Amyotrophic lateral sclerosis: Problems and prospects (Q38137892)

29 August 2017

title

Amyotrophic lateral sclerosis: Problems and prospects (English)

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amyotrophic lateral sclerosis

29 August 2017

main subject

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author name string

Jemeen Sreedharan

series ordinal

1

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29 August 2017

Robert H Brown

series ordinal

2

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29 August 2017

language of work or name

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1 September 2013

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29 August 2017

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29 August 2017

volume

74

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29 August 2017

issue

3

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29 August 2017

page(s)

309-316

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

29 August 2017

cites work

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

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

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

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

21 January 2018

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Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

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Mutant dynactin in motor neuron disease.

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A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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

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

21 January 2018

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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

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

21 January 2018

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Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins

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

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

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Neurotoxic effects of TDP-43 overexpression in C. elegans

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TDP-43-mediated neuron loss in vivo requires RNA-binding activity

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

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

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

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

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Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

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

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

21 January 2018

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Prion-like properties of pathological TDP-43 aggregates from diseased brains

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 January 2018

1 reference

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

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

21 January 2018

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

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A yeast functional screen predicts new candidate ALS disease genes

21 January 2018

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

21 January 2018

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

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Non-ATG-initiated translation directed by microsatellite expansions

21 January 2018

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

21 January 2018

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Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

21 January 2018

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

21 January 2018

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Axonal swellings in the corticospinal tracts in amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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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

21 January 2018

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Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

21 January 2018

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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Fast axonal transport in amyotrophic lateral sclerosis: an intra-axonal organelle traffic analysis

21 January 2018

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Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

21 January 2018

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

21 January 2018

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Wallerian degeneration, wld(s), and nmnat

21 January 2018

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Subcellular localization determines the stability and axon protective capacity of axon survival factor Nmnat2.

21 January 2018

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dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

21 January 2018

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The Highwire ubiquitin ligase promotes axonal degeneration by tuning levels of Nmnat protein

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Onset and progression in inherited ALS determined by motor neurons and microglia

21 January 2018

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Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Oligodendroglia metabolically support axons and contribute to neurodegeneration.

21 January 2018

1 reference

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

21 January 2018

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Amyotrophic lateral sclerosis in an urban setting

21 January 2018

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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.24012

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29 August 2017

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