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Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration
Journal article   Open access  Peer reviewed

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

Matthis Synofzik, Tobias B Haack, Robert Kopajtich, Matteo Gorza, Doron Rapaport, Markus Greiner, Caroline Schönfeld, Clemens Freiberg, Stefan Schorr, Reinhard W Holl, …
American journal of human genetics, Vol.95(6), pp.689-697
2014-12-04
PMCID: PMC4259973
PMID: 25466870

Abstract

HSP40 Heat-Shock Proteins - metabolism HSP40 Heat-Shock Proteins - genetics Humans Gene Expression Regulation Diabetes Mellitus, Type 1 - genetics Models, Molecular Male Diabetes Mellitus, Type 1 - diagnostic imaging Multiple System Atrophy - genetics Sequence Analysis, DNA Radiography Young Adult Heat-Shock Proteins - genetics Homozygote Exome - genetics Phenotype Pedigree Adolescent Fibroblasts Adult Female Mutation Ataxia - genetics Multiple System Atrophy - diagnostic imaging
url
https://doi.org/10.1016/j.ajhg.2014.10.013View
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1 Clinical & Life Sciences
1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis
1.25.1406 Unfolded Protein Response
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Genetics & Heredity
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Molecular Biology & Genetics

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