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Article

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

American journal of human genetics - 4 Dec 2014

Synofzik Matthis, Haack Tobias B, Kopajtich Robert, Gorza Matteo, Rapaport Doron, Greiner Markus, Schönfeld Caroline, Freiberg Clemens, Schorr Stefan, Holl Reinhard W, Gonzalez Michael A, Fritsche Andreas, Fallier-Becker Petra, Zimmermann Richard, Strom Tim M, Meitinger Thomas, Züchner Stephan, Schüle Rebecca, Schöls Ludger, Prokisch Holger

Abstract excerpt

Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum Chaperone BiP

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Identifiers

PMID: 25466870
DOI: 10.1016/j.ajhg.2014.10.013
PMCID: PMC4259973

Genes

DNAJC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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