Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

(2018) Carina Lehmer et al.   EMBO Molecular Medicine

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

(2018) Emmanuelle C. Genin et al.   NEUROBIOLOGY OF DISEASE

Mitochondrial donation: from test tube to clinic

(2018) Gráinne S Gorman et al.   LANCET

The role of mitochondria in amyotrophic lateral sclerosis

(2017) Emma F. Smith et al.   NEUROSCIENCE LETTERS

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

(2017) Jung-A. A. Woo et al.   Nature Communications

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

(2017) Wenting Guo et al.   Nature Communications

Parkin-Independent Mitophagy Controls Chemotherapeutic Response in Cancer Cells

(2017) Elodie Villa et al.   Cell Reports

Mitochondrial autophagy in cardiomyopathy

(2016) Mingming Tong et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice

(2016) Sylvie Bannwarth et al.   MITOCHONDRION

Acetylcholine receptors from human muscle as pharmacological targets for ALS therapy

(2016) Eleonora Palma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chloroquine improves left ventricle diastolic function in streptozotocin-induced diabetic mice

(2016) Gen-Shui Zhang et al.   Drug Design Development and Therapy

NMJ-morph reveals principal components of synaptic morphology influencing structure–function relationships at the neuromuscular junction

(2016) Ross A. Jones et al.   Open Biology

Age-related fragmentation of the motor endplate is not associated with impaired neuromuscular transmission in the mouse diaphragm

(2016) Silvia Willadt et al.   Scientific Reports

CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1

(2015) Dario Ronchi et al.   BRAIN

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

(2015) E. C. Genin et al.   EMBO Molecular Medicine

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis

(2015) Mauro Cozzolino et al.   Frontiers in Cellular Neuroscience

Late onset spinal motor neuronopathy is caused by mutation inCHCHD10

(2014) Sini Penttilä et al.   ANNALS OF NEUROLOGY

System xC− is a mediator of microglial function and its deletion slows symptoms in amyotrophic lateral sclerosis mice

(2014) Pinar Mesci et al.   BRAIN

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

(2014) Kathrin Müller et al.   BRAIN

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Mechanisms controlling neuromuscular junction stability

(2014) Evelyne Bloch-Gallego   CELLULAR AND MOLECULAR LIFE SCIENCES

The Glutamate Hypothesis in ALS: Pathophysiology and Drug Development

(2014) H. Blasco et al.   CURRENT MEDICINAL CHEMISTRY

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia

(2013) Michael Li-Hsuan Huang et al.   AMERICAN JOURNAL OF PATHOLOGY

Early Changes of Neuromuscular Transmission in the SOD1(G93A) Mice Model of ALS Start Long before Motor Symptoms Onset

(2013) Mariana C. Rocha et al.   PLoS One

Physiological characterization of human muscle acetylcholine receptors from ALS patients

(2011) E. Palma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

(2010) Giuseppe Limongelli et al.   EUROPEAN JOURNAL OF HEART FAILURE

The “Dying-Back” Phenomenon of Motor Neurons in ALS

(2010) Michal Dadon-Nachum et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Energy metabolism in amyotrophic lateral sclerosis

(2010) Luc Dupuis et al.   LANCET NEUROLOGY

Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons

(2009) Luc Dupuis et al.   PLoS One

Consensus Guidance for Banking and Supply of Human Embryonic Stem Cell Lines for Research Purposes

(2009)   Stem Cell Reviews and Reports

The Erv1–Mia40 disulfide relay system in the intermembrane space of mitochondria

(2008) Kai Hell   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Skeletal Muscle Is a Primary Target of SOD1G93A-Mediated Toxicity

(2008) Gabriella Dobrowolny et al.   Cell Metabolism