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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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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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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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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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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

Cell death & disease, 2021-01, Vol.12 (1), p.100-18, Article 100

2021

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

International journal of molecular sciences, 2021-04, Vol.22

2021

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Multiple-drug-resistance phenomenon in the yeast Saccharomyces cerevisiae: involvement of two hexose transporters

Molecular and Cellular Biology, 1997-09, Vol.17 (9), p.5453-5460

1997

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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, Vol.22 (9)

2021

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Physical and Functional Association of RNA Polymerase II and the Proteasome

Proceedings of the National Academy of Sciences - PNAS, 2004-04, Vol.101 (16), p.5904-5909

2004

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The ATP‐binding cassette multidrug transporter Snq2 of Saccharomyces cerevisiae: a novel target for the transcription factors Pdr1 and Pdr3

Molecular microbiology, 1996-04, Vol.20 (1), p.109-117

1996

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The yeast zinc finger regulators Pdr1p and Pdr3p control pleiotropic drug resistance (PDR) as homo‐ and heterodimers in vivo

Molecular microbiology, 2002-12, Vol.46 (5), p.1429-1440

2002

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Cellular localization of human p53 expressed in the yeast Saccharomyces cerevisiae: effect of NLSI deletion

Apoptosis (London), 2011-07, Vol.16 (7), p.746-756

2011

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Chemicals or mutations that target mitochondrial translation can rescue the respiratory deficiency of yeast bcs1 mutants

Biochimica et biophysica acta. Molecular cell research, 2017-12, Vol.1864 (12), p.2297-2307

2017

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Integrity of the Saccharomyces cerevisiae Rpn11 Protein Is Critical for Formation of Proteasome Storage Granules

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

2013

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

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

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

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

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

A nonproteolytic proteasome activity controls organelle fission in yeast

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

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

Multiple-drug-resistance phenomenon in the yeast Saccharomyces cerevisiae: involvement of two hexose transporters

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

Physical and Functional Association of RNA Polymerase II and the Proteasome

The ATP‐binding cassette multidrug transporter Snq2 of Saccharomyces cerevisiae: a novel target for the transcription factors Pdr1 and Pdr3

The yeast zinc finger regulators Pdr1p and Pdr3p control pleiotropic drug resistance (PDR) as homo‐ and heterodimers in vivo

Cellular localization of human p53 expressed in the yeast Saccharomyces cerevisiae: effect of NLSI deletion

Chemicals or mutations that target mitochondrial translation can rescue the respiratory deficiency of yeast bcs1 mutants

Integrity of the Saccharomyces cerevisiae Rpn11 Protein Is Critical for Formation of Proteasome Storage Granules

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