Biological Spectrum of Amyotrophic Lateral Sclerosis Prions. (Q46031626)

18 December 2017

title

Biological Spectrum of Amyotrophic Lateral Sclerosis Prions. (English)

1 reference

18 December 2017

amyotrophic lateral sclerosis

main subject

prion protein family

0 references

0 references

Don W Cleveland

2

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author name string

Magdalini Polymenidou

series ordinal

1

1 reference

18 December 2017

publication date

6 January 2017

1 reference

18 December 2017

Cold Spring Harbor Perspectives in Medicine

published in

1 reference

18 December 2017

volume

7

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18 December 2017

issue

11

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18 December 2017

Cell Biology of Prions and Prionoids: A Status Report

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Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

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The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

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ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

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

21 January 2018

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

21 January 2018

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

21 January 2018

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Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

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Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation

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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

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Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43)

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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Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

21 January 2018

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Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild-type subunit function.

21 January 2018

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Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

21 January 2018

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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

21 January 2018

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Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

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TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

21 January 2018

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Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD).

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Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS

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ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

21 January 2018

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Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Residue-by-Residue View of In Vitro FUS Granules that Bind the C-Terminal Domain of RNA Polymerase II

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Emerging principles of conformation-based prion inheritance

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Structural plasticity of the cellular prion protein and implications in health and disease

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

An acetylation switch controls TDP-43 function and aggregation propensity

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 is recruited to stress granules in conditions of oxidative insult.

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A yeast functional screen predicts new candidate ALS disease genes

21 January 2018

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https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Canine degenerative myelopathy: biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Prion-like disorders: blurring the divide between transmissibility and infectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

RNA molecules stimulate prion protein conversion

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Intracellular seeded aggregation of mutant Cu,Zn-superoxide dismutase associated with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Stress granule assembly is mediated by prion-like aggregation of TIA-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 A315T mutation in familial motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Early or late appearance of "dropped head syndrome" in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Intermolecular transmission of superoxide dismutase 1 misfolding in living cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Clinical diagnosis and management of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Human endogenous retrovirus-K contributes to motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

FUS pathology in basophilic inclusion body disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Molecular neuropathology of TDP-43 proteinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A new subtype of frontotemporal lobar degeneration with FUS pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

C9orf72 is required for proper macrophage and microglial function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Highly efficient targeted mutagenesis in mice using TALENs

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A "two-hit" hypothesis for inclusion formation by carboxyl-terminal fragments of TDP-43 protein linked to RNA depletion and impaired microtubule-dependent transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The seeds of neurodegeneration: prion-like spreading in ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Misregulated RNA processing in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 N terminus encodes a novel ubiquitin-like fold and its unfolded form in equilibrium that can be shifted by binding to ssDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Motor neuron disease in 2012: Novel causal genes and disease modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Monomeric Cu,Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

RNA-mediated neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Implications of ALS focality: rostral-caudal distribution of lower motor neuron loss postmortem

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Focality of upper and lower motor neuron degeneration at the clinical onset of ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

State of play in amyotrophic lateral sclerosis genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

How amyotrophic lateral sclerosis got its name: the clinical-pathologic genius of Jean-Martin Charcot

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

RNA seeds higher-order assembly of FUS protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Prions as adaptive conduits of memory and inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Prion Properties of SOD1 in Amyotrophic Lateral Sclerosis and Potential Therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Psychosis, C9ORF72 and dementia with Lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Evaluation of a multifaceted intervention to limit excessive antipsychotic co-prescribing in schizophrenia out-patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Generating a prion with bacterially expressed recombinant prion protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

TDP-43 mutation in familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Non-ATG-initiated translation directed by microsatellite expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FCSHPERSPECT.A024133

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury

21 January 2018

1 reference

12 December 2020

TDP-43 and FUS: a nuclear affair

1 reference

12 December 2020

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

1 reference

12 December 2020

Increased expression of TDP-43 in the skin of amyotrophic lateral sclerosis

1 reference

12 December 2020

Roles of zinc and copper in modulating the oxidative refolding of bovine copper, zinc superoxide dismutase

1 reference

12 December 2020

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

1 reference

12 December 2020

Prevalence of SOD1 mutations in the Italian ALS population

1 reference

12 December 2020

Experimental transmissibility of mutant SOD1 motor neuron disease

1 reference

12 December 2020

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

12 December 2020

Insoluble Mutant SOD1 Is Partly Oligoubiquitinated in Amyotrophic Lateral Sclerosis Mice

1 reference

12 December 2020

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

1 reference

12 December 2020

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

10.1101/CSHPERSPECT.A024133

Identifiers

DOI

1 reference

18 December 2017

PMC publication ID

5666626

0 references

1 reference

18 December 2017