AI & ChatGPT searches , social queriess for HUNTINGTIN
Search references for HUNTINGTIN. Phrases containing HUNTINGTIN
See searches and references containing HUNTINGTIN!
Search references for HUNTINGTIN. Phrases containing HUNTINGTIN
See searches and references containing HUNTINGTIN!HUNTINGTIN
Gene and protein involved in Huntington's disease
Huntingtin (Htt) is a human protein encoded by the HTT gene, also known as IT15 ("interesting transcript 15"). Pathogenic expansions in HTT (disease-causing
Huntingtin
Inherited neurodegenerative disorder
an affected parent, who carries a mutation in the huntingtin gene (HTT), which encodes the huntingtin protein. However, up to 10% of cases are due to a
Huntington's_disease
Small molecule drug
compound functions as a huntingtin (HTT) gene modulator and splicing factor modifier, designed to selectively reduce huntingtin mRNA and protein levels
Votoplam
Protein-coding gene in the species Homo sapiens
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
Huntingtin-interacting protein 1
Huntingtin-interacting_protein_1
Index of articles associated with the same name
Huntingtin Interacting Protein (HIP) may refer to: HIP1 (Huntingtin-interacting protein 1) HIP1R (Huntingtin-interacting protein 1 related protein) HIP2
Huntingtin Interacting Protein
Huntingtin_Interacting_Protein
Protein-coding gene in the species Homo sapiens
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
UBE2K
Protein-coding gene in the species Homo sapiens
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
Huntingtin-associated protein 1
Huntingtin-associated_protein_1
Type of protein, regulators of signalling pathways
and ATP-competitive inhibitors. Huntingtin protein co-localizes with ATM repair protein at sites of DNA damage. Huntingtin is a scaffolding protein in the
Scaffold_protein
Process that prevents the expression of a gene
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
Gene_silencing
Topics referred to by the same term
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
HD
Central nervous system disease
polyglutamine tract expansion in the huntingtin gene, resulting in the mutant huntingtin. Aggregates of mutant huntingtin form as inclusion bodies in neurons
Neurodegenerative_disease
Complete set of nucleic acid sequences for humans
results from an expansion of the trinucleotide repeat (CAG)n within the Huntingtin gene on human chromosome 4. Telomeres (the ends of linear chromosomes)
Human_genome
Insoluble protein aggregate with a fibrillar morphology
apoptosis. There are reports that indicate amyloid polymers (such as those of huntingtin, associated with Huntington's disease) can induce the polymerization of
Amyloid
Protein-coding gene in the species Homo sapiens
Kalirin, also known as Huntingtin-associated protein-interacting protein (HAPIP), protein duo (DUO), or serine/threonine-protein kinase with Dbl- and pleckstrin
Kalirin
Protein-coding gene in the species Homo sapiens
foster neuroexcitotoxicity". Counteracting huntingtin toxicity, SGK1 has been found to phosphorylate huntingtin. "Genomic upregulation of SGK1 coincides
SGK1
Topics referred to by the same term
treatment applied to metals and alloys Huntingtin Interacting Protein Hip-1, Huntingtin Interacting Protein 1 HIP2, Huntingtin Interacting Protein 2, now UBE2K
Hip_(disambiguation)
All genetic material of an organism
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
Genome
Cognitive decline
neurodegenerative disease caused by mutations in a single gene HTT, that encodes for huntingtin protein. Symptoms include cognitive impairment that usually declines further
Dementia
American neuroscientist
the mutant huntingtin protein in mice using insertion of a bacterial artificial chromosome expressing the full-length human mutant huntingtin gene. The
Michelle Gray (neuroscientist)
Michelle_Gray_(neuroscientist)
British neurologist
published the first successful detection and quantification of mutant huntingtin protein (the known cause of Huntington's) in human cerebrospinal fluid
Edward_Wild_(neuroscientist)
Genetic condition
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
Premutation
Protein-coding gene in the species Homo sapiens
expansion of a polyglutamine tract in the HD protein huntingtin. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs. GRCh38:
SETD2
Patterns of nucleic acids that occur in multiple copies throughout the genome
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
Repeated_sequence_(DNA)
Type of DNA sequence
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
Silencer_(genetics)
Human chromosome
disorder 2 protein HELQ: encoding protein Helicase, POLQ-like HTT (Huntingtin): huntingtin protein (Huntington's disease) IGJ: linker protein for immunoglobulin
Chromosome_4
American neurologist and scientist
P., and Krainc, D. (2011) Sirt1 mediates neuroprotection from mutant huntingtin by activation of TORC1 and CREB transcriptional pathway. Nature Medicine
Dimitri_Krainc
Mammalian protein found in humans
ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1, HIPK2, HMGB1, HSPA9, Huntingtin, ING1, ING4, ING5, IκBα, KPNB1, LMO3, Mdm2, MDM4, MED1, MAPK9, MNAT1,
P53
Pharmaceutical company
Ronald (2024). "Pharmacokinetics and pharmacodynamics of PTC518, an oral huntingtin lowering splicing modifier: A first-in-human study". British Journal of
PTC_Therapeutics
Cell biology structure
towards the cell body along the axon. This axonal transport is disrupted if huntingtin or its interacting partner HAP1, which colocalize with autophagosomes
Autophagosome
British neurologist and neuroscientist
Clinical Investigator for the first clinical trial of a 'gene silencing' or huntingtin-lowering antisense oligonucleotide (ASO) drug in Huntington's disease
Sarah_Tabrizi
InterPro Domain
II-dependent transcription repression. Huntingtin interacting protein-1 (HIP-1) is a protein that interacts with huntingtin (Htt), another protein that when
Death_effector_domain
Gene editing method
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
CRISPR_gene_editing
Protein tandem repeat
an acronym for four proteins in which this repeat structure is found: Huntingtin, elongation factor 3 (EF3), protein phosphatase 2A (PP2A), and the yeast
HEAT_repeat
Protein-coding gene in the species Homo sapiens
forms a complex with CSPα, a G protein and an N-type calcium channel. Huntingtin may be able displace both syntaxin 1A and CSPα from N-type channels. CSP
DNAJC5
Distributed computing project simulating protein folding
"The predicted structure of the headpiece of the Huntingtin protein and its implications on Huntingtin aggregation". Journal of Molecular Biology. 388
Folding@home
DNA located in mitochondria
reduce the overall quality of mtDNA. In Huntington's disease, mutant huntingtin protein causes mitochondrial dysfunction involving inhibition of mitochondrial
Mitochondrial_DNA
Network of filamentous proteins that forms the internal framework of cells
pathology of the cytoskeleton. Excess glutamine in the Huntington protein (huntingtin) involved with linking vesicles onto the cytoskeleton is also proposed
Cytoskeleton
Protein-coding gene in the species Homo sapiens
encoded by the ZDHHC17 gene. ZDHHC17 has been shown to interact with Huntingtin. GRCh38: Ensembl release 89: ENSG00000186908 – Ensembl, May 2017 GRCm38:
ZDHHC17
Protein-coding gene in the species Homo sapiens
"Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently". The Journal of Biological Chemistry
DNAJB6
Chemical compound
(AD). Pridopidine exhibits a neuroprotective effect against mutant Huntingtin (mHTT)-induced cell death in mouse primary HD neurons and human HD-induced
Pridopidine
Enzyme of the glycolysis metabolic pathway
regarding the cytoskeleton or membrane transport, while interactions with huntingtin could interfere with its function regarding apoptosis, nuclear tRNA transport
Glyceraldehyde 3-phosphate dehydrogenase
Glyceraldehyde_3-phosphate_dehydrogenase
German-American biologist
of injuries stemming from a fall. Intrabody (intracellular antibody) Huntingtin and Huntington's disease Sickle cell anaemia and Hemoglobin Ingram, V
Vernon_Ingram
ability to carry aggregated proteins outside of neurons, including human huntingtin protein. Melentijevic, I; Toth, ML; Arnold, ML; Guasp, RJ; Harinath, G;
Exopher
Class of proteins
Hrp65-2 Hectochlorin HS1 (actin binding protein) Helicase II Hsp27 HIP1 (Huntingtin Interacting protein 1) Hsp70 Histactophilin Hsp90 Histidine rich protein
Actin-binding_protein
Class of enzyme complexes
The A subunit, a founding member of the HEAT repeat protein family (huntingtin, EF3, PP2A, TOR1), is the scaffold required for the formation of the heterotrimeric
Protein_phosphatase_2
N-terminal acetylation, protein modification
together is called the NatA complex. The NatA complex also binds to HYPK (Huntingtin-interacting protein K) which can stabilize the NatA complex. NatA targets
N-terminal_acetylation
Protein-coding gene in humans
EE (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–865. doi:10
GIT1
Protein-coding gene in the species Homo sapiens
et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
FEZ1
Cytoplasm found within the axon of a neuron
; Björkblom, B.; Coffey, E.; Bagnato, C.; Han, D. (2009). "Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating
Axoplasm
Protein-coding gene in the species Homo sapiens
et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
ECH1
American scientific researcher (born 1977)
biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation". Human Molecular Genetics. 16 (18): 2187–2198. doi:10.1093/hmg/ddm170
Jeff_Carroll
German neurologist and neuroscientist (born 1960)
intrathecal application of antisense oligonucleotides ASO to silence huntingtin gene expression evaluating the safety, tolerability, and efficacy of intrathecally
Bernhard_Landwehrmeyer
Protein found in humans
PJ (December 2003). "Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein". Science. 302 (5651). New York, N.Y.: 1769–1772
Alpha-synuclein
Medication
T, Hamby A, Massa SM (August 2005). "Clioquinol down-regulates mutant huntingtin expression in vitro and mitigates pathology in a Huntington's disease
Clioquinol
Protein-coding gene in the species Homo sapiens
et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
HLTF
Structure of the striatum in the basal ganglia of the brain
(September 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell. 15 (6): 853–65
Caudate_nucleus
German physician and neuroscientist
NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin". Nature Medicine. 15 (12): 1407–1413. doi:10.1038/nm.2056. ISSN 1546-170X
Hilmar_Bading
Protein-coding gene in humans
et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
LUC7L
Protein-coding gene in the species Homo sapiens
EE (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
EEF1G
US-based non-profit organization
gene (Huntingtin) was found. Many techniques developed in finding the Huntingtin gene were used to advance the Human Genome Project. The Huntingtin gene
Hereditary_Disease_Foundation
Huntingtin-interacting protein 1-related protein is a protein that in humans is encoded by the HIP1R gene. GRCh38: Ensembl release 89: ENSG00000130787
HIP1R
Destruction or degeneration of brain cells
short arm of chromosome 4p16.3 causes aggregation and accumulation of the Huntingtin protein; brain atrophy follows. Symptoms usually present between the ages
Brain_injury
Protein-coding gene in the species Homo sapiens
family". Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24):
RAB8A
Protein-coding gene in the species Homo sapiens
EE (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
PABPC4
Chemical compound
Ca2+ channels. Huntington's disease occurs when the cytosolic protein Huntingtin (Htt) has an additional 35 glutamine residues added to its amino terminal
Inositol_trisphosphate
Protein-coding gene in the species Homo sapiens
encoded by the PRPF40A gene. PRPF40A has been shown to interact with Huntingtin. GRCh38: Ensembl release 89: ENSG00000196504 – Ensembl, May 2017 GRCm38:
PRPF40A
American molecular biologist
; Zamore, P. D.; Aronin, N. (2007). "Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral
Phillip_D._Zamore
Protein-coding gene in humans
40-kDa huntingtin-associated protein also known as (Coagulation factor VIII associated 1) is a protein that in humans is encoded by the F8A1, F8A2, and
F8A1
Protein-coding gene in the species Homo sapiens
(2001). "The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease
Transcription elongation regulator 1
Transcription_elongation_regulator_1
Topics referred to by the same term
China Human Terrain Team of the United States Army The gene that encodes Huntingtin Hybrid turbocharger Hyper-threading Hyperloop Transportation Technologies
HTT
Protein-coding gene in the species Homo sapiens
et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10
PPHLN1
Chemical compound
October 2020, Novartis announced that branaplam reduces the amount of huntingtin protein, which is one of the major therapeutic approaches in Huntington's
Branaplam
Process where substrates are converted into more complex products in living organisms
synthesis. These errors or mutations lead to the expression of a mutant huntingtin protein, which contains repetitive glutamine residues that are encoded
Biosynthesis
Protein-coding gene in humans
cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human". J. Neurosci. 18 (19): 7674–86
CCDC113
Pharmaceutical company
targets aggregation of tau and is believed to act on synuclein, TDP-43 and huntingtin protein. Its primary development in Alzheimer's disease is focused in
TauRx_Therapeutics
Protein-coding gene in the species Homo sapiens
(September 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell. 15 (6): 853–65
ZHX1
Neurological disease researcher
Bertolotti, Anne (2006-11-24). "Critical role of the proline-rich region in Huntingtin for aggregation and cytotoxicity in yeast". The Journal of Biological
Anne_Bertolotti
American biologist
Worley, Paul; Holzbaur, Erika L.F.; Ross, Christopher A. (1997-12-01). "Huntingtin-associated Protein 1 (HAP1) Interacts with the p150Glued Bubunit of Dynactin"
Erika_Holzbaur
Molecular biophysicist, structural biologist
oligomerization events and associated structures involving the protein encoded by huntingtin exon-1, which may provide a potential avenue for therapeutic intervention
G._Marius_Clore
Mammalian protein found in humans
demonstrate that treatment with rapamycin facilitates the clearance of huntingtin aggregates. Perhaps the same treatment may be useful in clearing Aβ deposits
MTOR
Group of physical problems resulting from basal ganglia dysfunction
disease stems from a defect that consists of an expanded CAG repeat in the huntingtin gene (HTT) located on the short arm p of chromosome 4. Evidence shows
Basal_ganglia_disease
British writer (1969–2025)
disease. In 2019, she became patient 1 on the Roche Gen-Peak trial of a huntingtin protein-lowering drug tominersen. In 2021, she published a memoir, Patient
Charlotte_Raven
Protein found in humans
YF (February 2002). "Expression of full-length polyglutamine-expanded Huntingtin disrupts growth factor receptor signaling in rat pheochromocytoma (PC12)
Tropomyosin_receptor_kinase_A
Mammalian protein found in Homo sapiens
structure, which has a curved, tubular shape present for example in the Huntingtin protein, which also contains HEAT repeats. FATC is the C-terminal domain
ATM_serine/threonine_kinase
Protein-coding gene in the species Homo sapiens
Nicholson DW (Feb 2002). "Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi". Nat. Cell Biol.
IFT57
Chemical compound
precursor proteins (APP) and amyloid beta, tau, alpha-synuclein (αSYN), huntingtin, and TDP-43. Buntanetap performs in a noncholinergic manner and works
Buntanetap
German neurologist and neuroscientist (born 1965)
of an antisense oligonucleotide drug (IONIS-HTTRx) aimed at lowering huntingtin protein levels, conducted in 2015–2017 under the international leadership
Carsten_Saft
Protein-coding gene in the species Homo sapiens
transcriptional repressor proteins with the Huntington's disease gene product, huntingtin". Human Molecular Genetics. 8 (9): 1647–55. doi:10.1093/hmg/8.9.1647.
SIN3A
Chemical compound
human postmortem tissue of Huntington's disease. Expression of mutant Huntingtin impairs AMPA-mediated synaptic transmission by disrupting subunit transport
Willardiine
Structure in molecular biology
in the Huntington disease gene / allele-specific silencing of mutant huntingtin". Molecular Therapy. 19 (12): 2178–85. doi:10.1038/mt.2011.201. PMC 3242664
G-quadruplex
Protein-coding gene in the species Homo sapiens
PMC 2119948. PMID 8120099. Engelender S, Sharp AH, Colomer V, et al. (1998). "Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin"
PCM1
Abnormal multiples of one or more chromosomes
polymorphisms, or RFLPs. RFLP also aids in the identification of the Huntingtin (HTT) gene which is predictive of an adult-onset autosomal disorder called
Polysomy
American professor of biology
Luo, Liqun; Kopito, Ron R. (2015). "Prion-like transmission of neuronal huntingtin aggregates to phagocytic glia in the Drosophila brain". Nature Communications
Ron_Kopito
non-coding RNA. It is an antisense RNA which regulates the expression of the huntingtin gene. Long noncoding RNA Chung DW, Rudnicki DD, Yu L, Margolis RL (2011)
HTT-AS1
Protein-coding gene in the species Homo sapiens
MJ, et al. (2003). "Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein". Science. 302 (5651): 1769–72. Bibcode:2003Sci
DNAJA2
Protein-coding gene in the species Homo sapiens
shock response in cells expressing full-length polyglutamine-expanded huntingtin". PLOS ONE. 7 (5) e37929. Bibcode:2012PLoSO...737929C. doi:10.1371/journal
Heat_shock_factor_protein_1
Protein-coding gene in the species Homo sapiens
Marmorstein R (10 May 2018). "Structure of Human NatA and Its Regulation by the Huntingtin Interacting Protein HYPK". Structure. 26 (7). London, England: 925–935
N-alpha-acetyltransferase_10
Protein-coding gene in the species Homo sapiens
Gowan K, Lee JE (August 2003). "Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2". Proceedings of the National
NEUROD1
Protein-coding gene in the species Homo sapiens
Shy1. COX15 is positively regulated by intracellular heme levels via Huntingtin-associated protein 1. GRCh38: Ensembl release 89: ENSG00000014919 – Ensembl
COX15
Field of study
of glutamine codon repeats (CAG) within the Huntingtin gene (Htt). The Htt gene encodes for the huntingtin protein which plays a role in normal development
Epigenetics of neurodegenerative diseases
Epigenetics_of_neurodegenerative_diseases
HUNTINGTIN
HUNTINGTIN
HUNTINGTIN
HUNTINGTIN
Boy/Male
American, British, Celtic, English
From the Narrow River; River Man; Keel Friend
Girl/Female
Muslim/Islamic
Breeze
Girl/Female
Muslim
Fairy
Female
Italian
Italian form of Latin Electra, ELETTRA means "bright, shining."
Boy/Male
Tamil
One of names of the Sun God
Girl/Female
Tamil
Boy/Male
Hindu, Indian
Minister
Surname or Lastname
English
English : habitational name from a place in Lincolnshire (now Boothby Graffoe and Boothby Pagnell), recorded in Domesday Book as Bodebi, from Old Danish bÅth ‘hut’, ‘shed’ + bý ‘farm’, ‘settlement’.
Male
Hebrew
Variant spelling of Hebrew Saraph, SARAF means "burning one" or "serpent."
Boy/Male
Indian, Sanskrit
King
HUNTINGTIN
HUNTINGTIN
HUNTINGTIN
HUNTINGTIN
HUNTINGTIN