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
A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene.
Miao P et al.
Acta Epileptologica, 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
Abstracts of the 6th Meeting of the Neapolitan Brain Group.
Unknown Author
Bmc Neuroscience, 2018
Pore-Forming Proteins as Mediators of Novel Epigenetic Mechanism of Epilepsy.
Surguchov A et al.
Frontiers in Neurology, 2017
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
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
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
Koskenkorva P et al.
Neuro-degenerative Diseases, 2011
Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB.
Brault V et al.
Plos One, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T et al.
Epilepsia, 2008
Clinical picture of EPM1-Unverricht-Lundborg disease.
Kälviäinen R 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
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
Alakurtti K et al.
European Journal of Human Genetics : Ejhg, 2005
Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease.
Ceru S et al.
Medical Hypotheses, 2005
Molecular background of progressive myoclonus epilepsy.
Lehesjoki AE
The Embo Journal, 2003
Progressive myoclonus epilepsy of Unverricht-Lundborg type.
Lehesjoki AE et al.
Epilepsia, 1999
The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L.
Estrada S et al.
Biochemistry, 1998
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
Lalioti MD et al.
American Journal of Human Genetics, 1997
Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.
Zaben B et al.
Journal of Investigative Medicine High Impact Case Reports, 0