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Items: 1 to 20 of 128

1.

Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E.

Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21.

2.

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.

3.

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
4.

Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease.

Zigdon H, Meshcheriakova A, Farfel-Becker T, Volpert G, Sabanay H, Futerman AH.

FEBS Lett. 2017 Mar;591(5):774-783. doi: 10.1002/1873-3468.12591. Epub 2017 Feb 28.

5.

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.

Dai M, Liou B, Swope B, Wang X, Zhang W, Inskeep V, Grabowski GA, Sun Y, Pan D.

PLoS One. 2016 Sep 6;11(9):e0162367. doi: 10.1371/journal.pone.0162367. eCollection 2016.

6.

Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.

Vardi A, Zigdon H, Meshcheriakova A, Klein AD, Yaacobi C, Eilam R, Kenwood BM, Rahim AA, Massaro G, Merrill AH Jr, Vitner EB, Futerman AH.

J Pathol. 2016 Aug;239(4):496-509. doi: 10.1002/path.4751. Epub 2016 Jul 5.

PMID:
27234572
7.

Induction of the type I interferon response in neurological forms of Gaucher disease.

Vitner EB, Farfel-Becker T, Ferreira NS, Leshkowitz D, Sharma P, Lang KS, Futerman AH.

J Neuroinflammation. 2016 May 12;13(1):104. doi: 10.1186/s12974-016-0570-2.

8.

A Next Generation Multiscale View of Inborn Errors of Metabolism.

Argmann CA, Houten SM, Zhu J, Schadt EE.

Cell Metab. 2016 Jan 12;23(1):13-26. doi: 10.1016/j.cmet.2015.11.012. Epub 2015 Dec 17. Review.

9.

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.

Zigdon H, Savidor A, Levin Y, Meshcheriakova A, Schiffmann R, Futerman AH.

PLoS One. 2015 Mar 16;10(3):e0120194. doi: 10.1371/journal.pone.0120194. eCollection 2015.

10.

Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy.

Pavlova EV, Archer J, Wang S, Dekker N, Aerts JM, Karlsson S, Cox TM.

J Pathol. 2015 Jan;235(1):113-24. doi: 10.1002/path.4452.

PMID:
25256118
11.

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

Xu YH, Xu K, Sun Y, Liou B, Quinn B, Li RH, Xue L, Zhang W, Setchell KD, Witte D, Grabowski GA.

Hum Mol Genet. 2014 Aug 1;23(15):3943-57. doi: 10.1093/hmg/ddu105. Epub 2014 Mar 5.

12.

Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1.

Akiyama H, Kobayashi S, Hirabayashi Y, Murakami-Murofushi K.

Biochem Biophys Res Commun. 2013 Nov 29;441(4):838-43. doi: 10.1016/j.bbrc.2013.10.145. Epub 2013 Nov 6.

13.

Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model.

Pandey MK, Jabre NA, Xu YH, Zhang W, Setchell KD, Grabowski GA.

Mol Genet Metab. 2014 Feb;111(2):163-71. doi: 10.1016/j.ymgme.2013.09.002. Epub 2013 Sep 10.

PMID:
24079945
14.

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.

Farfel-Becker T, Vitner EB, Kelly SL, Bame JR, Duan J, Shinder V, Merrill AH Jr, Dobrenis K, Futerman AH.

Hum Mol Genet. 2014 Feb 15;23(4):843-54. doi: 10.1093/hmg/ddt468. Epub 2013 Sep 24.

15.

B cell lymphoma and myeloma in murine Gaucher's disease.

Pavlova EV, Wang SZ, Archer J, Dekker N, Aerts JM, Karlsson S, Cox TM.

J Pathol. 2013 Sep;231(1):88-97. doi: 10.1002/path.4227. Erratum in: J Pathol. 2013 Dec;231(4):544-5.

PMID:
23775597
16.

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

Sanders A, Hemmelgarn H, Melrose HL, Hein L, Fuller M, Clarke LA.

Blood Cells Mol Dis. 2013 Aug;51(2):109-15. doi: 10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30.

PMID:
23642305
17.

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.

Sardi SP, Clarke J, Viel C, Chan M, Tamsett TJ, Treleaven CM, Bu J, Sweet L, Passini MA, Dodge JC, Yu WH, Sidman RL, Cheng SH, Shihabuddin LS.

Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3537-42. doi: 10.1073/pnas.1220464110. Epub 2013 Jan 7.

18.

Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.

Cabrera-Salazar MA, Deriso M, Bercury SD, Li L, Lydon JT, Weber W, Pande N, Cromwell MA, Copeland D, Leonard J, Cheng SH, Scheule RK.

PLoS One. 2012;7(8):e43310. doi: 10.1371/journal.pone.0043310. Epub 2012 Aug 17.

19.

Gaucher disease gene GBA functions in immune regulation.

Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK.

Proc Natl Acad Sci U S A. 2012 Jun 19;109(25):10018-23. doi: 10.1073/pnas.1200941109. Epub 2012 Jun 4.

20.

Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.

Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA.

Mol Genet Metab. 2012 Jul;106(3):310-22. doi: 10.1016/j.ymgme.2012.04.020. Epub 2012 Apr 30.

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