Property Summary

NCBI Gene PubMed Count 80
Grant Count 50
R01 Count 24
Funding $7,964,070.65
PubMed Score 604.71
PubTator Score 364.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Gene RIF (43)

PMID Text
26843564 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
25770194 Even though the majority of EPM1 patients have a uniform genetic mutation, the actual size of the longer CSTB expansion mutation allele is likely to have a modulating effect on the age at disease onset, myoclonus severity, and cortical neurophysiology.
25752200 A role for disease-causing mutations in cystatin B gene in patients with juvenile myoclonic epilepsy was not supported.
25633807 Data shows that CYTB and ANXA4 overexpression may be involved in carcinogenesis and histopathological differentiation of ovarian clear cell carcinoma and suggest they may serve as a potential diagnostic biomarkers.
25263734 glutamate dehydrogenase is a euchromatin-associated enzyme, and its H3 clipping activity is regulated by chromatin structure, histone modifications and an in vivo inhibitor.
25047918 The study shows detection of stefin B dimers in HEK293 cells and the importance of their residual activity.
24909779 The present study was performed on two more missense mutants of human stefin B, G50E and Q71P, and they similarly showed numerous aggregates upon overexpression.
24452274 The increased CSTB expression in ovarian tissue represents tumor progression and is dysregulated by the TGF-beta signaling pathway.
24234043 A reciprocal influence of CSTB and SOD1 at the gene expression level and for a direct interaction of the two proteins, is reported.
23883076 detected a homozygous expansion of dodecamer repeats in the CSTB gene in four patients with clinical diagnosis of ULD.
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AA Sequence

MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVF      1 - 70
QSLPHENKPLTLSNYQTNKAKHDELTYF                                               71 - 98
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Text Mined References (84)

PMID Year Title
26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25770194 2015 Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
25752200 2015 No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
25633807 2015 Cystatin B as a potential diagnostic biomarker in ovarian clear cell carcinoma.
25263734 2014 H3 clipping activity of glutamate dehydrogenase is regulated by stefin B and chromatin structure.
25047918 2014 Human stefin B role in cell's response to misfolded proteins and autophagy.
24909779 2014 Gain in toxic function of stefin B EPM1 mutants aggregates: correlation between cell death, aggregate number/size and oxidative stress.
24452274 2014 Cystatin B is a progression marker of human epithelial ovarian tumors mediated by the TGF-? signaling pathway.
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