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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

Related topics

Related topics

6 relations
4p16.3Homo sapiensHuntington DiseaseLigand Binding

Broader (1)

HTT gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Dopamine D1 receptor–mediated aggregation of N-terminal fragments of mutant huntingtin and cell death in a neuroblastoma cell line
2000
2000
Molecular diagnosis of Huntington disease in Brazilian patients.
Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by… 
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
Neurotrophic Factors NGF and FGF-2 Alter Levels of Huntingtin (IT15) in Striatal Neuronal Cell Cultures
A mutation of the human IT15 gene is responsible for Huntington's disease (HD) and the causative factor in the major neuronal… 
1999
1999
A novel PCR‐based approach for the detection of the Huntington disease associated trinucleotide repeat expansion
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG… 
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… 
1995
1995
Transcription of the Huntington disease gene during the quinolinic acid excitotoxic cascade
&NA; Although Huntington disease (HD) is characterized by the selective neurodegeneration of the basal ganglia and cerebral… 
Highly Cited
1994
Highly Cited
1994
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
150 subjects affected with HD and 45 at high risk for the disease were typed for the CAG trinucleotide repeat at the 5' end of… 
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… 
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