Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 - Wikidata - wikimedia - TriplyDB

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

http://www.wikidata.org/entity/Q28293376

about

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Programmed necrosis in the cross talk of cell death and inflammation A novel mouse model that recapitulates adult-onset glycogenosis type 4 Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection.A new muscle glycogen storage disease associated with glycogenin-1 deficiency Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies.Linear ubiquitination by LUBEL has a role in Drosophila heat stress response.--LUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammation.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.Roles of linear ubiquitinylation, a crucial regulator of NF-κB and cell death, in the immune system.The multifaceted role of the E3 ubiquitin ligase HOIL-1: beyond linear ubiquitination.Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency.Myopathology in the times of modern genetics.Linear ubiquitin chains: enzymes, mechanisms and biology GYG1 gene mutations in a family with polyglucosan body myopathy.Differential Involvement of the Npl4 Zinc Finger Domains of SHARPIN and HOIL-1L in Linear Ubiquitin Chain Assembly Complex-Mediated Cell Death Protection The investigation and management of metabolic myopathies.Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.The role of the clinician in the multi-omics era: are you ready?Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.Cooperative Domain Formation by Homologous Motifs in HOIL-1L and SHARPIN Plays A Crucial Role in LUBAC Stabilization.A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.Linear ubiquitin chains: NF-κB signalling, cell death and beyond.Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders Familial polyglucosan body myopathy with unusual phenotype

P2860

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P2860

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

http://www.wikidata.org/entity/Q28293376

description

2013 nî lūn-bûn

@nan

2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@ast

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@en

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@nl

type

label

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@ast

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@en

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@nl

prefLabel

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@ast

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@en

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@nl

P1433

Q28293376-AE4A7A47-1339-4171-9988-DECCCCCB26CC

P1476

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P2860

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P3181

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P3181

P356

P1433

Annals of Neurology

P1476

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

@en

P2093

Anders Oldfors

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

Andrew G Engel

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

Christian Eggers

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

Christopher Lindberg

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

Hasan O Akman

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

Johanna Nilsson

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

Marcela Dávila López

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

Norma B Romero

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

Ognian Kalev

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

Pascal Laforet

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

P2860

Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

SINK is a p65-interacting negative regulator of NF-kappaB-dependent transcription

Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development

Signaling to NF-kappaB

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

P304

914-919

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

P31

scholarly article

P3181

192179

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

P356

10.1002/ANA.23963

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

P407

P433

6

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

P478

74

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

P50

Benedikt Schoser

P577

2013-12-01T00:00:00Z

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

P5875

242018584

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

P698

23798481

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