Ontology highlight
ABSTRACT:
SUBMITTER: Saenz J
PROVIDER: S-EPMC11310474 | biostudies-literature | 2024 Aug
REPOSITORIES: biostudies-literature
Saenz Jacqueline J Khezerlou Elnaz E Aggarwal Meha M Shaikh Amina A Ganti Naga N Herborg Freja F Pan Ping-Yue PY
NPJ Parkinson's disease 20240808 1
Missense mutations of PARK20/SYNJ1 (synaptojanin1/Synj1) were found in complex forms of familial Parkinsonism. However, the Synj1-regulated molecular and cellular changes associated with dopaminergic dysfunction remain unknown. We now report a fast depletion of evoked dopamine and impaired maintenance of the axonal dopamine transporter (DAT) in the Synj1 haploinsufficient (Synj1+/-) neurons. While Synj1 has been traditionally known to facilitate the endocytosis of synaptic vesicles, we provide i ...[more]