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations

International journal of molecular sciences, 2021-05, Vol.22 (9), p.4461

2021

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

The Journal of clinical investigation, 2007-03, Vol.117 (3), p.765-772

2007

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

American journal of human genetics, 2017-01, Vol.100 (1), p.151-159

2017

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

American journal of human genetics, 2017-10, Vol.101 (4), p.630-637

2017

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Integrity of the Saccharomyces cerevisiae Rpn11 protein is critical for formation of proteasome storage granules (PSG) and survival in stationary phase

PloS one, 2013-08, Vol.8 (8), p.e70357-e70357

2013

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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Journal of medical genetics, 2014-12, Vol.51 (12), p.834-838

2014

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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

American journal of human genetics, 2008-03, Vol.82 (3), p.623-630

2008

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Human mutation, 2010-07, Vol.31 (7), p.E1564-E1573

2010

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

PLoS genetics, 2014-05, Vol.10 (5), p.e1004311-e1004311

2014

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

American journal of human genetics, 2016-09, Vol.99 (3), p.666-673

2016

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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

HGG advances, 2022-04, Vol.3 (2), p.100097-100097, Article 100097

2022

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Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

Mitochondrion, 2014-03, Vol.15, p.59-64

2014

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1119-1128

2012

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Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1-dependent process

The Journal of cell biology, 2021-04, Vol.220 (4), p.1

2021

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Dissection of the carboxyl-terminal domain of the proteasomal subunit Rpn11 in maintenance of mitochondrial structure and function

Molecular biology of the cell, 2008-03, Vol.19 (3), p.1022-1031

2008

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Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases

Human molecular genetics, 2016-02, Vol.25 (4), p.715-727

2016

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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Orphanet journal of rare diseases, 2013-12, Vol.8 (1), p.192-192

2013

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A nonproteolytic proteasome activity controls organelle fission in yeast

Journal of cell science, 2009-10, Vol.122 (Pt 20), p.3673-3683

2009

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Overexpression of yeast thioredoxin TRX2 reduces p53-mediated cell death in yeast

Applied microbiology and biotechnology, 2015-10, Vol.99 (20), p.8619-8628

2015

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Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance

Biochimica et biophysica acta, 2010-09, Vol.1802 (9), p.765-773

2010

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Contribution of ERMES subunits to mature peroxisome abundance

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Integrity of the Saccharomyces cerevisiae Rpn11 protein is critical for formation of proteasome storage granules (PSG) and survival in stationary phase

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1-dependent process

Dissection of the carboxyl-terminal domain of the proteasomal subunit Rpn11 in maintenance of mitochondrial structure and function

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

A nonproteolytic proteasome activity controls organelle fission in yeast

Overexpression of yeast thioredoxin TRX2 reduces p53-mediated cell death in yeast

Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance

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