Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

The Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease

(2014) Axel Niemann et al.   BRAIN

Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot–Marie–Tooth neuropathy

(2014) Víctor López Del Amo et al.   HUMAN MOLECULAR GENETICS

Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease

(2014) David Pla-Martín et al.   HUMAN MOLECULAR GENETICS

Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms

(2013) Celine Perier et al.   BRAIN

Orthogonal Functionalisation of Upconverting NaYF4Nanocrystals

(2013) Valerio Voliani et al.   CHEMISTRY-A EUROPEAN JOURNAL

Peripheral neuropathy in mitochondrial disorders

(2013) Davide Pareyson et al.   LANCET NEUROLOGY

Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ

(2013) Frank Krieger et al.   NEUROBIOLOGY OF DISEASE

Silencing of the Charcot–Marie–Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

(2013) David Pla-Martín et al.   NEUROBIOLOGY OF DISEASE

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study

(2012) Martin Picard et al.   JOURNAL OF APPLIED PHYSIOLOGY

Early motor and electrophysiological changes in transgenic mouse model of amyotrophic lateral sclerosis and gender differences on clinical outcome

(2011) Chrystian Junqueira Alves et al.   BRAIN RESEARCH

Reverse phase protein microarrays quantify and validate the bioenergetic signature as biomarker in colorectal cancer

(2011) M. Aldea et al.   CANCER LETTERS

Axonal Charcot–Marie–Tooth disease

(2011) Michael E. Shy et al.   CURRENT OPINION IN NEUROLOGY

Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential

(2011) Rebecca Noack et al.   HUMAN MOLECULAR GENETICS

Charcot-Marie-Tooth-related GeneGDAP1Complements Cell Cycle Delay at G2/M Phase inSaccharomyces cerevisiae fis1Gene-defective Cells

(2011) Anna Estela et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Charcot-Marie-Tooth disease

(2011) Mary M. Reilly et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Post-translational regulation of the microtubule cytoskeleton: mechanisms and functions

(2011) Carsten Janke et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A new model to study spinal muscular atrophy: Neurite degeneration and cell death is counteracted by BCL-XL Overexpression in motoneurons

(2011) Ana Garcera et al.   NEUROBIOLOGY OF DISEASE

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

(2011) M. Zimon et al.   NEUROLOGY

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

(2011) Julien Cassereau et al.   Orphanet Journal of Rare Diseases

Significance of behavioural tests in a transgenic mouse model of amyotrophic lateral sclerosis (ALS)

(2010) Sarah Knippenberg et al.   BEHAVIOURAL BRAIN RESEARCH

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2A

(2010) Romain Cartoni et al.   BRAIN

Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations

(2010) Julien Cassereau et al.   EXPERIMENTAL NEUROLOGY

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

(2010) Rafael Sivera et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

ER Calcium and Alzheimer's Disease: In a State of Flux

(2010) M. P. Mattson   Science Signaling

Loss of PINK1 Function Promotes Mitophagy through Effects on Oxidative Stress and Mitochondrial Fission

(2009) Ruben K. Dagda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Specific vulnerability of mouse spinal cord motoneurons to membrane depolarization

(2009) Myriam Gou-Fabregas et al.   JOURNAL OF NEUROCHEMISTRY

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance

(2009) Axel Niemann et al.   NEUROBIOLOGY OF DISEASE

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

(2009) Isabella Moroni et al.   NEUROMUSCULAR DISORDERS

Targeting and Function of the Mitochondrial Fission Factor GDAP1 Are Dependent on Its Tail-Anchor

(2009) Konstanze M. Wagner et al.   PLoS One

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

(2009) E. Arnaud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

(2008) T. Sevilla et al.   BRAIN

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

(2008) Laia Pedrola et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE