Transcriptomic and proteomic profiling of bi-partite and tri-partite murine iPSC-derived neurospheroids under steady-state and inflammatory condition
Source
Brain, behavior, and immunity - ISSN 0889-1591-121 (2024) p. 1-12
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Source
Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 630-638
Identification of a DLG3 stop mutation in the MRX20 family
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323
Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD)
Source
Frontiers in molecular medicine - ISSN 2674-0095-3 (2024) p. 1-19