N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1 −/− zebrafish deletion models of Leigh syndrome

The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders

(2022) Nadia Turton et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

(2021) Sujay Guha et al.   HUMAN MOLECULAR GENETICS

The assembly, regulation and function of the mitochondrial respiratory chain

(2021) Irene Vercellino et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Kinetic advantage of forming respiratory supercomplexes

(2020) Alexei Stuchebrukhov et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The Pursuit of Precision Mitochondrial Medicine: Harnessing pre‐clinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

(2020) Marni J. Falk   JOURNAL OF INHERITED METABOLIC DISEASE

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease

(2019) Sujay Guha et al.   HUMAN MOLECULAR GENETICS

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

(2018) C. Quadalti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Science and Translation of Lactate Shuttle Theory

(2018) George A. Brooks   Cell Metabolism

N -acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

(2018) Erzsebet Polyak et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

(2018) James Byrnes et al.   NEUROCHEMISTRY INTERNATIONAL

Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

(2017) et al.   Journal of Clinical Medicine

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

(2015) Min Peng et al.   HUMAN MOLECULAR GENETICS

Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans

(2015) Shana McCormack et al.   MITOCHONDRION

Leigh Syndrome inDrosophila melanogaster

(2014) Caterina Da-Rè et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

(2014) Gregory M. Enns et al.   PLoS One

Functional role of mitochondrial respiratory supercomplexes

(2013) Maria Luisa Genova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Supramolecular organization of ATP synthase and respiratory chain in mitochondrial membranes

(2009) Ilka Wittig et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Surf1, Associated with Leigh Syndrome in Humans, Is a Heme-binding Protein in Bacterial Oxidase Biogenesis

(2009) Freya A. Bundschuh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

(2009) K. R. Atkuri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA