Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (Q34451639)

2 August 2017

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (English)

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2 August 2017

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16

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2 August 2017

19

Ludger Schöls

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2 August 2017

1

Matthis Synofzik

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Holger Prokisch

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Holger Prokisch

20

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Doron Rapaport

5

object named as

Doron Rapaport

1 reference

2 August 2017

18

Rebecca Schüle

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2 August 2017

17

Stephan Züchner

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2 August 2017

12

Andreas Fritsche

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2 August 2017

2

Tobias B Haack

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2 August 2017

15

Tim M Strom

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2 August 2017

4

Matteo Gorza

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2 August 2017

3

Robert Kopajtich

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2 August 2017

8

Clemens Freiberg

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2 August 2017

13

Petra Fallier-Becker

1 reference

2 August 2017

14

Richard Zimmermann

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2 August 2017

Markus Greiner

6

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2 August 2017

Caroline Schönfeld

7

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2 August 2017

Stefan Schorr

9

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2 August 2017

Reinhard W Holl

10

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2 August 2017

Michael A Gonzalez

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2 August 2017

language of work or name

English

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publication date

20 November 2014

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American Journal of Human Genetics

2 August 2017

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2 August 2017

95

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2 August 2017

689-697

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2 August 2017

6

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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Genic intolerance to functional variation and the interpretation of personal genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

BiP-mediated closing of the Sec61 channel limits Ca2+ leakage from the ER

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Review on monogenic diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Regulated association of misfolded endoplasmic reticulum lumenal proteins with P58/DNAJc3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

A highly sensitive assay for monitoring the secretory pathway and ER stress

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Control of PERK eIF2alpha kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Role and regulation of the ER chaperone BiP.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Cloning, expression, and cellular localization of the oncogenic 58-kDa inhibitor of the RNA-activated human and mouse protein kinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Severe orthostatic dysregulation associated with Wolfram syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259973

ISPAD Clinical Practice Consensus Guidelines 2014. Definition, epidemiology, and classification of diabetes in children and adolescents

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25466870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.10.013

1 reference

2 August 2017

1 reference

2 August 2017

1 reference