TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

about

RNA-Binding Proteins in Amyotrophic Lateral Sclerosis

P2860

Q58692328-9CC23740-EE46-4485-AA5A-501A7CD94FCF

P2860

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Item

http://www.wikidata.org/entity/Q49851062

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@en

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@nl

type

Item

label

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@en

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@nl

prefLabel

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@en

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

@nl

P1476

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

@en

P2093

Anna Vihola

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

Anni Evilä

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

Asim Azfer

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

Bjarne Udd

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

Carolyn Sue

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

Conrad C Weihl

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

Cornelia Kornblum

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

David Hilton-Jones

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

Hans Goebel

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

J Paul Taylor

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

P2860

Multisystem proteinopathy: Intersecting genetics in muscle, bone, and brain degeneration

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

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

Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function

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

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

Analysis of protein-coding genetic variation in 60,706 humans

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

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

P304

1164-1177

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

P31

scholarly article

P356

10.1172/JCI97103

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

P407

English

P433

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

P478

128

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

P50

P577

2018-02-19T00:00:00Z

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

P698

29457785

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

P932

5824866

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

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

about

P2860

P2860

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932