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From rare to common and back again: 60 years of lysosomal dysfunction
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Orientador(es)
Resumo(s)
Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but as an organelle playing a central role in cell metabolism. Besides its well known association with lysosomal storage disorders (mostly rare and life-threatening diseases), recent data have shown that the lysosome is also a player in some of the most common conditions of our time; and, perhaps even most important, it is not only a target for orphan drugs (rare disease therapeutic approaches) but also a putative target to treat patients suffering from common complex diseases worldwide. Here we review the striking associations linking rare lysosomal storage disorders such as the well-known Gaucher disease, or even the recently discovered, extremely rare Neuronal Ceroid Lipofuscinosis-11 and some of the most frequent, multifaceted and complex disorders of modern society such as cancer, Parkinson's disease and frontotemporal lobar degeneration.
Descrição
Palavras-chave
Cancer Frontotemporal Lobar Degeneration (FTLD) Gaucher Disease (GD) Lysosomal Storage Disorders (LSDs) Neuronal Ceroid Lipofuscinosis (NCL) Doenças Genéticas
Contexto Educativo
Citação
Mol Genet Metab. 2016 Feb;117(2):53-65. doi: 10.1016/j.ymgme.2015.08.008. Epub 2015 Aug 18
Editora
Elsevier