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

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity

(2016) Wenzhang Wang et al.   NATURE MEDICINE

Common Molecular Pathways in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2016) Jochen H. Weishaupt et al.   TRENDS IN MOLECULAR MEDICINE

TAR DNA-binding protein 43 and pathological subtype of Alzheimer's disease impact clinical features

(2015) Keith A. Josephs et al.   ANNALS OF NEUROLOGY

A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation

(2015) Delia Kurzwelly et al.   BRAIN

Mutation analysis ofCHCHD10in different neurodegenerative diseases

(2015) Ming Zhang et al.   BRAIN

Slingshot-Cofilin activation mediates mitochondrial and synaptic dysfunction via Aβ ligation to β1-integrin conformers

(2015) J A Woo et al.   CELL DEATH AND DIFFERENTIATION

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

CHCHD2 and Parkinson's disease—Authors' reply

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism

(2015) Siddhesh Aras et al.   MITOCHONDRION

Mitochondrial targeting sequence variants of theCHCHD2gene are a risk for Lewy body disorders

(2015) Kotaro Ogaki et al.   NEUROLOGY

Mitochondrial dysfunction and longevity in animals: Untangling the knot

(2015) Y. Wang et al.   SCIENCE

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis

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

RanBP9 at the intersection between cofilin and Aβ pathologies: rescue of neurodegenerative changes by RanBP9 reduction

(2015) J A Woo et al.   Cell Death & Disease

Late onset spinal motor neuronopathy is caused by mutation inCHCHD10

(2014) Sini Penttilä et al.   ANNALS OF NEUROLOGY

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

(2014) Adeline S.L. Ng et al.   Annals of the New York Academy of Sciences

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

RNA Recognition and Stress Granule Formation by TIA Proteins

(2014) Saboora Waris et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CeleST: Computer Vision Software for Quantitative Analysis of C. elegans Swim Behavior Reveals Novel Features of Locomotion

(2014) Christophe Restif et al.   PLoS Computational Biology

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

(2013) Wenzhang Wang et al.   HUMAN MOLECULAR GENETICS

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2

(2013) Siddhesh Aras et al.   NUCLEIC ACIDS RESEARCH

Protein–RNA interactions: new genomic technologies and perspectives

(2012) Julian König et al.   NATURE REVIEWS GENETICS

The C-Terminal TDP-43 Fragments Have a High Aggregation Propensity and Harm Neurons by a Dominant-Negative Mechanism

(2011) Chunxing Yang et al.   PLoS One

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Convection-enhanced delivery and systemic mannitol increase gene product distribution of AAV vectors 5, 8, and 9 and increase gene product in the adult mouse brain

(2010) Nikisha Carty et al.   JOURNAL OF NEUROSCIENCE METHODS

Mitochondrial Dysfunction Confers Resistance to Multiple Drugs in Caenorhabditis elegans

(2010) Iryna O. Zubovych et al.   MOLECULAR BIOLOGY OF THE CELL

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expression of TDP-43 C-terminal Fragmentsin VitroRecapitulates Pathological Features of TDP-43 Proteinopathies

(2009) Lionel M. Igaz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA