PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210442120
Abstract: Significance This study carries immediate significance and novelty from following perspectives: (a) It provides the first line of in vivo and ex vivo evidence demonstrating the crucial role of PGRN in GBA1 mutation-related diseases (i.e.,… read more here.
Keywords: penetrant pgrn; gba1 mutation; brain penetrant; pgrn ... See more keywords
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac038
Abstract: Cognitive impairment is a common non-motor complication of Parkinson disease (PD). Glucocerebrosidase gene (GBA1) variants are found in 10-15% of PD cases and are numerically the most important risk factor for PD and dementia with… read more here.
Keywords: synuclein tau; n370s gba1; cholinergic neurons; gba1 mutation ... See more keywords