Publications by authors named "Silvia Mantovanelli"
The aim of this study is to shed light on the functional role of slc7a6os, a gene highly conserved in vertebrates. The Danio rerio slc7a6os gene encodes a protein of 326 amino acids with 46% identity to human SLC7A6OS and 14% to Saccharomyces cerevisiae polypeptide Iwr1. Yeast Iwr1 specifically binds RNA pol II, interacts with the basal transcription machinery and regulates the transcription of specific genes.
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- - Mucolipidosis type IV (MLIV) is a genetic disorder caused by mutations in the MCOLN1 gene, which is responsible for producing mucolipin-1 (TRPML1), a protein involved in cellular function and lysosome storage.
- - Research on zebrafish (Danio rerio) revealed five mucolipin-related genes, with a focus on mcoln1.1 and mcoln1.2, which exhibit maternal expression and specific localization in early embryonic and neural tissues related to MLIV.
- - The findings highlight the potential of zebrafish as a biological model for studying MLIV, given the significant redundancy and expression patterns of mucolipins in this