Parkinson’s disease gene, Synaptojanin1, dysregulates the surface maintenance of the dopamine transporter
Author:
Funder
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41531-024-00769-0.pdf
Reference98 articles.
1. Krebs, C. E. et al. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum. Mutat. 34, 1200–1207 (2013).
2. Quadri, M. et al. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum. Mutat. 34, 1208–1215 (2013).
3. Olgiati, S. et al. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. Neurogenetics 15, 183–188 (2014).
4. Kirola, L. et al. Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. Parkinsonism Relat. Disord. 31, 124–128 (2016).
5. Rauschendorf, M. A. et al. Novel compound heterozygous synaptojanin-1 mutation causes l-DOPA-responsive dystonia-Parkinsonism syndrome. Mov. Disord. 32, 478–480 (2017).
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