Ontology highlight
ABSTRACT:
SUBMITTER: Oudejans E
PROVIDER: S-EPMC10765115 | biostudies-literature | 2024 Mar
REPOSITORIES: biostudies-literature
Oudejans Ellen E Witkamp Diede D Hu-A-Ng Gino V GV Hoogterp Leoni L van Rooijen-van Leeuwen Gemma G Kruijff Iris I Schonewille Pleun P Lalaoui El Mouttalibi Zeinab Z Bartelink Imke I van der Knaap Marjo S MS Abbink Truus Em TE
Life science alliance 20240103 3
The leukodystrophy vanishing white matter (VWM) is characterized by chronic and episodic acute neurological deterioration. Curative treatment is presently unavailable. Pathogenic variants in the genes encoding eukaryotic initiation factor 2B (eIF2B) cause VWM and deregulate the integrated stress response (ISR). Previous studies in VWM mouse models showed that several ISR-targeting compounds ameliorate clinical and neuropathological disease hallmarks. It is unclear which ISR components are suitab ...[more]