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Items: 6

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.

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.

3.

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.

4.

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.

5.

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.

Goker-Alpan O, Masdeu JC, Kohn PD, Ianni A, Lopez G, Groden C, Chapman MC, Cropp B, Eisenberg DP, Maniwang ED, Davis J, Wiggs E, Sidransky E, Berman KF.

Brain. 2012 Aug;135(Pt 8):2440-8. doi: 10.1093/brain/aws174.

6.

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.

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