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- W3097621622 endingPage "8196" @default.
- W3097621622 startingPage "8196" @default.
- W3097621622 abstract "In recent years, the study of single nucleotide polymorphisms (SNPs) has gained increasing importance in biomedical research, as they can either be at the molecular origin of a determined disorder or directly affect the efficiency of a given treatment. In this regard, sequence variations in genes involved in pro-survival cellular pathways are commonly associated with pathologies, as the alteration of these routes compromises cellular homeostasis. This is the case of autophagy, an evolutionarily conserved pathway that counteracts extracellular and intracellular stressors by mediating the turnover of cytosolic components through lysosomal degradation. Accordingly, autophagy dysregulation has been extensively described in a wide range of human pathologies, including cancer, neurodegeneration, or inflammatory alterations. Thus, it is not surprising that pathogenic gene variants in genes encoding crucial effectors of the autophagosome/lysosome axis are increasingly being identified. In this review, we present a comprehensive list of clinically relevant SNPs in autophagy-related genes, highlighting the scope and relevance of autophagy alterations in human disease." @default.
- W3097621622 created "2020-11-09" @default.
- W3097621622 creator A5054865930 @default.
- W3097621622 creator A5063788759 @default.
- W3097621622 creator A5087251720 @default.
- W3097621622 date "2020-11-02" @default.
- W3097621622 modified "2023-10-18" @default.
- W3097621622 title "Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes" @default.
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