Associated Papers
Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.
Abdel-Hamid MS et al.
Clinical Genetics, 2025
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Singh S et al.
Cells, 2024
Human stefin B: from its structure, folding, and aggregation to its function in health and disease.
Žerovnik E
Frontiers in Molecular Neuroscience, 2022
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
Berrechid AG et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
Co-chaperoning by amyloid-forming proteins: cystatins vs. crystallins.
Žerovnik E
European Biophysics Journal : Ebj, 2017
Characterization of a rare Unverricht-Lundborg disease mutation.
Duarte AJ et al.
Molecular Genetics and Metabolism Reports, 2015
Gain in toxic function of stefin B EPM1 mutants aggregates: correlation between cell death, aggregate number/size and oxidative stress.
Polajnar M et al.
Biochimica Et Biophysica Acta, 2014
Influence of partial unfolding and aggregation of human stefin B (cystatin B) EPM1 mutants G50E and Q71P on selective cleavages by cathepsins B and S.
Polajnar M et al.
Biological Chemistry, 2013
Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.
Polajnar M et al.
Frontiers in Molecular Neuroscience, 2012
Amyloid fibril formation by human stefins: Structure, mechanism & putative functions.
Zerovnik E et al.
Biochimie, 2010
Intracellular aggregation of human stefin B: confocal and electron microscopy study.
Ceru S et al.
Biology of the Cell, 2010
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T et al.
Epilepsia, 2008
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T et al.
European Journal of Human Genetics : Ejhg, 2007
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