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Items: 1 to 20 of 358

1.

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.

Sato S, Li Y, Hattori N.

J Neural Transm (Vienna). 2017 Nov;124(11):1395-1400. doi: 10.1007/s00702-017-1779-7. Epub 2017 Sep 11. Review.

PMID:
28894968
2.

GBA mutations in Parkinson disease: earlier death but similar neuropathological features.

Adler CH, Beach TG, Shill HA, Caviness JN, Driver-Dunckley E, Sabbagh MN, Patel A, Sue LI, Serrano G, Jacobson SA, Davis K, Belden CM, Dugger BN, Paciga SA, Winslow AR, Hirst WD, Hentz JG.

Eur J Neurol. 2017 Nov;24(11):1363-1368. doi: 10.1111/ene.13395. Epub 2017 Aug 17.

PMID:
28834018
3.

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.

Moran EE, Wang C, Katz M, Ozelius L, Schwartz A, Pavlovic J, Ortega RA, Lipton RB, Zimmerman ME, Saunders-Pullman R.

Neurobiol Aging. 2017 Oct;58:239.e1-239.e7. doi: 10.1016/j.neurobiolaging.2017.06.010. Epub 2017 Jun 24.

PMID:
28728889
4.

A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism.

Akiyama H, Hirabayashi Y.

Biochim Biophys Acta. 2017 Oct;1861(10):2507-2514. doi: 10.1016/j.bbagen.2017.06.003. Epub 2017 Jun 6. Review.

PMID:
28596107
5.

Signalome-wide RNAi screen identifies GBA1 as a positive mediator of autophagic cell death.

Dasari SK, Bialik S, Levin-Zaidman S, Levin-Salomon V, Merrill AH Jr, Futerman AH, Kimchi A.

Cell Death Differ. 2017 Jul;24(7):1288-1302. doi: 10.1038/cdd.2017.80. Epub 2017 Jun 2.

6.

Architecture of the human interactome defines protein communities and disease networks.

Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW.

Nature. 2017 May 25;545(7655):505-509. doi: 10.1038/nature22366. Epub 2017 May 17.

7.

Successful newborn screening for Gaucher disease using fluorometric assay in China.

Kang L, Zhan X, Gu X, Zhang H.

J Hum Genet. 2017 Aug;62(8):763-768. doi: 10.1038/jhg.2017.36. Epub 2017 Mar 30.

8.

Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.

Nakata K, Takeda S, Tanaka A, Kwang J, Komano J.

J Gen Virol. 2017 Apr;98(4):643-651. doi: 10.1099/jgv.0.000723. Epub 2017 Apr 22.

PMID:
28141506
9.

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase.

Abdul-Hammed M, Breiden B, Schwarzmann G, Sandhoff K.

J Lipid Res. 2017 Mar;58(3):563-577. doi: 10.1194/jlr.M073510. Epub 2017 Jan 26.

10.

Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.

Squillaro T, Antonucci I, Alessio N, Esposito A, Cipollaro M, Melone MAB, Peluso G, Stuppia L, Galderisi U.

J Cell Physiol. 2017 Dec;232(12):3454-3467. doi: 10.1002/jcp.25807. Epub 2017 Feb 7.

PMID:
28098348
11.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

Jesús S, Huertas I, Bernal-Bernal I, Bonilla-Toribio M, Cáceres-Redondo MT, Vargas-González L, Gómez-Llamas M, Carrillo F, Calderón E, Carballo M, Gómez-Garre P, Mir P.

PLoS One. 2016 Dec 28;11(12):e0167749. doi: 10.1371/journal.pone.0167749. eCollection 2016.

12.

A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

Thaler A, Gurevich T, Bar Shira A, Gana Weisz M, Ash E, Shiner T, Orr-Urtreger A, Giladi N, Mirelman A.

Parkinsonism Relat Disord. 2017 Mar;36:47-51. doi: 10.1016/j.parkreldis.2016.12.014. Epub 2016 Dec 16.

PMID:
28012950
13.

Norrbottnian clinical variant of Gaucher disease in Southern Italy.

Sestito S, Filocamo M, Ceravolo F, Falvo F, Grisolia M, Moricca MT, Cantaffa R, Grossi S, Strisciuglio P, Concolino D.

J Hum Genet. 2017 Apr;62(4):507-511. doi: 10.1038/jhg.2016.158. Epub 2016 Dec 22.

PMID:
28003644
14.

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Amico G, Grossi S, Vijzelaar R, Lanza F, Mazzotti R, Corsolini F, Ketema M, Filocamo M.

Mol Genet Metab. 2016 Dec;119(4):329-337. doi: 10.1016/j.ymgme.2016.10.008. Epub 2016 Oct 27.

PMID:
27802905
15.

Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease.

Pchelina S, Emelyanov A, Baydakova G, Andoskin P, Senkevich K, Nikolaev M, Miliukhina I, Yakimovskii A, Timofeeva A, Fedotova E, Abramycheva N, Usenko T, Kulabukhova D, Lavrinova A, Kopytova A, Garaeva L, Nuzhnyi E, Illarioshkin S, Zakharova E.

Neurosci Lett. 2017 Jan 1;636:70-76. doi: 10.1016/j.neulet.2016.10.039. Epub 2016 Oct 22.

PMID:
27780739
16.

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21.

PMID:
27777137
17.

Neuropsychiatric characteristics of GBA-associated Parkinson disease.

Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R.

J Neurol Sci. 2016 Nov 15;370:63-69. doi: 10.1016/j.jns.2016.08.059. Epub 2016 Aug 30.

18.

Association between common genetic risk variants and depression in Parkinson's disease: A dPD study in Chinese.

Dan X, Wang C, Zhang J, Gu Z, Zhou Y, Ma J, Chan P.

Parkinsonism Relat Disord. 2016 Dec;33:122-126. doi: 10.1016/j.parkreldis.2016.09.029. Epub 2016 Sep 29.

PMID:
27745782
19.

High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.

Shiner T, Mirelman A, Gana Weisz M, Bar-Shira A, Ash E, Cialic R, Nevler N, Gurevich T, Bregman N, Orr-Urtreger A, Giladi N.

JAMA Neurol. 2016 Dec 1;73(12):1448-1453. doi: 10.1001/jamaneurol.2016.1593.

PMID:
27723861
20.

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Liu G, Boot B, Locascio JJ, Jansen IE, Winder-Rhodes S, Eberly S, Elbaz A, Brice A, Ravina B, van Hilten JJ, Cormier-Dequaire F, Corvol JC, Barker RA, Heutink P, Marinus J, Williams-Gray CH, Scherzer CR; International Genetics of Parkinson Disease Progression (IGPP) Consortium.

Ann Neurol. 2016 Nov;80(5):674-685. doi: 10.1002/ana.24781.

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