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HTT wt Allele

Known as: Huntingtin (Huntington disease) Gene, HD, Huntingtin wt Allele 
Human HTT wild-type allele is located in the vicinity of 4p16.3 and is approximately 199 kb in length. This allele, which encodes huntingtin protein… 
National Institutes of Health

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6 relations
4p16.3Homo sapiensHuntington DiseaseLigand Binding

Broader (1)

HTT gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A case report of juvenile Huntington disease
Huntington disease (HD) is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement… 
2013
2013
Choroba Huntingtona — w 20. rocznicę odkrycia genu IT15; patogeneza, diagnostyka i leczenie
Choroba Huntingtona (HD, Huntington’s disease ) jest procesem zwyrodnieniowym uwarunkowanym genetycznie i wystepuje rzadziej niz… 
2008
2008
Dopamine D1 receptor–mediated aggregation of N-terminal fragments of mutant huntingtin and cell death in a neuroblastoma cell line
2000
2000
Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.
PCR amplification of the CAG repeat in exon 1 of the IT15 gene is routinely undertaken to confirm a clinical diagnosis of… 
2000
2000
[Huntington disease in Burkina Faso].
Four cases of Huntington's disease in two families seen in Burkino Faso, a country in western Africa, are described. All four… 
1997
1997
Maternal transmission in sporadic Huntington's disease.
Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15… 
1996
1996
Dentatorubral‐pallidoluysian atrophy. Clinical features of a five‐generation danish family
We describe the first Danish family with dentatorubral‐pallidoluysian atrophy (DRPLA), containing 16 clinically affected… 
1996
1996
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.
The diagnosis of Huntington's disease (HD) may be uncertain in patients without a positive family history, particularly when… 
1994
1994
A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in…
The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown to… 
1993
1993
Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.
The molecular defect causing Huntington's disease (HD) has been found as an expansion of CAG triplets in the 5' coding region of… 
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