Amyotrophic lateral sclerosis: Problems and prospects

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in rats

(2013) Jianbin Tong et al.   EMBO JOURNAL

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm

(2013) Y. Song et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

Subcellular Localization Determines the Stability and Axon Protective Capacity of Axon Survival Factor Nmnat2

(2013) Stefan Milde et al.   PLOS BIOLOGY

Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction

(2012) Ashley Cannon et al.   ACTA NEUROPATHOLOGICA

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

(2012) Claudia Fallini et al.   HUMAN MOLECULAR GENETICS

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

(2012) Matthis Synofzik et al.   HUMAN MOLECULAR GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins

(2012) Shoji Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oligodendroglia metabolically support axons and contribute to neurodegeneration

(2012) Youngjin Lee et al.   NATURE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

(2012)   NEUROBIOLOGY OF AGING

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

(2012) J. M. Osterloh et al.   SCIENCE

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

The Highwire Ubiquitin Ligase Promotes Axonal Degeneration by Tuning Levels of Nmnat Protein

(2012) Xin Xiong et al.   PLOS BIOLOGY

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALS

(2011) C. R. V. Blain et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells

(2011) Christian Münch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Amyotrophic lateral sclerosis: dash-like accumulation of phosphorylated TDP-43 in somatodendritic and axonal compartments of somatomotor neurons of the lower brainstem and spinal cord

(2010) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

Wallerian Degeneration, WldS, and Nmnat

(2010) Michael P. Coleman et al.   Annual Review of Neuroscience

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Neurotoxic effects of TDP-43 overexpression in C. elegans

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

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco et al.   HUMAN MOLECULAR GENETICS

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

(2010) Aaron Voigt et al.   PLoS One

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

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS pathogenesis: Recent insights from genetics and mouse models

(2010) Vivek Swarup et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

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

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

(2009) F. Gros-Louis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice

(2008) K. Yamanaka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease

(2007) Emanuele Buratti   Frontiers in Bioscience-Landmark