Ontology highlight
ABSTRACT:
SUBMITTER: Brekk OR
PROVIDER: S-EPMC7409708 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Brekk Oeystein R OR Korecka Joanna A JA Crapart Cecile C CC Huebecker Mylene M MacBain Zachary K ZK Rosenthal Sara Ann SA Sena-Esteves Miguel M Priestman David A DA Platt Frances M FM Isacson Ole O Hallett Penelope J PJ
Acta neuropathologica communications 20200806 1
Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of β-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson's disease (PD). α-synuclein (aSYN) inclusions, the diagnostic hallmark sign of PD, are frequently found in the brain in SD patients and HEX knockout mice, and HEX activity is reduced in the substantia nigra in PD. In this study, we biochemically demonstrate that HEX deficiency in mice causes fo ...[more]