Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Benjamin Liou"'
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 185-201 (2023)
Mutations in GBA1, encoding the lysosomal acid β-glucosidase (GCase), cause neuronopathic Gaucher disease (nGD) and promote Parkinson disease (PD). The mutations on GBA1 include deletion and missense mutations that are pathological and lead to GCase
Externí odkaz:
https://doaj.org/article/52aaf75278eb4cae9ea6f54af7a3ab3d
Autor:
Ying Sun, Benjamin Liou, Zhengtao Chu, Venette Fannin, Rachel Blackwood, Yanyan Peng, Gregory A. Grabowski, Harold W. Davis, Xiaoyang Qi
Publikováno v:
EBioMedicine, Vol 55, Iss , Pp - (2020)
Background: Enzyme replacement therapy (ERT) can positively affect the visceral manifestations of lysosomal storage diseases (LSDs). However, the exclusion of the intravenous ERT agents from the central nervous system (CNS) prevents direct therapeuti
Externí odkaz:
https://doaj.org/article/c3f9ab807f314117a86a23d2d81c4958
Autor:
Yanyan Peng, Benjamin Liou, Yi Lin, Venette Fannin, Wujuan Zhang, Ricardo A. Feldman, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun
Publikováno v:
Cells, Vol 10, Iss 9, p 2286 (2021)
Substrate reduction therapy (SRT) in clinic adequately manages the visceral manifestations in Gaucher disease (GD) but has no direct effect on brain disease. To understand the molecular basis of SRT in GD treatment, we evaluated the efficacy and unde
Externí odkaz:
https://doaj.org/article/2a17195a72704fc382691fa67a91cebb
Autor:
Mei Dai, Benjamin Liou, Brittany Swope, Xiaohong Wang, Wujuan Zhang, Venette Inskeep, Gregory A Grabowski, Ying Sun, Dao Pan
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162367 (2016)
To study the neuronal deficits in neuronopathic Gaucher Disease (nGD), the chronological behavioral profiles and the age of onset of brain abnormalities were characterized in a chronic nGD mouse model (9V/null). Progressive accumulation of glucosylce
Externí odkaz:
https://doaj.org/article/a118094d919a42d98d893a5747d3b841
Autor:
Ying Sun, Jane Florer, Christopher N Mayhew, Zhanfeng Jia, Zhiying Zhao, Kui Xu, Huimin Ran, Benjamin Liou, Wujuan Zhang, Kenneth D R Setchell, Jianguo Gu, Gregory A Grabowski
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0118771 (2015)
Gaucher disease (GD) is caused by insufficient activity of acid β-glucosidase (GCase) resulting from mutations in GBA1. To understand the pathogenesis of the neuronopathic GD, induced pluripotent stem cells (iPSCs) were generated from fibroblasts is
Externí odkaz:
https://doaj.org/article/ec477e45da954ce9a8daca535930ef37
Autor:
Sonya Barnes, You-Hai Xu, Wujuan Zhang, Benjamin Liou, Kenneth D R Setchell, Liming Bao, Gregory A Grabowski, Ying Sun
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e116023 (2014)
Gaucher disease is a lysosomal storage disease caused by defective activity of acid β-glucosidase (GCase), which leads to the accumulation of its major substrates, glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in many cells. To modulate
Externí odkaz:
https://doaj.org/article/a5023a320f5b4a29baac1320c8929196
Autor:
Ying Sun, Wujuan Zhang, You-Hai Xu, Brian Quinn, Nupur Dasgupta, Benjamin Liou, Kenneth D R Setchell, Gregory A Grabowski
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57560 (2013)
Gaucher disease results from GBA1 mutations that lead to defective acid β-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS. The mutation, tissue, an
Externí odkaz:
https://doaj.org/article/17503a5132614b3282b08cc38f30eecf
Autor:
Ying Sun, Huimin Ran, Benjamin Liou, Brian Quinn, Matt Zamzow, Wujuan Zhang, Jacek Bielawski, Kazuyuki Kitatani, Kenneth D R Setchell, Yusuf A Hannun, Gregory A Grabowski
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e19037 (2011)
The pharmacological chaperone, isofagomine (IFG), enhances acid β-glucosidase (GCase) function by altering folding, trafficking, and activity in wild-type and Gaucher disease fibroblasts. The in vivo effects of IFG on GCase activity, its substrate l
Externí odkaz:
https://doaj.org/article/07efa194c76b48e6828757b10303fbfd
Publikováno v:
PLoS ONE, Vol 4, Iss 10, p e7320 (2009)
Gaucher disease is a lysosomal storage disease caused by mutations in acid beta-glucosidase (GCase) leading to defective hydrolysis and accumulation of its substrates. Two L-type calcium channel (LTCC) blockers-verapamil and diltiazem-have been repor
Externí odkaz:
https://doaj.org/article/7cda69c23fb843328e199b586fe8076b
Autor:
Xiangli Zhao, Yi Lin, Benjamin Liou, Wenyu Fu, Jinlong Jian, Venette Fannin, Wujuan Zhang, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun, Chuan-ju Liu
Publikováno v:
Proceedings of the National Academy of Sciences. 120
Mutations in GBA1 , encoding glucocerebrosidase (GCase), cause Gaucher disease (GD) and are also genetic risks in developing Parkinson’s disease (PD). Currently, the approved therapies are only effective for directly treating visceral symptoms, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efa55f557360c093b1953e2feea1a72d
https://doi.org/10.1073/pnas.2210442120
https://doi.org/10.1073/pnas.2210442120