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Mitochondrial dysfunction in diabetic kidney disease

Nature reviews. Nephrology, 2018-05, Vol.14 (5), p.291-312

2018

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Leigh syndrome: One disorder, more than 75 monogenic causes

Annals of neurology, 2016-02, Vol.79 (2), p.190-203

2016

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Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

The Journal of biological chemistry, 2019-04, Vol.294 (14), p.5386-5395

2019

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Accessory subunits are integral for assembly and function of human mitochondrial complex I

Nature (London), 2016-10, Vol.538 (7623), p.123-126

2016

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IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins

Cell metabolism, 2015-04, Vol.21 (4), p.609-621

2015

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Understanding mitochondrial complex I assembly in health and disease

Biochimica et biophysica acta, 2012-06, Vol.1817 (6), p.851-862

2012

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Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes

Clinical science (1979), 2016-05, Vol.130 (9), p.711-720

2016

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Mitochondrial diseases

Nature reviews. Disease primers, 2016-10, Vol.2 (1), p.16080-16080, Article 16080

2016

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Mitochondrial disease in adults: recent advances and future promise

Lancet neurology, 2021-07, Vol.20 (7), p.573-584

2021

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High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

Nature communications, 2021-12, Vol.12 (1), p.7056-7056, Article 7056

2021

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Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

Journal of molecular biology, 2006-08, Vol.361 (3), p.462-469

2006

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MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

PLoS genetics, 2016-01, Vol.12 (1), p.e1005779-e1005779

2016

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Assembly of mitochondrial complex I and defects in disease

Biochimica et biophysica acta, 2009, Vol.1793 (1), p.78-88

2009

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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.261-269

2017

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Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex

Molecular cell, 2017-08, Vol.67 (3), p.457-470.e5

2017

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Nature genetics, 2010-10, Vol.42 (10), p.851-858

2010

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

American journal of human genetics, 2014-02, Vol.94 (2), p.209-222

2014

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COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

Human molecular genetics, 2015-10, Vol.24 (19), p.5404-5415

2015

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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

Cell, 2008-07, Vol.134 (1), p.112-123

2008

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Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Human molecular genetics, 2015-05, Vol.24 (10), p.2952-2965

2015

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RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

Journal of the American Society of Nephrology, 2009-04, Vol.20 (4), p.742-752

2009

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

PloS one, 2017-06, Vol.12 (6), p.e0178125-e0178125

2017

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Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Genetics in medicine, 2019-12, Vol.21 (12), p.2823-2826

2019

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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Cell metabolism, 2011-09, Vol.14 (3), p.428-434

2011

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Mitochondrial dysfunction in diabetic kidney disease

Leigh syndrome: One disorder, more than 75 monogenic causes

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Accessory subunits are integral for assembly and function of human mitochondrial complex I

IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins

Understanding mitochondrial complex I assembly in health and disease

Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes

Mitochondrial diseases

Mitochondrial disease in adults: recent advances and future promise

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Assembly of mitochondrial complex I and defects in disease

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

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