Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma.

Authors: Mizuguchi, M  Kato, M  Yamanouchi, H  Ikeda, K  Takashima, S 
Citation: Mizuguchi M, etal., Ann Neurol. 1996 Dec;40(6):941-4.
Pubmed: (View Article at PubMed) PMID:9007104
DOI: Full-text: DOI:10.1002/ana.410400621

We studied the expression of tuberin, the TSC2 gene product, in cerebra with or without tuberous sclerosis. Tuberin was abundant in the gray matter of normal cerebra, but was undetectable in the subependymal astrocytomas from 3 patients with tuberous sclerosis. In 1 patient, cortical tubers and normally appearing cortical tissue also showed a marked loss of tuberin. These results indicate the critical role of tuberin in the neuropathology of tuberous sclerosis.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 11568672
Created: 2016-12-09
Species: All species
Last Modified: 2016-12-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.