Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
نویسندگان
چکیده
منابع مشابه
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatment strategies do exist. Traditionally, efforts have been mainly targeting the functional loss of the enzyme, by injection of a recombinant formula...
متن کاملCoutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065
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Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting the functional loss of the enzyme by inj...
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10.1586/14750708.2.4.569 © 2 Miglustat (N-butyldeoxynojirimycin) is a potent inhibitor of ceramide-specific glucosyltransferase, the enzyme that catalyses the first committed step in glycosphingolipid biosynthesis. Inhibition of glycosphingolipid synthesis is a potential strategy for the treatment of a number of lysosomal storage disorders that result in the accumulation of glycosphingolipids w...
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In the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications. As orphan drug regulations, however, encouraged development of drugs for these disorders by granting marketing exclusivity for 10 years and other ...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2016
ISSN: 1422-0067
DOI: 10.3390/ijms17071065