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Items: 1 to 20 of 663

1.

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
2.

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
3.

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
4.

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.

5.

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.

6.

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
7.

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.

8.

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.

9.

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
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S.

Ann Neurol. 2016 Nov;80(5):662-673. doi: 10.1002/ana.24777. Epub 2016 Oct 3.

PMID:
27632223
17.

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease.

Davis MY, Johnson CO, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Quinn JF, Chung KA, Peterson-Hiller AL, Rosenthal LS, Dawson TM, Albert MS, Goldman JG, Stebbins GT, Bernard B, Wszolek ZK, Ross OA, Dickson DW, Eidelberg D, Mattis PJ, Niethammer M, Yearout D, Hu SC, Cholerton BA, Smith M, Mata IF, Montine TJ, Edwards KL, Zabetian CP.

JAMA Neurol. 2016 Oct 1;73(10):1217-1224. doi: 10.1001/jamaneurol.2016.2245.

18.

A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers.

Bregman N, Thaler A, Mirelman A, Helmich RC, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Giladi N; LRRK2 Ashkenazi Jewish consortium.

Brain Struct Funct. 2017 Apr;222(3):1207-1218. doi: 10.1007/s00429-016-1271-4. Epub 2016 Jul 11.

PMID:
27401793
19.

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D, Verstraeten A, Wauters E, Engelborghs S, Peeters K, Mattheijssens M, De Deyn PP, Theuns J, Van Broeckhoven C, Cras P.

Neurosci Lett. 2016 Aug 26;629:160-164. doi: 10.1016/j.neulet.2016.07.008. Epub 2016 Jul 7.

PMID:
27397011
20.

GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies.

Gámez-Valero A, Prada-Dacasa P, Santos C, Adame-Castillo C, Campdelacreu J, Reñé R, Gascón-Bayarri J, Ispierto L, Álvarez R, Ariza A, Beyer K.

Mov Disord. 2016 Jul;31(7):1066-70. doi: 10.1002/mds.26593. Epub 2016 Mar 29.

PMID:
27027900

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