Publication
Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiency
| dc.contributor.author | Gaspar, Paulo | |
| dc.contributor.author | Kallemeijn, Wouter | |
| dc.contributor.author | Strijland, Anneke | |
| dc.contributor.author | Van Eijk, Marco | |
| dc.contributor.author | Van Roomen, Cindy | |
| dc.contributor.author | Ottenhoff, Roloef | |
| dc.contributor.author | Mirzaian, Mina | |
| dc.contributor.author | Ferraz, Maria | |
| dc.contributor.author | Donker-Koopman, Wilma | |
| dc.contributor.author | Macario, Maria do Carmo | |
| dc.contributor.author | Saftig, Paul | |
| dc.contributor.author | Overkleeft, Herman | |
| dc.contributor.author | Sá Miranda, Clara | |
| dc.contributor.author | Aerts, Hans | |
| dc.date.accessioned | 2018-04-04T14:59:53Z | |
| dc.date.available | 2018-04-04T14:59:53Z | |
| dc.date.issued | 2017-03 | |
| dc.description.abstract | Sphingolipidoses comprise the most prevalent group of lysosomal storage disorders. The most frequent is Gaucher disease (GD), where it occurs the storage of the glycosphingolipid glucosylceramide (GlcCer) due to a deficiency in the enzyme glucocerebrosidase (GCase). GD is a multi-systemic disorder affecting most organs, resulting in cytopenia, hepatosplenomegaly and skeletal abnormalities. Only recently, lysosomal integral membrane protein, type 2 (LIMP-2) has been identified as the receptor involved in the intracellular sorting and trafficking of the enzyme GCase to lysosomes. Deficiency of LIMP-2 causes Action Myoclonic-Renal Failure (AMRF), which clinically differs from GD. AMRF patients present renal dysfunction and failure, myoclonic epilepsy and ataxia with progressive neurological impairment . | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5527 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Doenças Lisossomais de Sobrecarga | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Proteinas de Membrana | pt_PT |
| dc.subject | LIMP-2 | pt_PT |
| dc.subject | AMRF | pt_PT |
| dc.title | Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiency | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Évora, Portugal | pt_PT |
| oaire.citation.title | 13th International Symposium of SPDM (Sociedade Portuguesa de Doenças Metabólicas), 16-17 March 2017 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |