Publication
From rare to common and back again: 60 years of lysosomal dysfunction
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2016-03-01T16:43:37Z | |
| dc.date.available | 2019-01-01T01:30:10Z | |
| dc.date.issued | 2015-08-18 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.sponsorship | Coutinho MF is grantee from the FCT (SFRH/BPD/101965/2014) | pt_PT |
| dc.identifier.citation | Mol Genet Metab. 2016 Feb;117(2):53-65. doi: 10.1016/j.ymgme.2015.08.008. Epub 2015 Aug 18 | pt_PT |
| dc.identifier.doi | 10.1016/j.ymgme.2015.08.008 | pt_PT |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3555 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S1096719215300433 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt_PT |
| dc.subject | Cancer | pt_PT |
| dc.subject | Frontotemporal Lobar Degeneration (FTLD) | pt_PT |
| dc.subject | Gaucher Disease (GD) | pt_PT |
| dc.subject | Lysosomal Storage Disorders (LSDs) | pt_PT |
| dc.subject | Neuronal Ceroid Lipofuscinosis (NCL) | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | From rare to common and back again: 60 years of lysosomal dysfunction | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 65 | pt_PT |
| oaire.citation.startPage | 53 | pt_PT |
| oaire.citation.title | Molecular Genetics and Metabolism | pt_PT |
| oaire.citation.volume | 117(2) | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |
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