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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. 
Abstract:
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, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. Exome s...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2014 
Band / Volume:
95 
Heft / Issue:
Seitenangaben Beitrag:
689-97 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik