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

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

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

http://www.wikidata.org/entity/Q37636742

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Impact of air pollutants on oxidative stress in common autophagy-mediated aging diseases Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.SQSTM1 Mutations and Glaucoma.Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis Clinical and Genetic Advances in Paget's Disease of Bone: a Review.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Paget's disease of bone-genetic and environmental factors.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort.

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P2860

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

http://www.wikidata.org/entity/Q37636742

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 14 August 2013

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Sequestosome-1 (SQSTM1) sequen ...... tions in ALS kindred with PDB.

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Sequestosome-1

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type

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Sequestosome-1 (SQSTM1) sequen ...... tions in ALS kindred with PDB.

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Sequestosome-1

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Sequestosome-1 (SQSTM1) sequen ...... tions in ALS kindred with PDB.

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Sequestosome-1

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European Journal of Human Genetics

P1476

Sequestosome-1 (SQSTM1) sequen ...... tions in ALS kindred with PDB.

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P2093

Alex Morris

http://www.w3.org/2001/XMLSchema#string

Chun T Kwok

http://www.w3.org/2001/XMLSchema#string

Jacqueline S de Belleroche

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P2860

Structure and functional properties of the ubiquitin binding protein p62

Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis

Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone

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

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

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

Signal integration and diversification through the p62 scaffold protein.

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

P2888

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492-496

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scholarly article

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10.1038/EJHG.2013.184

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4

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22

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2013-08-14T00:00:00Z

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255951921

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23942205

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amyotrophic lateral sclerosis

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