Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D-Reference-Cited by-同舟云学术

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Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

Published:2015-09-11 Issue:23 Volume:24 Page:6588-6602
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Bengoechea Rocio,Pittman Sara K.,Tuck Elizabeth P.,True Heather L.,Weihl Conrad C.

Funder

NIH

the Muscular Dystrophy Association

the Myositis Association

the Hope Center for Neurological Disorders

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/23/6588/17262262/ddv363.pdf

Reference37 articles.

1. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

2. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

3. The HSP70 chaperone machinery: J proteins as drivers of functional specificity

4. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

5. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease;Palmio;Neuromuscul. Disord.,2015

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1. Mrj is a chaperone of the Hsp40 family that regulates Orb2 oligomerization and long-term memory in Drosophila;PLOS Biology;2024-04-22

2. Tertiary structure and conformational dynamics of the anti-amyloidogenic chaperone DNAJB6b at atomistic resolution;Nature Communications;2024-04-16

3. Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model;Human Molecular Genetics;2024-04-15

4. Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study;BMC Neurology;2024-03-15

5. DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones;Nature Communications;2023-11-03

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