Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

Post onset, oral rapamycin treatment delays development of mitochondrial encephalopathy only at supramaximal doses

(2017) Roberta Felici et al.   NEUROPHARMACOLOGY

Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome

(2017) Michele Ferrari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gait analysis in a mouse model resembling Leigh disease

(2016) Ria de Haas et al.   BEHAVIOURAL BRAIN RESEARCH

Mitochondrial disorders in children: toward development of small-molecule treatment strategies

(2016) W. J. Koopman et al.   EMBO Molecular Medicine

The neuroimaging of Leigh syndrome: case series and review of the literature

(2016) Eliana Bonfante et al.   PEDIATRIC RADIOLOGY

Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain

(2016) Ernst-Bernhard Kayser et al.   PLoS One

Hypoxia as a therapy for mitochondrial disease

(2016) I. H. Jain et al.   SCIENCE

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

(2015) D. N. Manners et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Emerging concepts in the therapy of mitochondrial disease

(2015) Carlo Viscomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Loss of the smallest subunit of cytochromecoxidase, COX8A, causes Leigh-like syndrome and epilepsy

(2015) Kerstin Hallmann et al.   BRAIN

Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration

(2015) Lucy Liu et al.   CELL

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

(2015) Gabriele Civiletto et al.   Cell Metabolism

Redox Homeostasis and Mitochondrial Dynamics

(2015) Peter H.G.M. Willems et al.   Cell Metabolism

Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse

(2015) Alfred K. Yu et al.   HUMAN MOLECULAR GENETICS

Mitochondrial disease: genetics and management

(2015) Yi Shiau Ng et al.   JOURNAL OF NEUROLOGY

Succination is Increased on Select Proteins in the Brainstem of the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) Knockout Mouse, a Model of Leigh Syndrome

(2015) Gerardo G. Piroli et al.   MOLECULAR & CELLULAR PROTEOMICS

Cysteine-mediated redox signalling in the mitochondria

(2015) D. W. Bak et al.   Molecular BioSystems

Structure of subcomplex Iβ of mammalian respiratory complex I leads to new supernumerary subunit assignments

(2015) Jiapeng Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Mechanistic insight from the crystal structure of mitochondrial complex I

(2015) V. Zickermann et al.   SCIENCE

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning

(2015) Lionel Blanchet et al.   Scientific Reports

Dose-dependent effects of mTOR inhibition on weight and mitochondrial disease in mice

(2015) Simon C. Johnson et al.   Frontiers in Genetics

Mitochondrial respiratory chain complexes as sources and targets of thiol-based redox-regulation

(2014) Stefan Dröse et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

(2014) Raffaele Cerutti et al.   Cell Metabolism

Resting-State Functional Connectivity Changes in Aging apoE4 and apoE-KO Mice

(2014) V. Zerbi et al.   JOURNAL OF NEUROSCIENCE

PARP Inhibition Delays Progression of Mitochondrial Encephalopathy in Mice

(2014) Roberta Felici et al.   Neurotherapeutics

High Resolution Magnetic Resonance Imaging for Characterization of the Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum Disorder

(2014) Manoj Kumar et al.   PLoS One

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

(2013) An I. Jonckheere et al.   BRAIN

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

High-Resolution Magnetic Resonance Microscopy and Diffusion Tensor Imaging to Assess Brain Structural Abnormalities in the Murine Mucopolysaccharidosis VII Model

(2013) Manoj Kumar et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Elevated serum measures of lipid peroxidation and abnormal prefrontal white matter in euthymic bipolar adults: toward peripheral biomarkers of bipolar disorder

(2013) A Versace et al.   MOLECULAR PSYCHIATRY

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

Tract-Based Spatial Statistical Analysis of Diffusion Tensor Imaging in Pediatric Patients with Mitochondrial Disease: Widespread Reduction in Fractional Anisotropy of White Matter Tracts

(2012) G.E. Ishak et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts

(2012) Federica Valsecchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Isolated Mitochondrial Complex I Deficiency: Explorative Data Analysis of Patient Cell Parameters

(2012) Lionel Blanchet et al.   CURRENT PHARMACEUTICAL DESIGN

OXPHOS mutations and neurodegeneration

(2012) Werner J H Koopman et al.   EMBO JOURNAL

Fatal breathing dysfunction in a mouse model of Leigh syndrome

(2012) Albert Quintana et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Primary fibroblasts of NDUFS4−/− mice display increased ROS levels and aberrant mitochondrial morphology

(2012) Federica Valsecchi et al.   MITOCHONDRION

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Gray and white matter degeneration revealed by diffusion in an Alzheimer mouse model

(2012) Valerio Zerbi et al.   NEUROBIOLOGY OF AGING

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Voxelwise Analysis of Diffusion Tensor Imaging and Structural MR Imaging in Patients with the m.3243A>G Mutation in Mitochondrial DNA

(2011) S.M. Virtanen et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

(2011) Jessica Nouws et al.   BRAIN

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

Redox signaling (cross-talk) from and to mitochondria involves mitochondrial pores and reactive oxygen species

(2010) Andreas Daiber   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

Patching cardiac and head motion artefacts in diffusion-weighted images

(2010) Marcel P. Zwiers   NEUROIMAGE

In vivo diffusion tensor magnetic resonance imaging and fiber tracking of the mouse brain

(2010) Laura-Adela Harsan et al.   NMR IN BIOMEDICINE

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

(2010) A. Quintana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation

(2009) Werner J.H. Koopman et al.   ANTIOXIDANTS & REDOX SIGNALING

OXPHOS gene expression and control in mitochondrial disorders

(2009) Fimmie Reinecke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial medicine: entering the era of treatment

(2009) S. Koene et al.   JOURNAL OF INTERNAL MEDICINE

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment

(2008) Werner J.H. Koopman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism