HUGO ID Detailed Result 2482


HUGO ID 2482
Symbol CSTB
Name cystatin B (stefin B)
#Occurrence 14
#Paper 1

 


PMID Match String Actual String Score Flanking text Edited by Edit
15210305STFBSTFB4.6was found to have a high homology with Stefin B STFB also called cystatin B (CSTB)], CSTB which is a member 
15210305CSTBCSTB4.6homology with Stefin B STFB also called cystatin B (CSTB)], CSTB which is a member of the superfamily of non-caspase cysteine 
15210305EPM1EPM14.6of progressive myoclonus epilepsy of the Unverricht_amp_#x2013 Lundborg type (EPM1) EPM1 are caused by mutations (mostly mostly an expansion of a 
15210305EPM1EPM14.6EPM1 is an autosomal recessive disorder characterized by seizures myoclonus and 
15210305EPM1EPM14.6cystatin B mRNA down-regulation in various tissues from patients with EPM1 49 
15210305EPM1EPM14.6spinal cord involvement such as spinal or segmental myoclonus in EPM1 and paralysis with muscle wasting in ALS 
15210305cystatin bcystatin b1.0another up regulated gene candidate was found to have a high homology with stefin b [stfb also called cystatin b cstb ] which is a member of the superfamily of non caspase cysteine protease inhibitors known to have an anti apoptotic function [ 45 and 85 ].  
15210305stefin bstefin b1.0another up regulated gene candidate was found to have a high homology with stefin b [stfb also called cystatin b cstb ] which is a member of the superfamily of non caspase cysteine protease inhibitors known to have an anti apoptotic function [ 45 and 85 ].  
15210305cystatin bcystatin b1.0the majority of cases of progressive myoclonus epilepsy of the unverricht_amp_#x2013;lundborg type epm1 are caused by mutations mostly an expansion of a 12 bp polymorphic tandem repeat of the cystatin b gene [ 86 and 87 ].  
15210305cystatin bcystatin b1.0these mutations are responsible for the cystatin b mrna down regulation in various tissues from patients with epm1 [ 49 ].  
15210305cystatin bcystatin b1.0mice lacking cystatin b develop symptoms seen in the human disease with loss of cerebellar granule cells and other cellular changes characteristic of apoptosis [ 87 ].  
15210305cystatin bcystatin b1.0up regulation of cystatin b and 14 3 3 proteins in als spinal cord may also be seen as an anti apoptotic mechanism promoting cell survival.  
15210305cystatin bcystatin b1.0cystatin b was also found to be close to the sod1 gene on chromosome 21.  
15210305cystatin bcystatin b1.0an tissue show the activation of unique neuroprotective mechanisms which are not identified in the studies of animal models exemplified by the up regulation of transcripts like 14 3 3 protein fmo and cystatin b. further insight in these changes which may be particularly relevant for the human form of the disease may open the way to a full understanding of the intrinsic molecular dysfunction leading to motor