Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.2.1.22 (cystathionine beta-synthase)
 965 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The recent knowledges about the functions of huntingtin and the pathomechanism of Huntington disease are reviewed. Several binding proteins such as HAP1, ubiquitin-conjugating enzyme, HIP1, glyceraldehyde-3-phosphate-dehydrogenase(GAPDH), and cystathionine beta-synthase are identified. One of the functions of huntingtin suggested by those binding proteins is organella transport. In addition huntington binds with WW domain proteins and SH3 domain. The most exciting discovery of Huntington disease pathomechanism is identification of nuclear inclusions in transgenic mouse model of Huntington disease. The discussion about the significance of nuclear inclusion for the cell death was reviewed.
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PMID:[The function of Huntington disease gene product (huntingtin) and the pathomechanism of Huntington disease]. 1022 88