(Q47073358)

5 January 2018

http://europepmc.org/abstract/MED/25410659

title

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD. (English)

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25410659

main subject

amyotrophic lateral sclerosis

1 reference

1 reference

GOA release 2020-03-11

1 reference

1 reference

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Serena Lattante

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Hortense de Calbiac

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Isabelle Le Ber

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sorana Ciura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Edor Kabashi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

19 November 2014

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25410659

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

1682-1690

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

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

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

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

21 January 2018

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Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

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SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

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Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

21 January 2018

1 reference

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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

21 January 2018

1 reference

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SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

p62 is a key regulator of nutrient sensing in the mTORC1 pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Mature-onset obesity and insulin resistance in mice deficient in the signaling adapter p62.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Behavioral effects of SQSTM1/p62 overexpression in mice: support for a mitochondrial role in depression and anxiety

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

In the swim of things: recent insights to neurogenetic disorders from zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Methylene blue protects against TDP-43 and FUS neuronal toxicity in C. elegans and D. rerio

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Early interneuron dysfunction in ALS: insights from a mutant sod1 zebrafish model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Neuromuscular effects of G93A-SOD1 expression in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Zebrafish: a see-through host and a fluorescent toolbox to probe host-pathogen interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Regulation of autophagy by neuropathological protein TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Autophagy activation ameliorates neuronal pathogenesis of FTLD-U mice: a new light for treatment of TARDBP/TDP-43 proteinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

Regulation of TDP-43 aggregation by phosphorylation and p62/SQSTM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU580

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/10.1093%2FHMG%2FDDU580

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/10.1093%2FHMG%2FDDU580

21 January 2018

Identifiers

DOI

10.1093/HMG/DDU580

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25410659%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference