CSTB: from cell to population and back

Amaral, Olga; Duarte, Ana Joana

http://hdl.handle.net/10400.18/4343

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
Apresent-spdm 2016 - branco3i-1.jpg		802.01 KB	JPEG	Download
SPDM 2016 resumo Simposio.pdf		56.95 KB	Adobe PDF	Download

Send Feedback

Authors

Amaral, Olga

Duarte, Ana Joana

Abstract(s)

Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally, exploring the cellular phenotype in order to assess the involvement of lysosomes.