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Items: 1 to 20 of 98

1.

Pathological Mechanisms and Clinical Aspects of GBA1 Mutation-Associated Parkinson’s Disease.

Stoker TB, Torsney KM, Barker RA.

In: Stoker TB, Greenland JC, editors. Parkinson’s Disease: Pathogenesis and Clinical Aspects [Internet]. Brisbane (AU): Codon Publications; 2018 Dec 21. Chapter 3.

2.

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A, Schapira AH.

J Neurochem. 2016 Oct;139 Suppl 1:77-90. doi: 10.1111/jnc.13385. Epub 2016 Feb 10. Review.

3.

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.

García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R.

Mov Disord. 2017 Oct;32(10):1409-1422. doi: 10.1002/mds.27119. Epub 2017 Aug 5.

PMID:
28779532
4.

Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.

Blanz J, Saftig P.

J Neurochem. 2016 Oct;139 Suppl 1:198-215. doi: 10.1111/jnc.13517. Epub 2016 Feb 10. Review.

5.

Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle.

Sardi SP, Cheng SH, Shihabuddin LS.

Prog Neurobiol. 2015 Feb;125:47-62. doi: 10.1016/j.pneurobio.2014.12.001. Epub 2015 Jan 6. Review.

6.

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Parnetti L, Paciotti S, Eusebi P, Dardis A, Zampieri S, Chiasserini D, Tasegian A, Tambasco N, Bembi B, Calabresi P, Beccari T.

Mov Disord. 2017 Oct;32(10):1423-1431. doi: 10.1002/mds.27136. Epub 2017 Aug 26.

PMID:
28843015
7.

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R.

J Clin Neurosci. 2016 Jun;28:185-6. doi: 10.1016/j.jocn.2015.12.004. Epub 2016 Feb 5.

8.

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene.

Doppler K, Brockmann K, Sedghi A, Wurster I, Volkmann J, Oertel WH, Sommer C.

Front Neurol. 2018 Dec 17;9:1094. doi: 10.3389/fneur.2018.01094. eCollection 2018.

9.

Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models.

Sardi SP, Singh P, Cheng SH, Shihabuddin LS, Schlossmacher MG.

Neurodegener Dis. 2012;10(1-4):195-202. doi: 10.1159/000335038. Epub 2012 Feb 9. Review.

PMID:
22327140
10.

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.

Murphy KE, Gysbers AM, Abbott SK, Tayebi N, Kim WS, Sidransky E, Cooper A, Garner B, Halliday GM.

Brain. 2014 Mar;137(Pt 3):834-48. doi: 10.1093/brain/awt367. Epub 2014 Jan 28.

11.

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.

Keatinge M, Bui H, Menke A, Chen YC, Sokol AM, Bai Q, Ellett F, Da Costa M, Burke D, Gegg M, Trollope L, Payne T, McTighe A, Mortiboys H, de Jager S, Nuthall H, Kuo MS, Fleming A, Schapira AH, Renshaw SA, Highley JR, Chacinska A, Panula P, Burton EA, O'Neill MJ, Bandmann O.

Hum Mol Genet. 2015 Dec 1;24(23):6640-52. doi: 10.1093/hmg/ddv369. Epub 2015 Sep 16.

12.

Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.

Soria FN, Engeln M, Martinez-Vicente M, Glangetas C, López-González MJ, Dovero S, Dehay B, Normand E, Vila M, Favereaux A, Georges F, Lo Bianco C, Bezard E, Fernagut PO.

Hum Mol Genet. 2017 Jul 15;26(14):2603-2615. doi: 10.1093/hmg/ddx120.

PMID:
28520872
13.

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.

Franco R, Sánchez-Arias JA, Navarro G, Lanciego JL.

Front Neuroanat. 2018 Jun 28;12:52. doi: 10.3389/fnana.2018.00052. eCollection 2018.

14.

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells.

Ambrosi G, Ghezzi C, Zangaglia R, Levandis G, Pacchetti C, Blandini F.

Neurobiol Dis. 2015 Oct;82:235-242. doi: 10.1016/j.nbd.2015.06.008. Epub 2015 Jun 19.

PMID:
26094596
15.

Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.

Rockenstein E, Clarke J, Viel C, Panarello N, Treleaven CM, Kim C, Spencer B, Adame A, Park H, Dodge JC, Cheng SH, Shihabuddin LS, Masliah E, Sardi SP.

Hum Mol Genet. 2016 Jul 1;25(13):2645-2660. Epub 2016 Apr 28.

16.

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease.

Kinghorn KJ, Asghari AM, Castillo-Quan JI.

Neural Regen Res. 2017 Mar;12(3):380-384. doi: 10.4103/1673-5374.202934. Review.

17.

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Ryan E, Seehra G, Sharma P, Sidransky E.

Curr Opin Neurol. 2019 Aug;32(4):589-596. doi: 10.1097/WCO.0000000000000715.

PMID:
31188151
18.

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.

Yang SY, Beavan M, Chau KY, Taanman JW, Schapira AHV.

Stem Cell Reports. 2017 Mar 14;8(3):728-742. doi: 10.1016/j.stemcr.2017.01.011. Epub 2017 Feb 16.

19.

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Migdalska-Richards A, Wegrzynowicz M, Rusconi R, Deangeli G, Di Monte DA, Spillantini MG, Schapira AHV.

Brain. 2017 Oct 1;140(10):2706-2721. doi: 10.1093/brain/awx221.

20.

A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin.

Kinghorn KJ, Grönke S, Castillo-Quan JI, Woodling NS, Li L, Sirka E, Gegg M, Mills K, Hardy J, Bjedov I, Partridge L.

J Neurosci. 2016 Nov 16;36(46):11654-11670.

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