Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
about
Cystatin F is a glycosylated human low molecular weight cysteine proteinase inhibitorMutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionStructure, alternative splicing and chromosomal localization of the cystatin-related epididymal spermatogenic geneLysosomal cysteine proteases: facts and opportunities.Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout miceRole of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinasesFriends and relations of the cystatin superfamily--new members and their evolutionLysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placeboAssignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysisIdentification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)Advances in genetics of juvenile myoclonic epilepsiesThe Role of Stefin B in Neuro-inflammationInnate Immune Response in Brain, NF-Kappa B Signaling and CystatinsEpileptic syndromes: From clinic to geneticA locus for febrile seizures (FEB3) maps to chromosome 2q23-24Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsyChromosome 21 abnormalities: a review and report of a case of Erondu-Cymet syndromeNovel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patientCharacterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTBNormal sexual development and fertility in testatin knockout mice.Human stefin B role in cell's response to misfolded proteins and autophagyCystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1Cystatin 10, a novel chondrocyte-specific protein, may promote the last steps of the chondrocyte differentiation pathwayDecreased metastatic spread in mice homozygous for a null allele of the cystatin C protease inhibitor geneTetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.Components of the antigen processing and presentation pathway revealed by gene expression microarray analysis following B cell antigen receptor (BCR) stimulationIdentification and characterisation of human apoptosis inducing proteins using cell-based transfection microarrays and expression analysis.Interaction between oligomers of stefin B and amyloid-beta in vitro and in cells.Emerging insights into the genesis of epilepsy.Alterations in the testis and epididymis associated with loss of function of the cystatin-related epididymal spermatogenic (CRES) protein.Stefin B interacts with histones and cathepsin L in the nucleusGenetics of childhood epilepsySpecial considerations in treating children with epilepsy.Generalized epileptic disorders: an update.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.
P2860
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P2860
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@ast
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@en
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@nl
type
label
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@ast
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@en
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@nl
prefLabel
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@ast
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@en
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@nl
P2093
P1433
P1476
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
@en
P2093
A E Lehesjoki
A de la Chapelle
J A Warrington
K Virtaneva
L A Pennacchio
P304
P356
10.1126/SCIENCE.271.5256.1731
P407
P577
1996-03-01T00:00:00Z