• Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Heterozygous (NHCDR=ND34391).
  

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Schwab A.J., Ebert A.D.
Neurite aggregation and calcium dysfunction in iPSC-derived sensory neurons with Parkinson's disease-related LRRK2 G2019S mutation.
Stem Cell Reports 5:1039-1052(2015)

PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022
Lin L., Goke J., Cukuroglu E., Dranias M.R., VanDongen A.M.J., Stanton L.W.
Molecular features underlying neurodegeneration identified through in vitro modeling of genetically diverse Parkinson's disease patients.
Cell Rep. 15:2411-2426(2016)

PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447
Hallacli E., Kayatekin C., Nazeen S., Wang X.-H., Sheinkopf Z., Sathyakumar S., Sarkar S., Jiang X., Dong X.-J., Di Maio R., Wang W., Keeney M.T., Felsky D., Sandoe J., Vahdatshoar A., Udeshi N.D., Mani D.R., Carr S.A., Lindquist S.L., De Jager P.L., Bartel D.P., Myers C.L., Greenamyre J.T., Feany M.B., Sunyaev S.R., Chung C.-Y., Khurana V.
The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.
Cell 185:2035-2056.e33(2022)