Ontology highlight
ABSTRACT:
SUBMITTER: Pourtoy-Brasselet S
PROVIDER: S-EPMC8595949 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Pourtoy-Brasselet Sandra S Sciauvaud Axel A Boza-Moran Maria-Gabriela MG Cailleret Michel M Jarrige Margot M Polvèche Hélène H Polentes Jérôme J Chevet Eric E Martinat Cécile C Peschanski Marc M Aubry Laetitia L
American journal of human genetics 20211025 11
Recent studies indicate that neurodegenerative processes that appear during childhood and adolescence in individuals with Wolfram syndrome (WS) occur in addition to early brain development alteration, which is clinically silent. Underlying pathological mechanisms are still unknown. We have used induced pluripotent stem cell-derived neural cells from individuals affected by WS in order to reveal their phenotypic and molecular correlates. We have observed that a subpopulation of Wolfram neurons di ...[more]