Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

Item
http://www.wikidata.org/entity/Q24681038
Innate Immune Response in Brain, NF-Kappa B Signaling and CystatinsCharacterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTBStefin B interacts with histones and cathepsin L in the nucleusA PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.A role for stefin B (cystatin B) in inflammation and endotoxemia.Molecular background of progressive myoclonus epilepsy.Genetics of inherited human epilepsiesThe Repeat Expansion Diseases: The dark side of DNA repair.Pore formation by human stefin B in its native and oligomeric states and the consequent amyloid induced toxicity.Cystatins in immune system.A cSNP map and database for human chromosome 21.Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.Increased expression of stefin B in the nucleus of T98G astrocytoma cells delays caspase activation.
P2860

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

Item
http://www.wikidata.org/entity/Q24681038
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@ast
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@en
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@nl
type
label
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@ast
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@en
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@nl
prefLabel
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@ast
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@en
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932
P1433
P1476
Identification of mutations in ...... sive myoclonus epilepsy (EPM1)
@en
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932