Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients

(2015) Scott P. Allen et al.   NEUROBIOLOGY OF AGING

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

(2015) Rohini Raman et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients

(2014) Kathryne Kirk et al.   ANNALS OF NEUROLOGY

Mitochondrial Dysfunction and Decrease in Body Weight of a Transgenic Knock-in Mouse Model for TDP-43

(2014) Carola Stribl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

(2013) Richard J. Mead et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

(2013) Wenzhang Wang et al.   HUMAN MOLECULAR GENETICS

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis

(2013) Scott P. Allen et al.   NEUROBIOLOGY OF AGING

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

Mitochondrial dysfunction in human TDP-43 transfected NSC34 cell lines and the protective effect of dimethoxy curcumin

(2012) Jinsheng Lu et al.   BRAIN RESEARCH BULLETIN

Sporadic Alzheimer disease fibroblasts display an oxidative stress phenotype

(2012) Mahesh Ramamoorthy et al.   FREE RADICAL BIOLOGY AND MEDICINE

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

(2012) F. Invernizzi et al.   MITOCHONDRION

Primary Skin Fibroblasts as a Model of Parkinson's Disease

(2012) Georg Auburger et al.   MOLECULAR NEUROBIOLOGY

Full-length TDP-43 and its C-terminal fragments activate mitophagy in NSC34 cell line

(2012) Kun Hong et al.   NEUROSCIENCE LETTERS

Mitochondria removal by autophagy

(2011) Ke Wang et al.   Autophagy

Broad activation of the ubiquitin–proteasome system by Parkin is critical for mitophagy

(2011) Nickie C. Chan et al.   HUMAN MOLECULAR GENETICS

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

(2010) Veronica Crugnola et al.   ARCHIVES OF NEUROLOGY

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

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

DCFH2 interactions with hydroxyl radicals and other oxidants – Influence of organic solvents

(2008) Hans-Jürgen Brömme et al.   EXPERIMENTAL GERONTOLOGY