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Literature DB >> 1883197

Lysosomal storage diseases.

E F Neufeld¹.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Enzymes

Year: 1991 PMID： 1883197 DOI： 10.1146/annurev.bi.60.070191.001353

Source DB: PubMed Journal: Annu Rev Biochem ISSN： 0066-4154 Impact factor: 23.643

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Cited

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138 in total

1. Stop codons affect 5' splice site selection by surveillance of splicing.

Authors: Binghui Li; Chaim Wachtel; Elana Miriami; Galit Yahalom; Gilgi Friedlander; Gil Sharon; Ruth Sperling; Joseph Sperling
Journal: Proc Natl Acad Sci U S A Date: 2002-04-16 Impact factor: 11.205

Review 2. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.

Authors: F M Platt; M Jeyakumar; U Andersson; D A Priestman; R A Dwek; T D Butters; T M Cox; R H Lachmann; C Hollak; J M Aerts; S Van Weely; M Hrebícek; C Moyses; I Gow; D Elstein; A Zimran
Journal: J Inherit Metab Dis Date: 2001-04 Impact factor: 4.982

3. Stop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD.

Authors: Chaim Wachtel; Binghui Li; Joseph Sperling; Ruth Sperling
Journal: RNA Date: 2004-09-23 Impact factor: 4.942

4. Annexin A2 binds to endosomes following organelle destabilization by particulate wear debris.

Authors: Brian Scharf; Cristina C Clement; Xiao-Xuan Wu; Kateryna Morozova; Diego Zanolini; Antonia Follenzi; Jorge N Larocca; Kalle Levon; Fayyaz S Sutterwala; Jacob Rand; Neil Cobelli; Ed Purdue; Katherine A Hajjar; Laura Santambrogio
Journal: Nat Commun Date: 2012-03-27 Impact factor: 14.919

Lysosomal storage diseases.

1. Stop codons affect 5' splice site selection by surveillance of splicing.

Review 2. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.

3. Stop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD.

4. Annexin A2 binds to endosomes following organelle destabilization by particulate wear debris.

5. Pharmacologic manipulation of lysosomal enzyme transport across the blood-brain barrier.

6. Strategies for delivery of therapeutics into the central nervous system for treatment of lysosomal storage disorders.

Review 7. Gene therapy for the neurological manifestations in lysosomal storage disorders.

Review 8. New aspects of the pathogenesis of cystinosis.

Review 9. Signals on proteins, intracellular targeting and inborn errors of organellar metabolism.

10. Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses.