Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy (Q24306218)

limb-girdle muscular dystrophy

GOA release 2020-03-11

1 reference

20

0 references

Ibrahim Mahjneh

Ibrahim Mahjneh

9

0 references

Kristin K McDonald

Kristin McDonald

7

0 references

Per Harald Jonson

Per Harald Jonson

2

0 references

Jaakko Sarparanta

Jaakko Sarparanta

1

0 references

Christelle Golzio

Christelle Golzio

3

0 references

Giorgio Tasca

Giorgio Tasca

16

0 references

Enzo Ricci

Enzo Ricci

17

0 references

Sanna Huovinen

Sanna Huovinen

14

0 references

author name string

Satu Sandell

4

0 references

Helena Luque

5

0 references

Mark Screen

6

0 references

Jeffrey M Stajich

8

0 references

Anna Vihola

10

0 references

Olayinka Raheem

11

0 references

Sini Penttilä

12

0 references

Sara Lehtinen

13

0 references

Johanna Palmio

15

0 references

Peter Hackman

18

0 references

Michael Hauser

19

0 references

Bjarne Udd

describes a project that uses

21

0 references

language of work or name

English

0 references

publication date

April 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

4

0 references

page(s)

450-5, S1-2

0 references

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3315599/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The diverse members of the mammalian HSP70 machine show distinct chaperone-like activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Alternative isoform regulation in human tissue transcriptomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Stages of embryonic development of the zebrafish

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Chaperone-assisted selective autophagy is essential for muscle maintenance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

CHIP-mediated stress recovery by sequential ubiquitination of substrates and Hsp70

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Mutations in myotilin cause myofibrillar myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Characterization of two isoforms of a human DnaJ homologue, HSJ2

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

19 March 2017

Cloning, tissue expression, and chromosomal assignment of human MRJ gene for a member of the DNAJ protein family

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

The Hsp40 family chaperone protein DnaJB6 enhances Schlafen1 nuclear localization which is critical for promotion of cell-cycle arrest in T-cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Chaperone-assisted degradation: multiple paths to destruction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Proteasome inhibitors activate autophagy as a cytoprotective response in human prostate cancer cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Large isoform of MRJ (DNAJB6) reduces malignant activity of breast cancer.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Linking of autophagy to ubiquitin-proteasome system is important for the regulation of endoplasmic reticulum stress and cell viability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Antisense downregulation of mutant huntingtin in a cell model.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

The glycine-phenylalanine-rich region determines the specificity of the yeast Hsp40 Sis1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

The conserved G/F motif of the DnaJ chaperone is necessary for the activation of the substrate binding properties of the DnaK chaperone

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Role of DnaJ G/F-rich domain in conformational recognition and binding of protein substrates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315599

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

30 May 2018

1 reference

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

21 January 2018

1 reference

The role of the DIF motif of the DnaJ (Hsp40) co-chaperone in the regulation of the DnaK (Hsp70) chaperone cycle

21 January 2018

1 reference

DnaJB6 is present in the core of Lewy bodies and is highly up-regulated in parkinsonian astrocytes.

21 January 2018

1 reference

Characterization of mouse myotilin and its promoter

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366786

12 December 2020

inferred from PubMed ID database lookup

The Mrj co-chaperone mediates keratin turnover and prevents the formation of toxic inclusion bodies in trophoblast cells of the placenta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366786

12 December 2020

inferred from PubMed ID database lookup

Non-pathogenic protein aggregates in skeletal muscle in MLF1 transgenic mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366786

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.1103

1 reference

Dimensions Publication ID

3096570

1027510810

0 references

3096570

1 reference

1 reference

1 reference