• Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (PubMed=22952635; PubMed=30497978).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099
Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J., Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R., Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M., Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M., Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J., Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A., Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A., Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E., Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:E43099-E43099(2012)

PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018)