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Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

Human molecular genetics, 2010-09, Vol.19 (17), p.3343-3353

2010

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Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Clinical genetics, 2022-10, Vol.102 (4), p.339-344

2022

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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

Clinical genetics, 2020-05, Vol.97 (5), p.731-735

2020

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Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-316, Article 316

2022

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Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.150-150, Article 150

2019

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Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

Biochimica et biophysica acta, 2012-08, Vol.1822 (8), p.1216-1222

2012

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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.148-148

2024

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Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3374

2020

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Expanding the clinical phenotypes of MT-ATP6 mutations

Human molecular genetics, 2014-12, Vol.23 (23), p.6191-6200

2014

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Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rate

Journal of critical care, 2016-06, Vol.33, p.95-99

2016

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Pathological Features in Paediatric Patients with TK2 Deficiency

International journal of molecular sciences, 2022-10, Vol.23 (19), p.11002

2022

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The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

Frontiers in neuroscience, 2018-02, Vol.12, p.61

2018

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Xenobiotics that affect oxidative phosphorylation alter differentiation of human adipose-derived stem cells at concentrations that are found in human blood

Disease models & mechanisms, 2015-11, Vol.8 (11), p.1441-1455

2015

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Decrease of oxidative phosphorylation system function in severe septic patients

Journal of critical care, 2015-10, Vol.30 (5), p.935-939

2015

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20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

Biochimica et biophysica acta, 2009-05, Vol.1787 (5), p.476-483

2009

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CPEO and KSS differ in the percentage and location of the mtDNA deletion

Mitochondrion, 2009-09, Vol.9 (5), p.314-317

2009

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Increasing mtDNA levels as therapy for mitochondrial optic neuropathies

Drug discovery today, 2018-03, Vol.23 (3), p.493-498

2018

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Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome

Redox biology, 2017-10, Vol.13 (C), p.244-254

2017

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New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy

Clinical & experimental ophthalmology, 2014-12, Vol.42 (9), p.856-864

2014

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Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy

Mutation research, 2020-10, Vol.786, p.108334-108334, Article 108334

2020

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Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation

Environmental health perspectives, 2016-09, Vol.124 (9), p.1399-1405

2016

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Side Effects of Culture Media Antibiotics on Cell Differentiation

Tissue engineering. Part C, Methods, 2015-11, Vol.21 (11), p.1143

2015

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new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)

Human mutation, 2008-08, Vol.29 (8), p.E112-E122

2008

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Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

Expanding the clinical phenotypes of MT-ATP6 mutations

Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rate

Pathological Features in Paediatric Patients with TK2 Deficiency

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

Xenobiotics that affect oxidative phosphorylation alter differentiation of human adipose-derived stem cells at concentrations that are found in human blood

Decrease of oxidative phosphorylation system function in severe septic patients

20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

CPEO and KSS differ in the percentage and location of the mtDNA deletion

Increasing mtDNA levels as therapy for mitochondrial optic neuropathies

Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy

Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation

Side Effects of Culture Media Antibiotics on Cell Differentiation

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)

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