A 405-kb Cosmid Contig and HindIII Restriction Map of the Progressive Myoclonus Epilepsy Type 1 (EPM1) Candidate Region in 21q22.3

Genomics ◽  
1995 ◽  
Vol 29 (1) ◽  
pp. 288-290 ◽  
Author(s):  
Ronald G. Lafrenière ◽  
Pieter J. de Jong ◽  
Guy A. Rouleau
Keyword(s):  
Candidate Region ◽  
Restriction Map ◽  
Progressive Myoclonus Epilepsy ◽  
Cosmid Contig ◽  
Myoclonus Epilepsy

Restriction Map of a YAC and Cosmid Contig Encompassing the Oculopharyngeal Muscular Dystrophy Candidate Region on Chromosome 14q11.2–q13

Genomics ◽  
1998 ◽  
Vol 52 (2) ◽  
pp. 201-204 ◽  
Author(s):  
Ya-Gang Xie ◽  
Daniel Rochefort ◽  
Bernard Brais ◽  
Heidi Howard ◽  
Fei-Yu Han ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Candidate Region ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Restriction Map ◽  
Cosmid Contig

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1997 ◽  
Vol 15 (3) ◽  
pp. 298-302 ◽  
Author(s):  
Ronald G. Lafreniére ◽  
Daniel L. Rochefort ◽  
Nathalie Chrétien ◽  
Johanna M. Rommens ◽  
Jeffrey I. Cochius ◽  
...  
Keyword(s):  
Common Mutation ◽  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
Flanking Region

scholarly journals Cognitive functioning in progressive myoclonus epilepsy type 1 (Unverricht-Lundborg Disease, EPM1)

2021 ◽  
Vol 122 ◽  
pp. 108157
Author(s):  
Marja Äikiä ◽  
Jelena Hyppönen ◽  
Esa Mervaala ◽  
Reetta Kälviäinen
Keyword(s):  
Cognitive Functioning ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress

Cells ◽  
2019 ◽  
Vol 8 (1) ◽  
pp. 70 ◽  
Author(s):  
Eva Žerovnik
Keyword(s):  
Oxidative Stress ◽  
Protease Inhibitor ◽  
Protein Aggregates ◽  
Misfolded Proteins ◽  
Progressive Myoclonus Epilepsy ◽  
The Family ◽  
Myoclonus Epilepsy ◽  
And Oxidative Stress

Human stefin B is a protease inhibitor from the family of cystatins. It was reported that it forms oligomers in cells. We have shown that it has a role in cell’s response to misfolded proteins. We also have shown that its oligomers bind amyloid-beta (Aβ). Here, we discuss ways, how stefin B could reduce build-up of protein aggregates by other proteins and consequently reduces ROS and, how this might be connected to autophagy. When overexpressed, stefin B forms protein aggregates itself and these protein aggregates induce autophagy. Similarly, cystatin C was shown to bind Aβ and to induce autophagy. It is also suggested how more knowledge about the role of stefin B in a cell’s response to misfolded proteins could be used to modulate progressive myoclonus epilepsy of type 1 EPM1 disease.

Sign in / Sign up

Export Citation Format

Share Document