[This corrects the article DOI: 10.1371/journal.pone.0165729.].
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189384 | PLOS |
Protein Sci
January 2025
Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy.
This study focuses on spastic paraplegia type 50 (SPG50), an adapter protein complex 4 deficiency syndrome caused by mutations in the adapter protein complex 4 subunit mu-1 (AP4M1) gene, and on the downstream alterations of the AP4M1 protein. We applied a battery of heterogeneous computational resources, encompassing two in-house tools described here for the first time, to (a) assess the druggability potential of AP4M1, (b) characterize SPG50-associated mutations and their 3D scenario, (c) identify mutation-tailored drug candidates for SPG50, and (d) elucidate their mechanisms of action by means of structural considerations on homology models of the adapter protein complex 4 core. Altogether, the collected results indicate R367Q as the mutation with the most promising potential of being corrected by small-molecule drugs, and the flavonoid rutin as best candidate for this purpose.
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December 2024
Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
HSPB1 [heat shock protein family B (small) member 1] and HSPB8 are essential molecular chaperones for neuronal proteostasis, as they prevent protein aggregation. Mutant HSPB1 and HSPB8 primarily harm peripheral neurons, resulting in axonal Charcot-Marie-Tooth neuropathies (CMT2). Macroautophagy/autophagy is a shared mechanism by which HSPB1 and HSPB8 mutations cause neuronal dysfunction.
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November 2024
Department of Information Technology, Sri Lanka Institute of Advanced Technological Education, Galle, Sri Lanka.
Tropical diseases can often be caused by viruses, bacteria, parasites, and fungi. They can be spread over vectors. Analysis of multiple omics data types can be utilized in providing comprehensive insights into biological system functions and disease progression.
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