(Q24306218)

limb-girdle muscular dystrophy

GOA release 2020-03-11

1 reference

20

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Ibrahim Mahjneh

Ibrahim Mahjneh

9

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Kristin K McDonald

Kristin McDonald

7

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Per Harald Jonson

Per Harald Jonson

2

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Jaakko Sarparanta

Jaakko Sarparanta

1

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Christelle Golzio

Christelle Golzio

3

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Giorgio Tasca

Giorgio Tasca

16

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Enzo Ricci

Enzo Ricci

17

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Sanna Huovinen

Sanna Huovinen

14

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author name string

Satu Sandell

4

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Helena Luque

5

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Mark Screen

6

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Jeffrey M Stajich

8

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Anna Vihola

10

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Olayinka Raheem

11

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Sini Penttilä

12

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Sara Lehtinen

13

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Johanna Palmio

15

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Peter Hackman

18

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Michael Hauser

19

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Bjarne Udd

describes a project that uses

21

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language of work or name

English

0 references

publication date

April 2012

0 references

published in

Nature Genetics

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volume

44

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page(s)

450-5, S1-2

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issue

4

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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