Characterization of a rare Unverricht–Lundborg disease mutation

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.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In thi...

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Detalles Bibliográficos
Autores principales: Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750610/
https://www.ncbi.nlm.nih.gov/pubmed/26937413
http://dx.doi.org/10.1016/j.ymgmr.2015.07.005
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author Duarte, Ana Joana
Ribeiro, Diogo
Chaves, João
Amaral, Olga
author_facet Duarte, Ana Joana
Ribeiro, Diogo
Chaves, João
Amaral, Olga
author_sort Duarte, Ana Joana
collection PubMed
description 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.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation 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.
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spelling pubmed-47506102016-03-02 Characterization of a rare Unverricht–Lundborg disease mutation Duarte, Ana Joana Ribeiro, Diogo Chaves, João Amaral, Olga Mol Genet Metab Rep Short Communication 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.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation 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. Elsevier 2015-08-05 /pmc/articles/PMC4750610/ /pubmed/26937413 http://dx.doi.org/10.1016/j.ymgmr.2015.07.005 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Duarte, Ana Joana
Ribeiro, Diogo
Chaves, João
Amaral, Olga
Characterization of a rare Unverricht–Lundborg disease mutation
title Characterization of a rare Unverricht–Lundborg disease mutation
title_full Characterization of a rare Unverricht–Lundborg disease mutation
title_fullStr Characterization of a rare Unverricht–Lundborg disease mutation
title_full_unstemmed Characterization of a rare Unverricht–Lundborg disease mutation
title_short Characterization of a rare Unverricht–Lundborg disease mutation
title_sort characterization of a rare unverricht–lundborg disease mutation
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750610/
https://www.ncbi.nlm.nih.gov/pubmed/26937413
http://dx.doi.org/10.1016/j.ymgmr.2015.07.005
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