Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
Show all species
Show all synonyms
Select your species
These investigations demonstrate a specific 'rate-limiting' role for huntingtin in formation of the telencephalon and the pre-placodal region, and differing levels of requirement for huntingtin function in specific nerve cell types.
the effects of Htt deficiency in early zebrafish development.
In vivo, huntingtin deficient zebrafish had a severe phenotype and reduced expression of LXR (show NR1H3 ELISA Kits) reg'd genes. An LXR (show NR1H3 ELISA Kits) agonist partially rescued the phenotype and expression of LXR (show NR1H3 ELISA Kits) target genes in huntingtin deficient zebrafish during early development.
Mutant HTT causes severe mislocalization and aggregation of nucleoporins and defective nucleocytoplasmic transport.
Early-onset sleep defects in mutated HTT Drosophila models of Huntington's disease reflect alterations of PKA/CREB (show CREB ELISA Kits) signaling.
Htt aggregates cause non-cell-autonomous pathology, including loss of vulnerable neurons that can be prevented by inhibiting endocytosis in these neurons.
Glia regulate steady-state numbers of Htt aggregates expressed in neurons through a clearance mechanism that requires the glial scavenger receptor Draper and downstream phagocytic machinery.
findings support a role for HTT on dynamin 1 (show DNM1 ELISA Kits) function and ER homoeostasis. Proteolysis-induced alteration of this function may be relevant to disease.
Htt modulated histone H3K9 methylation levels at the heterochromatin-euchromatin boundary.
In Drosophila, Huntingtin genetically interacts with autophagy pathway components.
Decreased O-linked GlcNAcylation protects from cytotoxicity mediated by huntingtin exon1 protein fragment
Loss of huntingtin protein results in the disruption of Rab11 vesicle transport.
The specific disruption of Drosophila huntingtin in neuroblast precursors leads to spindle misorientation; Drosophila huntingtin restores spindle misorientation in mammalian cells.
results suggest that subject-to-subject variation contributes more to variability in N-terminal huntingtin fragments than post mortem delay
We report that endogenous huntingtin protein directly participates in oxidative DNA damage repair. Using novel chromobodies to detect endogenous human huntingtin in live cells, we show that localization of huntingtin to DNA damage sites is dependent on the kinase activity of ataxia telangiectasia mutated (ATM (show ATM ELISA Kits)) protein.
the long HTT 3'UTR (show UTS2R ELISA Kits) suppresses translation.
Soluble oligomers of PolyQ-expanded huntingtin target a multiplicity of key cellular factors.
Peripheral huntingtin silencing does not ameliorate central signs of disease in the B6.HttQ111/+ mouse model of Huntington's disease
The present data emphasize the relevance of expanded CAG RNA to Huntington's disease pathogenesis, indicate that inhibition of HTT expression is not required to reverse motor deficits, and further suggest a therapeutic potential for LNA-CTG in polyglutamine disorders.
Although the mutant huntingtin gene is expressed widely, neurons of the striatum and cortex are selectively affected in Huntington's disease (HD). Our results suggest that this selectivity is attributable to the reduced expression of Foxp1 (show FOXP1 ELISA Kits), a protein expressed selectively in striatal and cortical neurons that plays a neuroprotective role in these cells.
Huntingtin 513 fragment has unique physical interactions with the cellular environment, including, but not limited to, the protein degradation machinery.
The CAG repeat (show CELF3 ELISA Kits) expansion in the exon 1 of the protein huntingtin (HTTex1) that causes the disease leads to the formation of HTT fibrils in vitro and vivo. The fibrils of mutant HTTex1 are able to seed the aggregation of wild type HTTex1 into amyloid fibrils, which in turn can seed the fibril formation of mutant HTTex1.
Mutant Htt reduces expression of alphaB-crystallin (show CRYAB ELISA Kits) in astrocytes to decrease exosome secretion in Huntigton disease brains.
Since the R6/2 mice represent a 'truncated' huntingtin (Htt) mouse model of Huntington's disease (HD), we tested the efficacy of bezafibrate in a 'full-length' Htt mouse model, the BACHD mice. Bezafibrate treatment restored the impaired PPARg (show PPARG ELISA Kits), PPARd (show PPARD ELISA Kits), PGC (show PGC ELISA Kits)-1a signaling pathway, enhanced mitochondrial biogenesis and improved antioxidant defense in the striatum of BACHD mice
treatment of topotecan, a brain-penetrating topoisomerase 1 (show TOP1 ELISA Kits) inhibitor, to HD transgenic mouse considerably improved its motor behavioural abnormalities. Finally, we show that topotecan treatment to HD mouse not only inhibits the expression of transgenic mutant huntingtin, but also at the same time induces the expression of Ube3a (show ube3a ELISA Kits)
Study found that Q175FDN mice exhibited earlier onset and a greater variety and severity of Huntington disease (HD)-like phenotypes as compared to Q175F mice. The characterization of Q175FDN mice suggests this model offers an improved reproduction of HD phenotypes with the mutation in the knocked-in heterozygous state.
Here we show that elimination of Htt expression in the adult mouse results in behavioral deficits, progressive neuropathological changes including bilateral thalamic calcification, and altered brain iron homeostasis.
Mutant huntingtin markedly accelerates compromised nuclear envelope integrity, impaired nucleocytoplasmic transport, and accumulation of DNA double-strand breaks associated with aging. HTT-linked polyQ initially accumulates in nuclei, leading to disruption of nuclear envelope architecture, partial sequestration of factors essential for nucleocytoplasmic transport (Gle1 (show GLE1 ELISA Kits) and RanGAP1 (show RANGAP1 ELISA Kits)), and intranuclear accumulation of mRNA.
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression.
, Huntington's disease protein
, huntingtin (Huntington disease)
, solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
, Huntington disease
, huntington disease protein
, HD protein homolog
, Huntington disease gene homolog
, huntington disease protein homolog