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- W2899003910 abstract "Rare diseases are classified as such when their prevalence is 1:2000 or lower, but even if each of them is so infrequent, altogether more than 300 million people in the world suffer one of the ∼7000 diseases considered as rare. Over 1200 of these disorders are known to affect the brain or other parts of our nervous system, and their symptoms can affect cognition, motor function and/or social interaction of the patients; we refer collectively to them as rare neurological disorders or RNDs. We have focused this review on RNDs known to have compromised protein homeostasis pathways. Proteostasis can be regulated and/or altered by a chain of cellular mechanisms, from protein synthesis and folding, to aggregation and degradation. Overall, we provide a list comprised of above 215 genes responsible for causing more than 170 distinct RNDs, deepening on some representative diseases, including as well a clinical view of how those diseases are diagnosed and dealt with. Additionally, we review existing methodologies for diagnosis and treatment, discussing the potential of specific deubiquitinating enzyme inhibition as a future therapeutic avenue for RNDs." @default.
- W2899003910 created "2018-11-09" @default.
- W2899003910 creator A5006502512 @default.
- W2899003910 creator A5046986650 @default.
- W2899003910 creator A5066883011 @default.
- W2899003910 creator A5068389219 @default.
- W2899003910 creator A5072269465 @default.
- W2899003910 creator A5078334239 @default.
- W2899003910 date "2019-09-01" @default.
- W2899003910 modified "2023-10-18" @default.
- W2899003910 title "Impaired proteostasis in rare neurological diseases" @default.
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