Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. Mutated HTT is the cause...
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Huntington's disease (redirect from Huntingtin disease)
the huntingtin gene (HTT). However, up to 10% of cases are due to a new mutation. The huntingtin gene provides the genetic information for huntingtin protein...
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Huntingtin-interacting protein 1 also known as HIP-1 is a protein that in humans is encoded by the HIP1 gene. Hip-1 is a protein that interacts with the...
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Huntingtin Interacting Protein (HIP) may refer to: HIP1 (Huntingtin-interacting protein 1) HIP1R (Huntingtin-interacting protein 1 related protein) HIP2...
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trinucleotide sequence CAG in exon 1 of the huntingtin gene (HTT). This gene is responsible for encoding the protein huntingtin which plays a role in preventing...
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results from a mutation in the huntingtin gene that causes an excess of CAG repeats. The gene then forms a mutated huntingtin protein with polyglutamine repeats...
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Scaffold protein (section Huntingtin protein)
and ATP-competitive inhibitors. Huntingtin protein co-localizes with ATM repair protein at sites of DNA damage. Huntingtin is a scaffolding protein in the...
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affecting the central nervous system HD (gene) or huntingtin, the IT15 gene, which codes for the huntingtin protein H.D. or Hilda Doolittle (1886–1961), American...
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polyglutamine tract expansion in the huntingtin gene, resulting in the mutant huntingtin. Aggregates of mutant huntingtin form as inclusion bodies in neurons...
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results from an expansion of the trinucleotide repeat (CAG)n within the Huntingtin gene on human chromosome 4. Telomeres (the ends of linear chromosomes)...
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Huntingtin-associated protein 1 (HAP1) is a protein which in humans is encoded by the HAP1 gene. This protein was found to bind to the mutant huntingtin...
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treatment applied to metals and alloys Huntingtin Interacting Protein Hip-1, Huntingtin Interacting Protein 1 HIP2, Huntingtin Interacting Protein 2 HIP1R Head...
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neurodegenerative disease caused by mutations in a single gene HTT, that encodes for huntingtin protein. Symptoms include cognitive impairment and this usually declines...
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and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results...
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apoptosis. There are reports that indicate amyloid polymers (such as those of huntingtin, associated with Huntington's disease) can induce the polymerization of...
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SGK1 (section Huntingtin)
foster neuroexcitotoxicity". Counteracting huntingtin toxicity, SGK1 has been found to phosphorylate huntingtin. "Genomic upregulation of SGK1 coincides...
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individuals with a certain excess of repeats (27–39) of the CAG codon in the Huntingtin gene may not have the disease but are more likely to have a child with...
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Kalirin (redirect from Huntingtin-associated protein interacting protein)
Kalirin, also known as Huntingtin-associated protein-interacting protein (HAPIP), protein duo (DUO), or serine/threonine-protein kinase with Dbl- and pleckstrin...
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gene (Huntingtin) was found. Many techniques developed in finding the Huntingtin gene were used to advance the Human Genome Project. The Huntingtin gene...
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eventually death. At the molecular level, HD results from a mutation in the huntingtin protein (Htt). More specifically, there is an abnormal repetition of a...
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towards the cell body along the axon. This axonal transport is disrupted if huntingtin or its interacting partner HAP1, which colocalize with autophagosomes...
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repeats in exons or introns can cause disease. For example, the human gene huntingtin (Htt) typically contains 6–29 tandem repeats of the nucleotides CAG (encoding...
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disorder 2 protein HELQ: encoding protein Helicase, POLQ-like HTT (Huntingtin): huntingtin protein (Huntington's disease) IGJ: linker protein for immunoglobulin...
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a large region at the N terminus of huntingtin. This interaction is not influenced by the length of the huntingtin polyglutamine tract. This protein has...
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(GLP-1) receptor agonist, has been tested in mice with the mutated human huntingtin protein showing neurodegenerative changes, motor dysfunction, poor energy...
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regarding the cytoskeleton or membrane transport, while interactions with huntingtin could interfere with its function regarding apoptosis, nuclear tRNA transport...
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Ronald (2024). "Pharmacokinetics and pharmacodynamics of PTC518, an oral huntingtin lowering splicing modifier: A first-in-human study". British Journal of...
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ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1, HIPK2, HMGB1, HSPA9, Huntingtin, ING1, ING4, ING5, IκBα, KPNB1, LMO3, Mdm2, MDM4, MED1, MAPK9, MNAT1,...
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(AD). Pridopidine exhibits a neuroprotective effect against mutant Huntingtin (mHTT)-induced cell death in mouse primary HD neurons and human HD iPSCs...
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WJ, Olejniczak M (2018). "Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases". Frontiers in Neuroscience. 12: 75. doi:10.3389/fnins...
176 KB (20,510 words) - 21:34, 22 May 2025