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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 reg'd genes. An LXR agonist partially rescued the phenotype and expression of LXR target genes in huntingtin deficient zebrafish during early development.
Jp modifies the neuronal degeneration in a Drosophila model of Huntington's disease, and it has uncoveedr an unsuspected functional relationship with the Notch pathway.
Data strongly suggest that mutant Htt expression exclusively in all the CNS and PNS neurons leads to fluctuation of body weight, carbohydrate and protein stores, global lipid levels along with the intracellular lipid deposits through its effect on the integrated process of metabolic homeostasis. These results also support the idea that lipid metabolism remains centrally affected in HD leading to altered body weight.
These results therefore identify native Htt as a regulator of synaptic capture and neuropeptide storage.
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 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 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.
a genomewide RNA interference screen for regulators of mutant Htt aggregation
genes related to nuclear transport, nucleotide processes, and signaling are modifiers of huntingtin aggregation
Data indicate that Drosophila and Human Htt share biological properties, and confirm a model whereby Engrailed activates endogenous dhtt, which in turn prevents polyQ-hHtt-induced phenotypes
mutant ataxin-1 and huntingtin induce developmental and late-onset neuronal pathologies in Drosophila models
dHtt is required for maintaining the mobility and long-term survival of adult animals, and for modulating axonal terminal complexity in the adult brain.
polyQ-expanded Htt-N552 and Atx-3 sequester endogenous Ub adaptors, human RAD23 homolog B (hHR23B) and ubiquilin (UBQLN)-2, into inclusions. This sequestration effect is dependent on the UBA domains of Ub adaptors and the conjugated Ub of the aggregated proteins.
Data suggest that profiling-1 (PFN1) preferentially binds to Huntingtin N-terminal fragment (HTT-NTF) M-phase species and destabilizes aggregation and phase separation by shifting concentration boundaries for phase separation to higher values through a process known as polyphasic linkage; this phenomena occurs irrespective of polyglutamine length in HTT-NTF.
Using drug screening in C. elegans nematodes with neuronal expression of human exon-1 huntingtin (128Q), we found that 3ss-Methoxy-Pregnenolone (MAP4343), 17b-oestradiol (17ssE2) and 12 flavonoids including isoquercitrin promote neuronal function in 128Q nematodes.
Rictor striatal levels could counteract neuronal dysfunction induced by mutant huntingtin.
Data report that mHtt inclusion bodies (IBs) recruit catalytically active enzymes involved in (de)-ubiquitination processes based on novel activity-based probes.
Study showed that SV2C is highly expressed in the basal ganglia and hippocampus of mice and that there is a specific and progressive decrease in SV2C mRNA and protein expression in both Huntington's disease (HD) mice and a cell model. These findings suggest that the synaptic dysfunction in HD results from the mutant Htt-mediated inhibition of SV2C transcriptional expression.
Inverse relationship has been found between the length of CAG HTT repeats and age at clinical onset of Huntington's Disease in Indian population.
Polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis, including oxidative stress, mitochondrial dysfunction, glutamatergic dysfunction and neuroinflammation. [Review]
The number of repeats in HTT, had a non-linear effect on a measure of general intelligence with an inverted U shape pattern. Increasing repeat length was associated with higher GAI scores up until roughly 40-41 repeats. After this peak, increasing repeat length was associated with declining GAI scores.
Results show that not only prolonged fasting but also scheduled feeding without forcibly reducing calorie intake alters nutrient-sensing pathways and activates autophagy in mouse brain. This intervention furthermore reduces the amounts of mutant HTT protein, and may thus contribute to its clearance.
The single overexpression of DNAJB1 in HEK293T cells is sufficient to profoundly reduce HttExon1Q97 aggregation and represents a target of future therapeutic avenues for HD.
We found that the HTTexon1 mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sensory motor cortex, hippocampus and cerebellum of post-mortem brains from HD individuals, particularly in those with early onset disease.
The two kinases HIPK3 and MAPK11 effect on Huntingtin (HTT)levels are mutant HTT protein (mHTT)-dependent, providing a feedback mechanism in which mHTT enhances its own level thus contributing to mHTT accumulation and disease progression.
Lipid-based micellar nanoparticles promote aggregation of huntingtin exon-1 peptides. This study characterizes the interaction of two such peptides, htt(NT)Q7 and htt(NT)Q10 comprising the N-terminal amphiphilic domain of huntingtin followed by 7 and 10 glutamine repeats, respectively, with 8 nm lipid micelles. Monomer-dimer equilibrium exists on the surface of the micelles.
Study shows that lifetime depression risk was higher with both relatively short and relatively large Huntigtin CAG repeat sizes in the normal range.
huntingtin T3 phosphorylation is greatly reduced in samples from Huntington's disease models and in Huntington's disease patients, and T3 phosphorylation alters Huntingtin exon 1 protein conformation and aggregation properties
Multiple factors that decreased cytotoxicity of Htt-103Q (changing the length of or sequences adjacent to the polyQ, altering ploidy or chaperone dosage, or deleting anti-aging factors) altered the Htt-103Q aggregation pattern in which the suite of mid-sized aggregates at 6 hr were most correlative with cytotoxicity.
Monomeric Huntingtin Exon 1 Has Similar Overall Structural Features for Wild-Type and Pathological Polyglutamine Lengths
This study aims to establish the current state of the IT-15 (HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats, compared with the ethnicity of individuals.
GSK3beta may inhibit VRK2 catalytic activity by disrupting its flexibility. The inhibition of VRK2 catalytic activity by GSK3beta may also inhibit VRK2-induced degradation of TRiC, which could suppress polyQ-expanded Htt aggregation.
Transient knock-down of Meg3 and Neat1 in cell models of HD led to a significant decrease of aggregates formed by mutant huntingtin and downregulation of the endogenous Tp53 expression
RNA polymerase II transcription speed regulates the levels of HTTexon1 production.
Herp is a newly identified huntingtin-interacting protein that is able to reduce the cytotoxicity of mutant huntingtin by inhibiting its aggregation and promoting its degradation.
This study reports that the gain-of-function mutation of full-length basally-expressing Htt in Huntington's disease cell Q111 (STHdhQ111/HdhQ111) upregulated microRNA-214 and decreased beta catenin & its transcriptional activity in an aggregate-independent manner.
This study conclude that expanded polyglutamine repeats of htt protein influence Huntington's Disease pathogenesis in a sex-dependent manner
expression of mutant HTT in Sim1 cells may play a role for the development of metabolic dysfunction and depressive-like behavior in male BACHD mice.
full-length endogenous Htt, which was immunoprecipitated from HD knock-in mouse and human post-mortem brain, is suitable for detection of PTMs by mass spectrometry
Knockdown of DNMT3A or DNMT1 protected neurons against mutant Htt-induced toxicity, together demonstrating a requirement for DNMTs in mutant Htt-triggered neuronal death and suggesting a neurodegenerative mechanism based on DNA methylation-mediated transcriptional repression.
Soluble mutant Httex1 stimulated the largest changes in the Neuro2a cells tanscriptome. Inactivated CREB signalling is the most profound impact arising from soluble Httex1.
This study demonstrates that loss of Htt function during neural development leads to HD-like neurological abnormalities in mice.
treating BACHD cortical neurons with ApiCCT1 prevented BACHD striatal neuronal atrophy by enhancing release of BDNF that subsequently acts through tyrosine receptor kinase B (TrkB) receptor on striatal neurons. Our findings are evidence that TRiC reagent-mediated reductions in mHTT enhanced BDNF delivery to restore the trophic status of BACHD striatal neurons.
identify 4 huntingtin-targeting miRNAs viz. miR-125b, miR-146a, miR-150 and miR-214 as candidate miRNAs responsible for observed inhibitory effect of HSF1 on huntingtin expression.
cells expressing mutant huntingtin have a dysregulated transcriptional response to epidermal growth factor stimulation
Mutant htt is implicated in Huntington's disease-related alterations of neurotransmission.
The authors show that disease-inducing Huntingtin (mHtt) protein fragments display three distinct dynamic states in living cells - 1) fast diffusion, 2) dynamic clustering and 3) stable aggregation.
Study shows that a novel form of mHTT aggregate is generated in the brains of Huntington's disease models during embryonic development and that this persists for a variable period of time in the post-natal mouse in a diffuse form, distributed widely throughout the cerebrum.
Study investigates the consequence of deleting mouse Huntingtin's (Htt's) N17 domain or a combination of its polyQ stretch and PRR (QP) on normal Htt function in mice. findings support the hypothesis that Htt's N17 and QP domains are dispensable for its critical functions during early embryonic development, but are likely more important for Htt functions in CNS development or maintenance.
Mutant Htt reduces expression of alphaB-crystallin 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, PPARd, PGC-1a signaling pathway, enhanced mitochondrial biogenesis and improved antioxidant defense in the striatum of BACHD mice
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