Paul, DM and Chandrasekhar, G and Srinivasan, E and Chandra Sekar, P and Lavinya, BU and Rajasekaran, R (2023) LSDDB: Lysosomal Storage Disorder Database for Lysosomal Proteins and Their Single Amino-Acid Substitutions. In: Journal of Computational Biophysics and Chemistry .
Full text not available from this repository.Abstract
Lysosomal storage diseases (LSDs) consist of about 60 different monogenic disorders. Most of them occur due to protein misfolding. Only a few of those have been treated with molecular chaperones; the remaining either have limited treatment options or only management therapies. About 1860 single amino-acid substitutions (SAS) have been identified under LSDs. Merely, a handful of mutations have been studied experimentally. Availability of computational tools has made researchers turn toward genetic disorders to focus light on unexplored disorders and their mutations. Since all the LSDs are rare genetic disorders, not much research is carried out in this area. However, a mutational effect on protein function could be predicted, through bioinformatics tools. On that note, out of 1860 SAS, 58 predictions were neutral and 778 were predicted to be disease associated by all programs included in this study. The result of the prediction analysis of all mutations in each of the LSDs is curated into a database. This would make researchers know the deleterious nature of a mutation causing LSD. The database is available at http://lsddb.vit.ac.in:3000/.
| Item Type: | Journal Article |
|---|---|
| Publication: | Journal of Computational Biophysics and Chemistry |
| Publisher: | World Scientific |
| Additional Information: | The copyright for this article belongs to the World Scientific. |
| Keywords: | Lysosomal storage disorder; database; SAS; rare disorder; pathological mutations. |
| Department/Centre: | Division of Biological Sciences > Molecular Biophysics Unit |
| Date Deposited: | 24 Jul 2023 05:21 |
| Last Modified: | 24 Jul 2023 05:21 |
| URI: | https://eprints.iisc.ac.in/id/eprint/82535 |
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