• Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35688132).
  

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)

PubMed=39079530; DOI=10.1016/j.neuron.2024.06.002; PMCID=PMC11377155
Lam I., Ndayisaba A., Lewis A.J., Fu Y.-H., Sagredo G.T., Kuzkina A., Zaccagnini L., Celikag M., Sandoe J., Sanz R.L., Vahdatshoar A., Martin T.D., Morshed N., Ichihashi T., Tripathi A., Ramalingam N., Oettgen-Suazo C., Bartels T., Boussouf M., Schabinger M., Hallacli E., Jiang X., Verma A., Tea C., Wang Z.-C., Hakozaki H., Yu X., Hyles K., Park C., Wang X.-Y., Theunissen T.W., Wang H.-Y., Jaenisch R., Lindquist S.L., Stevens B., Stefanova N., Wenning G.K., van de Berg W.D.J., Luk K.C., Sanchez-Pernaute R., Gomez-Esteban J.C., Felsky D., Kiyota Y., Sahni N., Yi S.S., Chung C.-Y., Stahlberg H., Ferrer I., Schoneberg J., Elledge S.J., Dettmer U., Halliday G.M., Bartels T., Khurana V.
Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of alpha-synuclein inclusions.
Neuron 112:2886-2909.e16(2024)