Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 40

1.

Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation.

Awad O, Panicker LM, Deranieh RM, Srikanth MP, Brown RA, Voit A, Peesay T, Park TS, Zambidis ET, Feldman RA.

Stem Cell Reports. 2017 Dec 12;9(6):1853-1867. doi: 10.1016/j.stemcr.2017.10.029. Epub 2017 Nov 30.

2.

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Hagege E, Grey RJ, Lopez G, Roshan Lal T, Sidransky E, Tayebi N.

Am J Med Genet A. 2017 Dec;173(12):3211-3215. doi: 10.1002/ajmg.a.38487. Epub 2017 Nov 1.

PMID:
29091352
3.

The Role of Astrocyte Dysfunction in Parkinson's Disease Pathogenesis.

Booth HDE, Hirst WD, Wade-Martins R.

Trends Neurosci. 2017 Jun;40(6):358-370. doi: 10.1016/j.tins.2017.04.001. Epub 2017 May 17. Review.

4.

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.

Barkhuizen M, Anderson DG, van der Westhuizen FH, Grobler AF.

Mol Genet Genomic Med. 2017 Feb 8;5(2):147-156. doi: 10.1002/mgg3.267. eCollection 2017 Mar.

5.

Efferocytosis is impaired in Gaucher macrophages.

Aflaki E, Borger DK, Grey RJ, Kirby M, Anderson S, Lopez G, Sidransky E.

Haematologica. 2017 Apr;102(4):656-665. doi: 10.3324/haematol.2016.155093. Epub 2016 Dec 23.

6.

Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E.

Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr.

7.

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.

8.

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

Aflaki E, Moaven N, Borger DK, Lopez G, Westbroek W, Chae JJ, Marugan J, Patnaik S, Maniwang E, Gonzalez AN, Sidransky E.

Aging Cell. 2016 Feb;15(1):77-88. doi: 10.1111/acel.12409. Epub 2015 Oct 21.

9.

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.

Sun Y, Florer J, Mayhew CN, Jia Z, Zhao Z, Xu K, Ran H, Liou B, Zhang W, Setchell KD, Gu J, Grabowski GA.

PLoS One. 2015 Mar 30;10(3):e0118771. doi: 10.1371/journal.pone.0118771. eCollection 2015.

10.

The clinical management of Type 2 Gaucher disease.

Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E.

Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14. Review.

11.

A novel common variant in DCST2 is associated with length in early life and height in adulthood.

van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, Joro R, Kerkhof M, Warrington NM, Pitkänen N, Ntalla I, Horikoshi M, Veijola R, Freathy RM, Teo YY, Barton SJ, Evans DM, Kemp JP, St Pourcain B, Ring SM, Davey Smith G, Bergström A, Kull I, Hakonarson H, Mentch FD, Bisgaard H, Chawes B, Stokholm J, Waage J, Eriksen P, Sevelsted A, Melbye M; Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium, van Duijn CM, Medina-Gomez C, Hofman A, de Jongste JC, Taal HR, Uitterlinden AG; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Armstrong LL, Eriksson J, Palotie A, Bustamante M, Estivill X, Gonzalez JR, Llop S, Kiess W, Mahajan A, Flexeder C, Tiesler CM, Murray CS, Simpson A, Magnus P, Sengpiel V, Hartikainen AL, Keinanen-Kiukaanniemi S, Lewin A, Da Silva Couto Alves A, Blakemore AI, Buxton JL, Kaakinen M, Rodriguez A, Sebert S, Vaarasmaki M, Lakka T, Lindi V, Gehring U, Postma DS, Ang W, Newnham JP, Lyytikäinen LP, Pahkala K, Raitakari OT, Panoutsopoulou K, Zeggini E, Boomsma DI, Groen-Blokhuis M, Ilonen J, Franke L, Hirschhorn JN, Pers TH, Liang L, Huang J, Hocher B, Knip M, Saw SM, Holloway JW, Melén E, Grant SF, Feenstra B, Lowe WL, Widén E, Sergeyev E, Grallert H, Custovic A, Jacobsson B, Jarvelin MR, Atalay M, Koppelman GH, Pennell CE, Niinikoski H, Dedoussis GV, Mccarthy MI, Frayling TM, Sunyer J, Timpson NJ, Rivadeneira F, Bønnelykke K, Jaddoe VW; Early Growth Genetics (EGG) Consortium.

Hum Mol Genet. 2015 Feb 15;24(4):1155-68. doi: 10.1093/hmg/ddu510. Epub 2014 Oct 3.

12.

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.

Aflaki E, Stubblefield BK, Maniwang E, Lopez G, Moaven N, Goldin E, Marugan J, Patnaik S, Dutra A, Southall N, Zheng W, Tayebi N, Sidransky E.

Sci Transl Med. 2014 Jun 11;6(240):240ra73. doi: 10.1126/scitranslmed.3008659.

13.

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.

14.

Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.

Yang C, Swallows CL, Zhang C, Lu J, Xiao H, Brady RO, Zhuang Z.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):249-54. doi: 10.1073/pnas.1321341111. Epub 2013 Dec 18.

15.

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

Chahine LM, Qiang J, Ashbridge E, Minger J, Yearout D, Horn S, Colcher A, Hurtig HI, Lee VM, Van Deerlin VM, Leverenz JB, Siderowf AD, Trojanowski JQ, Zabetian CP, Chen-Plotkin A.

JAMA Neurol. 2013 Jul;70(7):852-8. doi: 10.1001/jamaneurol.2013.1274.

16.

Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.

Maniwang E, Tayebi N, Sidransky E.

Mol Genet Metab. 2013 Apr;108(4):269-71. doi: 10.1016/j.ymgme.2013.01.012. Epub 2013 Jan 29.

17.

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N.

Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.

18.

Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase.

Patnaik S, Zheng W, Choi JH, Motabar O, Southall N, Westbroek W, Lea WA, Velayati A, Goldin E, Sidransky E, Leister W, Marugan JJ.

J Med Chem. 2012 Jun 28;55(12):5734-48. doi: 10.1021/jm300063b. Epub 2012 Jun 8.

19.

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E.

Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16.

20.

Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Baris HN, Raas-Rothschild A, Garty BZ, Tor R, Klontz S, Tayebi N, Sidransky E, Cohen IJ.

Blood Cells Mol Dis. 2011 Dec 15;47(4):262-3. doi: 10.1016/j.bcmd.2011.08.002. Epub 2011 Sep 1. No abstract available.

Supplemental Content

Support Center