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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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Turn up the power – pharmacological activation of mitochondrial biogenesis in mouse models

British journal of pharmacology, 2014-04, Vol.171 (8), p.1818-1836

2014

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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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Mitochondrial disorders: Prevalence, myths and advances

Journal of inherited metabolic disease, 2004-05, Vol.27 (3), p.349-362

Thorburn, D. R.

2004

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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 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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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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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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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

Human molecular genetics, 2014-04, Vol.23 (8), p.2106-2119

2014

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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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Mitochondrial dysfunction in diabetic kidney disease

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

2018

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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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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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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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Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

Molecular and Cellular Biology, 2007-06, Vol.27 (12), p.4228-4237

2007

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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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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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Mitochondrial biology and dysfunction in secondary mitochondrial disease

Open biology, 2022-12, Vol.12 (12), p.220274-220274

2022

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Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

International journal of molecular sciences, 2021-07, Vol.22 (14), p.7730

2021

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

American journal of human genetics, 2013-08, Vol.93 (2), p.384-389

2013

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Diagnosis of 'possible' mitochondrial disease: an existential crisis

Journal of medical genetics, 2019-03, Vol.56 (3), p.123-130

2019

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Human molecular genetics, 2013-11, Vol.22 (22), p.4460-4473

2013

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Leigh syndrome: One disorder, more than 75 monogenic causes

Turn up the power – pharmacological activation of mitochondrial biogenesis in mouse models

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

Mitochondrial disorders: Prevalence, myths and advances

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

Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

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

Assembly of mitochondrial complex I and defects in disease

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

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

Mitochondrial dysfunction in diabetic kidney disease

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

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

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

Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

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

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

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

Mitochondrial biology and dysfunction in secondary mitochondrial disease

Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

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