Ontology highlight
ABSTRACT:
SUBMITTER: Zatyka M
PROVIDER: S-EPMC10202695 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Zatyka Malgorzata M Rosenstock Tatiana R TR Sun Congxin C Palhegyi Adina M AM Hughes Georgina W GW Lara-Reyna Samuel S Astuti Dewi D di Maio Alessandro A Sciauvaud Axel A Korsgen Miriam E ME Stanulovic Vesna V Kocak Gamze G Rak Malgorzata M Pourtoy-Brasselet Sandra S Winter Katherine K Varga Thiago T Jarrige Margot M Polvèche Hélène H Correia Joao J Frickel Eva-Maria EM Hoogenkamp Maarten M Ward Douglas G DG Aubry Laetitia L Barrett Timothy T Sarkar Sovan S
Stem cell reports 20230501 5
Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident protein WFS1 causes Wolfram syndrome (WS), a rare early-onset neurodegenerative disease that has been linked to mitochondrial abnormalities. Here we demonstrate mitochondrial dysfunction in human induced pluripotent stem cell-derived neuronal ce ...[more]