Article
Synaptojanin1 regulates lysosomal functions in ventral midbrain neurons
2022-10-14
Abstract excerpt
A major pathological hallmark of Parkinson’s Disease (PD) is the manifestation of Lewy bodies comprised of alpha-synuclein (α-syn). The accumulation of α-syn enriched protein aggregates is thought to arise from dysfunction in degradation systems within the brain. Recently, missense mutations of SYNJ1 encoding the SAC1 and 5’-phosphatase domains have been found in families with hereditary early-onset Parkinsonism....
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Identifiers and source
- Literature Corpus work
- ac08321e-9aec-5eb7-932c-c5b319649060
- DOI
- 10.1101/2022.10.14.512269
