Background: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter. These mutations disrupt cystine efflux, leading to its accumulation in lysosomes and subsequent cellular damage. While more than 140 mutations have been identified, the functional and structural impacts of many nonsynonymous single nucleotide polymorphisms (nsSNPs) remain poorly understood.
View Article and Find Full Text PDFBacteria from the genus are responsible for spontaneous food fermentations. Some species, such as and , have the "Qualified Presumption of Safety" status recognized by the European Food Safety Authority. Several of their strains are used as probiotics in foods and sometimes are included in synbiotic combinations together with prebiotics.
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