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Items: 1 to 20 of 309

1.

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Török R, Zádori D, Török N, Csility É, Vécsei L, Klivényi P.

Neurosci Lett. 2016 Jan 1;610:135-8. doi: 10.1016/j.neulet.2015.11.001. Epub 2015 Nov 4.

PMID:
26547032
2.

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.

Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA, Weisswange I, Mansfeld J, Buchholz F, Hyman AA, Mann M.

Cell. 2015 Oct 22;163(3):712-23. doi: 10.1016/j.cell.2015.09.053. Epub 2015 Oct 22.

PMID:
26496610
3.

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.

4.

Panorama of ancient metazoan macromolecular complexes.

Wan C, Borgeson B, Phanse S, Tu F, Drew K, Clark G, Xiong X, Kagan O, Kwan J, Bezginov A, Chessman K, Pal S, Cromar G, Papoulas O, Ni Z, Boutz DR, Stoilova S, Havugimana PC, Guo X, Malty RH, Sarov M, Greenblatt J, Babu M, Derry WB, Tillier ER, Wallingford JB, Parkinson J, Marcotte EM, Emili A.

Nature. 2015 Sep 17;525(7569):339-44. doi: 10.1038/nature14877. Epub 2015 Sep 7.

PMID:
26344197
5.

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
6.

Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease.

Gruschus JM.

PLoS One. 2015 Jul 27;10(7):e0133863. doi: 10.1371/journal.pone.0133863. eCollection 2015.

7.

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
8.

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.

9.

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

Malini E, Zampieri S, Deganuto M, Romanello M, Sechi A, Bembi B, Dardis A.

FASEB J. 2015 Sep;29(9):3839-52. doi: 10.1096/fj.15-271148. Epub 2015 May 27.

PMID:
26018676
10.

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.

Spitz M, Pereira JS, Nicareta DH, Abreu Gde M, Bastos EF, Seixas TL, Pimentel MM.

Parkinsonism Relat Disord. 2015 Jul;21(7):825-6. doi: 10.1016/j.parkreldis.2015.03.029. Epub 2015 May 2. No abstract available.

PMID:
25952961
11.

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.

12.

Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation.

Emdal KB, Pedersen AK, Bekker-Jensen DB, Tsafou KP, Horn H, Lindner S, Schulte JH, Eggert A, Jensen LJ, Francavilla C, Olsen JV.

Sci Signal. 2015 Apr 28;8(374):ra40. doi: 10.1126/scisignal.2005769.

PMID:
25921289
13.

Impact of Parkinson's disease risk loci on age at onset.

Lill CM, Hansen J, Olsen JH, Binder H, Ritz B, Bertram L.

Mov Disord. 2015 May;30(6):847-50. doi: 10.1002/mds.26237. Epub 2015 Apr 25.

PMID:
25914293
14.

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.

15.

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.

16.

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.

17.

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.

Yang C, Wang H, Zhu D, Hong CS, Dmitriev P, Zhang C, Li Y, Ikejiri B, Brady RO, Zhuang Z.

Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1137-42. doi: 10.1073/pnas.1424288112. Epub 2015 Jan 12.

18.

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
19.

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.

20.

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
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