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Items: 1 to 20 of 310

1.

Mitochondrial dysfunction associated with glucocerebrosidase deficiency.

Gegg ME, Schapira AH.

Neurobiol Dis. 2016 Jun;90:43-50. doi: 10.1016/j.nbd.2015.09.006. Epub 2015 Sep 24.

2.

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.

Awad O, Sarkar C, Panicker LM, Miller D, Zeng X, Sgambato JA, Lipinski MM, Feldman RA.

Hum Mol Genet. 2015 Oct 15;24(20):5775-88. doi: 10.1093/hmg/ddv297. Epub 2015 Jul 28.

PMID:
26220978
3.

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.

Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.

PMID:
26117366
4.

No evidence for substrate accumulation in Parkinson brains with GBA mutations.

Gegg ME, Sweet L, Wang BH, Shihabuddin LS, Sardi SP, Schapira AH.

Mov Disord. 2015 Jul;30(8):1085-9. doi: 10.1002/mds.26278. Epub 2015 Jun 11.

5.

Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.

Mattošová S, Chandoga J, Hlavatá A, Saligová J, Maceková D.

Isr Med Assoc J. 2015 Mar;17(3):166-70.

6.

Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation.

Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ.

Exp Mol Med. 2015 Mar 27;47:e153. doi: 10.1038/emm.2014.128. Erratum in: Exp Mol Med. 2015;47:e188.

7.

Differential effects of severe vs mild GBA mutations on Parkinson disease.

Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A.

Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.

8.

Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.

Gruschus JM, Jiang Z, Yap TL, Hill SA, Grishaev A, Piszczek G, Sidransky E, Lee JC.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):561-6. doi: 10.1016/j.bbrc.2015.01.024. Epub 2015 Jan 17.

9.

Increased glucocerebrosidase expression and activity in preeclamptic placenta.

Jebbink JM, Boot RG, Keijser R, Moerland PD, Aten J, Veenboer GJ, van Wely M, Buimer M, Ver Loren van Themaat E, Aerts JM, van der Post JA, Afink GB, Ris-Stalpers C.

Placenta. 2015 Feb;36(2):160-9. doi: 10.1016/j.placenta.2014.12.001. Epub 2014 Dec 13.

PMID:
25552189
10.

Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.

Chen J, Li W, Zhang T, Wang YJ, Jiang XJ, Xu ZQ.

PLoS One. 2014 Dec 23;9(12):e115747. doi: 10.1371/journal.pone.0115747. eCollection 2014.

11.

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.

Yu Z, Wang T, Xu J, Wang W, Wang G, Chen C, Zheng L, Pan L, Gong D, Li X, Qu H, Li F, Zhang B, Le W, Han F.

J Hum Genet. 2015 Feb;60(2):85-90. doi: 10.1038/jhg.2014.110. Epub 2014 Dec 18.

PMID:
25518742
12.

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH.

JAMA Neurol. 2015 Feb;72(2):201-8. doi: 10.1001/jamaneurol.2014.2950.

13.

GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study.

Brockmann K, Srulijes K, Pflederer S, Hauser AK, Schulte C, Maetzler W, Gasser T, Berg D.

Mov Disord. 2015 Mar;30(3):407-11. doi: 10.1002/mds.26071. Epub 2014 Dec 1.

PMID:
25448271
14.

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S.

Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9.

15.

Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.

Malec-Litwinowicz M, Rudzińska M, Szubiga M, Michalski M, Tomaszewski T, Szczudlik A.

Neurol Neurochir Pol. 2014;48(4):258-61. doi: 10.1016/j.pjnns.2014.07.005. Epub 2014 Jul 29.

PMID:
25168325
16.

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J.

Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30.

PMID:
25084554
17.

Glucocerebrosidase mutations in Thai patients with Parkinson's disease.

Pulkes T, Choubtum L, Chitphuk S, Thakkinstian A, Pongpakdee S, Kulkantrakorn K, Hanchaiphiboolkul S, Tiamkao S, Boonkongchuen P.

Parkinsonism Relat Disord. 2014 Sep;20(9):986-91. doi: 10.1016/j.parkreldis.2014.06.007. Epub 2014 Jun 23.

PMID:
24997549
18.

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.

Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MT, Schapira AH, Husain M.

Brain. 2014 Aug;137(Pt 8):2303-11. doi: 10.1093/brain/awu143. Epub 2014 Jun 11.

19.

iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.

Schöndorf DC, Aureli M, McAllister FE, Hindley CJ, Mayer F, Schmid B, Sardi SP, Valsecchi M, Hoffmann S, Schwarz LK, Hedrich U, Berg D, Shihabuddin LS, Hu J, Pruszak J, Gygi SP, Sonnino S, Gasser T, Deleidi M.

Nat Commun. 2014 Jun 6;5:4028. doi: 10.1038/ncomms5028.

PMID:
24905578
20.

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, Nichols W, Rana HQ, Balwani M, Bier L, Elstein D, Zimran A.

JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313.

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