Publication
Characterization of a rare Unverricht-Lundborg disease mutation
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Chaves, João | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2016-02-18T15:54:45Z | |
| dc.date.issued | 2015-07 | |
| dc.description | AJD received a small SPDM/Genzyme grant award | pt_PT |
| dc.description.abstract | Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66GNA; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of thismutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease. | pt_PT |
| dc.description.sponsorship | This work was partially supported by Sociedade Portuguesa de Doenças Metabólicas (SPDM) under INSA's project 2013DGH859. AJD received a small grant award from Genzyme/SPDM. The funding source(s) had no involvement in the design, collection of samples or analysis of data. | pt_PT |
| dc.identifier.citation | Mol Genet Metab Rep. 2015; 4: 68-71. doi:10.1016/j.ymgmr.2015.07.005 | pt_PT |
| dc.identifier.doi | 10.1016/j.ymgmr.2015.07.005 | pt_PT |
| dc.identifier.issn | 2214-4269 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3415 | |
| 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/S2214426915300239 | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Rare Diseases | pt_PT |
| dc.subject | Lysosomal Disorders | pt_PT |
| dc.subject | Unverricht-Lundborg Disease | pt_PT |
| dc.subject | Epilepsy | pt_PT |
| dc.subject | Molecular and Cellular Biology | pt_PT |
| dc.title | Characterization of a rare Unverricht-Lundborg disease mutation | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 71 | pt_PT |
| oaire.citation.startPage | 68 | pt_PT |
| oaire.citation.title | Molecular Genetics and Metabolism Reports | pt_PT |
| oaire.citation.volume | 4 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |