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Huntington disease

Huntington disease

 
Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3 coding for huntingtin (MIM.143100).

Loci modifying the age of onset (#12900792#)

-  4p16
-  6p21-23
-  6q24-26

References

-  Li SH, Li XJ. Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet. 2004 Mar;20(3):146-54. PMID: #15036808#

-  Li JY, Plomann M, Brundin P. Huntington's disease: a synaptopathy? Trends Mol Med. 2003 Oct;9(10):414-20. PMID: #14557053#

-  Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet. 2003 May;19(5):233-8. PMID: #12711212#

-  Rubinsztein DC. Lessons from animal models of Huntington's disease. Trends Genet. 2002 Apr;18(4):202-9. PMID: #11932021#

-  Nasir J, Goldberg YP, Hayden MR. Huntington disease: new insights into the relationship between CAG expansion and disease. Hum Mol Genet. 1996;5 Spec No:1431-5. PMID: #8875248#

-  Tobin AJ, Signer ER. Huntington's disease: the challenge for cell biologists. Trends Cell Biol. 2000 Dec;10(12):531-6. PMID: #11121745#

-  MIM.143100

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