Literature DB >> 15019270

New directions in the treatment of Gaucher disease.

Anthony H Futerman1, Joel L Sussman, Mia Horowitz, Israel Silman, Ari Zimran.   

Abstract

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Year:  2004        PMID： 15019270     DOI： 10.1016/j.tips.2004.01.004

Source DB:  PubMed          Journal:  Trends Pharmacol Sci        ISSN： 0165-6147            Impact factor:   14.819


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  21 in total

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

Authors:  Samarjit Patnaik; Wei Zheng; Jae H Choi; Omid Motabar; Noel Southall; Wendy Westbroek; Wendy A Lea; Arash Velayati; Ehud Goldin; Ellen Sidransky; William Leister; Juan J Marugan
Journal:  J Med Chem       Date:  2012-06-08       Impact factor: 7.446

2.  Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.

Authors:  John Marshall; Kerry Anne McEachern; Wei-Lien Chuang; Elizabeth Hutto; Craig S Siegel; James A Shayman; Greg A Grabowski; Ronald K Scheule; Diane P Copeland; Seng H Cheng
Journal:  J Inherit Metab Dis       Date:  2010-03-25       Impact factor: 4.982

Review 3.  Glycosphingolipidoses: beyond the enzymatic defect.

Authors:  Annick Raas-Rothschild; Irene Pankova-Kholmyansky; Yaacov Kacher; Anthony H Futerman
Journal:  Glycoconj J       Date:  2004       Impact factor: 2.916

Review 4.  Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.

Authors:  Alessandro Prinetti; Simona Prioni; Elena Chiricozzi; Edward H Schuchman; Vanna Chigorno; Sandro Sonnino
Journal:  Neurochem Res       Date:  2011-01-05       Impact factor: 3.996

5.  Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  J Pediatr Genet       Date:  2020-01-02

6.  The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.

Authors:  Richie Khanna; Elfrida R Benjamin; Lee Pellegrino; Adriane Schilling; Brigitte A Rigat; Rebecca Soska; Hadis Nafar; Brian E Ranes; Jessie Feng; Yi Lun; Allan C Powe; David J Palling; Brandon A Wustman; Raphael Schiffmann; Don J Mahuran; David J Lockhart; Kenneth J Valenzano
Journal:  FEBS J       Date:  2010-02-10       Impact factor: 5.542

7.  Limitations of enzyme replacement therapy: current and future.

Authors:  J E Wraith
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

8.  Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

Authors:  Yildiz Yildiz; Heidrun Matern; Bonne Thompson; Jeremy C Allegood; Rebekkah L Warren; Denise M O Ramirez; Robert E Hammer; F Kent Hamra; Siegfried Matern; David W Russell
Journal:  J Clin Invest       Date:  2006-11       Impact factor: 14.808

Review 9.  Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders.

Authors:  Marco Piccinini; Federica Scandroglio; Simona Prioni; Barbara Buccinnà; Nicoletta Loberto; Massimo Aureli; Vanna Chigorno; Elisa Lupino; Giovanni DeMarco; Annarosa Lomartire; Maria Teresa Rinaudo; Sandro Sonnino; Alessandro Prinetti
Journal:  Mol Neurobiol       Date:  2010-02-03       Impact factor: 5.590

10.  Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland.

Authors:  Kaio Cesar Simiano Tavares; Ana Christina de Oliveira Dias; Cícera Regina Lazzarotto; Saul Gaudencio Neto; Igor de Sá Carneiro; Felipe Ledur Ongaratto; Antônio Frederico Michel Pinto; Luís Henrique de Aguiar; Carlos Enrique Mendez Calderón; Jorge Roberto Toledo; Fidel Ovidio Castro; Diogenes Santiago Santos; Jocelei Maria Chies; Marcelo Bertolini; Luciana Relly Bertolini
Journal:  Mol Biotechnol       Date:  2016-01       Impact factor: 2.695
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