OtherMolecular autism2023
SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.
Mattia Zaghi, Fabiana Longo, Luca Massimino, Alicia Rubio, Simone Bido, Pietro Giuseppe Mazzara, Edoardo Bellini, Federica Banfi, Paola Podini, Francesca Maltecca, Alessio Zippo, Vania Broccoli, Alessandro Sessa
PMID 37264456WHAT IT FOUND
What this paper is
This is a basic science study investigating the molecular mechanisms of SETD5 haploinsufficiency in neural stem cells and mouse models. It reports on mitochondrial gene transcription, structural changes, and metabolic defects in cells and animals. It does not involve human participants, clinical outcomes, or therapeutic interventions, so there is no finding here to change clinical practice.