Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Cell-based screening of active-site specific chaperone for the treatment of Fabry disease.

× No keyword cloud information.

16 in total

Review 1. Pathology and current treatment of neurodegenerative sphingolipidoses.

Authors: Matthias Eckhardt
Journal: Neuromolecular Med Date: 2010-08-22 Impact factor: 3.843

2. Small molecule structure correctors abolish detrimental effects of apolipoprotein E4 in cultured neurons.

Authors: Hung-Kai Chen; Zhaoping Liu; Anke Meyer-Franke; Jens Brodbeck; Rene D Miranda; James G McGuire; Michael A Pleiss; Zhong-Sheng Ji; Maureen E Balestra; David W Walker; Qin Xu; Dah-eun Jeong; Madhu S Budamagunta; John C Voss; Stephen B Freedman; Karl H Weisgraber; Yadong Huang; Robert W Mahley
Journal: J Biol Chem Date: 2011-12-12 Impact factor: 5.157

Review 3. Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathology.

Authors: Robert W Mahley; Yadong Huang
Journal: J Med Chem Date: 2012-10-05 Impact factor: 7.446

4. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.

Authors: Chikara Shiozuka; Atsumi Taguchi; Junichiro Matsuda; Yoko Noguchi; Takanori Kunieda; Kozue Uchio-Yamada; Hidekatsu Yoshioka; Ryoji Hamanaka; Shinji Yano; Shigeo Yokoyama; Kazuaki Mannen; Ashok B Kulkarni; Koichi Furukawa; Satoshi Ishii
Journal: J Biochem Date: 2010-10-19 Impact factor: 3.387

5. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Authors: A M Montaño; K Sukegawa; Z Kato; R Carrozzo; P Di Natale; E Christensen; K O Orii; T Orii; N Kondo; S Tomatsu
Journal: J Inherit Metab Dis Date: 2007-09-17 Impact factor: 4.982

6. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Authors: Richie Khanna; Rebecca Soska; Yi Lun; Jessie Feng; Michelle Frascella; Brandy Young; Nastry Brignol; Lee Pellegrino; Sheela A Sitaraman; Robert J Desnick; Elfrida R Benjamin; David J Lockhart; Kenneth J Valenzano
Journal: Mol Ther Date: 2009-09-22 Impact factor: 11.454

7. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Authors: Jung Young Park; Gu Hwan Kim; Sung Su Kim; Jung Min Ko; Jin Joo Lee; Han Wook Yoo
Journal: Exp Mol Med Date: 2009-01-31 Impact factor: 8.718

Review 8. Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.

Authors: Michael B Tropak; Don Mahuran
Journal: FEBS J Date: 2007-10 Impact factor: 5.542

9. A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Authors: Xiaoyang Wu; Evan Katz; Maria Cecilia Della Valle; Kirsten Mascioli; John J Flanagan; Jeffrey P Castelli; Raphael Schiffmann; Pol Boudes; David J Lockhart; Kenneth J Valenzano; Elfrida R Benjamin
Journal: Hum Mutat Date: 2011-07-12 Impact factor: 4.878

10. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Authors: Brandy Young-Gqamana; Nastry Brignol; Hui-Hwa Chang; Richie Khanna; Rebecca Soska; Maria Fuller; Sheela A Sitaraman; Dominique P Germain; Roberto Giugliani; Derralynn A Hughes; Atul Mehta; Kathy Nicholls; Pol Boudes; David J Lockhart; Kenneth J Valenzano; Elfrida R Benjamin
Journal: PLoS One Date: 2013-03-05 Impact factor: 3.240