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Search results 801 to 900 out of 1078 for Htt

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Type Details Score
Protein Domain
Type: Repeat
Description: This repeated domain is less than 40 amino acids in length and is present in huntingtin protein (Htt). Htt is expressed in many tissues, with various expression levels and is involved in a number of cellular functions. However, its exact function is not yet clear. An abnormal polyglutamine (polyQ) expansion in this protein causes Huntington's disease (HD), a progressive autosomal-dominant neurodegenerative disease characterised by an uncontrolled motor movement known as chorea, cognitive disorder and depression []. Htt consists of multiple HEAT repeats organised in N-terminal, bridge and C-terminal domains [, ], which function as a scaffold that mediates interactions with binding partners. This domain connects the N- and C-HEAT domains.
Publication
First Author: Cheng PH
Year: 2013
Journal: Am J Hum Genet
Title: miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models.
Volume: 93
Issue: 2
Pages: 306-12
Publication
First Author: Cheng PH
Year: 2013
Journal: Brain Struct Funct
Title: Significantly differential diffusion of neuropathological aggregates in the brain of transgenic mice carrying N-terminal mutant huntingtin fused with green fluorescent protein.
Volume: 218
Issue: 1
Pages: 283-94
Allele  
Name: deletion, Chr 5, John C. Schimenti 4; deletion, Chr 5, John C Schimenti 4
Allele Type: Radiation induced
Allele  
Name: deletion, Chr 5, John C Schimenti; deletion, Chr 5, John C Schimenti 1
Allele Type: Radiation induced
Allele  
Name: deletion, Chr 5, John C. Schimenti 5; deletion, Chr 5, John C Schimenti 5
Allele Type: Radiation induced
Strain
Attribute String: mutant stock, transgenic
Strain
Attribute String: mutant stock, transgenic
Allele  
Name: deletion, Chr 5, John C. Schimenti 2; deletion, Chr 5, John C Schimenti 2
Allele Type: Chemically induced (ENU)
Allele
Name: huntingtin; targeted mutation 1.1, Marie-Francoise Chesselet
Allele Type: Targeted
Attribute String: Humanized sequence
Allele
Name: huntingtin; targeted mutation 1, TaconicArtemis
Allele Type: Targeted
Attribute String: Inserted expressed sequence, Null/knockout
Allele
Name: huntingtin; targeted mutation 6, Marcy E MacDonald
Allele Type: Targeted
Attribute String: Humanized sequence
Allele
Name: huntingtin; endonuclease-mediated mutation 2, David Howland
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: huntingtin; endonuclease-mediated mutation 1, David Howland
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: huntingtin; endonuclease-mediated mutation 3, David Howland
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele  
Name: deletion, Chr 5, John C. Schimenti 3; deletion, Chr 5, John C Schimenti 3
Allele Type: Radiation induced
Allele
Name: transgene insertion 1, Michelle E Erlich
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: transgene insertion 4a, Xiao-Jiang Li
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: transgene insertion 190, Nobuyuki Nukina
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence, Reporter
Genotype
Symbol: Tg(YAC18)18Hay/?
Background: involves: FVB/N
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*/EGFP)150Nn/?
Background: involves: C57BL/6 * DBA/2
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(YAC18)18Hay/?
Background: involves: FVB/N
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(Prnp-SNAP25/HTT*150Q)8Xjl/?
Background: involves: FVB
Zygosity: ot
Has Mutant Allele: true
HT Experiment
Series Id: GSE3248
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: ArrayExpress
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Wu TT
Year: 2020
Journal: Stem Cells
Title: Mesenchymal stem cells alleviate AQP-4-dependent glymphatic dysfunction and improve brain distribution of antisense oligonucleotides in BACHD mice.
Volume: 38
Issue: 2
Pages: 218-230
Publication  
First Author: Doria JG
Year: 2015
Journal: Neurobiol Dis
Title: The mGluR5 positive allosteric modulator, CDPPB, ameliorates pathology and phenotypic signs of a mouse model of Huntington's disease.
Volume: 73
Pages: 163-73
Publication
First Author: Oliveira AO
Year: 2016
Journal: Hum Mol Genet
Title: αB-Crystallin overexpression in astrocytes modulates the phenotype of the BACHD mouse model of Huntington's disease.
Volume: 25
Issue: 9
Pages: 1677-89
HT Experiment
Series Id: GSE50379
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: Baldo B
Year: 2014
Journal: PLoS One
Title: Effects of deletion of mutant huntingtin in steroidogenic factor 1 neurons on the psychiatric and metabolic phenotype in the BACHD mouse model of Huntington disease.
Volume: 9
Issue: 10
Pages: e107691
Publication
First Author: Shirendeb UP
Year: 2012
Journal: Hum Mol Genet
Title: Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease.
Volume: 21
Issue: 2
Pages: 406-20
Allele
Name: transgene insertion B, X William Yang
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Allele
Name: transgene insertion 1, X William Yang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Strain
Attribute String: congenic, mutant strain, targeted mutation
Strain
Attribute String: targeted mutation, mutant strain, congenic
Strain
Attribute String: congenic, endonuclease-mediated mutation, mutant strain
Strain
Attribute String: transgenic, coisogenic
Publication
First Author: Brown TB
Year: 2008
Journal: Hum Mol Genet
Title: Neocortical expression of mutant huntingtin is not required for alterations in striatal gene expression or motor dysfunction in a transgenic mouse.
Volume: 17
Issue: 20
Pages: 3095-104
Allele
Name: transgene insertion L, X William Yang
Allele Type: Transgenic
Attribute String: Conditional ready, Humanized sequence, Inserted expressed sequence
Allele
Name: transgene insertion 22, Shang-Hsun Yang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence, Reporter
Strain
Attribute String: mutant stock, transgenic
Genotype
Symbol: Ift172/Ift172<+> Del(5D5Mit73-D5Mit351)5Jcs/?
Background: involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit73-D5Mit351)5Jcs/+
Background: mixed
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt
Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit73-D5Mit351)5Jcs/+
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit388-D5Mit351)4Jcs/+
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5Letm1-Htt)1Jcs/+
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit148-Qdpr)2Jcs/+
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5Letm1-D5Mit81)3Jcs/+
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5Letm1-D5Mit81)3Jcs/+
Background: involves: 129S4/SvJae * C3H * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit73-D5Mit351)5Jcs/+
Background: involves: 129S4/SvJae * C3H * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Del(5D5Mit148-Qdpr)2Jcs/+
Background: involves: 129S4/SvJae * C3H * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Tg(Ppp1r1b-HTT*)1Meeh/?
Background: C57BL/6J-Tg(Ppp1r1b-HTT*)1Meeh
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*/EGFP)190Nn/?
Background: involves: C57BL/6 * DBA/2
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(Plp1-HTT*150Q)4aXjl/?
Background: Not Specified
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt<+>
Background: Not Specified
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt<+>
Background: B6.129S1-Htt/190ChdiJ
Zygosity: ht
Has Mutant Allele: true
Publication    
First Author: Kudwa AE
Year: 2013
Journal: PLoS Curr
Title: Increased Body Weight of the BAC HD Transgenic Mouse Model of Huntington's Disease Accounts for Some but Not All of the Observed HD-like Motor Deficits.
Volume: 5
Publication
First Author: Gafni J
Year: 2012
Journal: J Neurosci
Title: Caspase-6 activity in a BACHD mouse modulates steady-state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.
Volume: 32
Issue: 22
Pages: 7454-65
Publication
First Author: Thomas EA
Year: 2011
Journal: Hum Mol Genet
Title: In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons.
Volume: 20
Issue: 6
Pages: 1049-60
Publication
First Author: Simmons DA
Year: 2016
Journal: Hum Mol Genet
Title: A small molecule p75NTR ligand normalizes signalling and reduces Huntington's disease phenotypes in R6/2 and BACHD mice.
Volume: 25
Issue: 22
Pages: 4920-4938
Publication
First Author: Waldron-Roby E
Year: 2012
Journal: J Neurosci
Title: Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin.
Volume: 32
Issue: 1
Pages: 183-93
Publication
First Author: Gray M
Year: 2008
Journal: J Neurosci
Title: Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice.
Volume: 28
Issue: 24
Pages: 6182-95
Publication
First Author: Siebzehnrübl FA
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition.
Volume: 115
Issue: 37
Pages: E8765-E8774
Publication
First Author: Pouladi MA
Year: 2010
Journal: Hum Mol Genet
Title: Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.
Volume: 19
Issue: 8
Pages: 1528-38
Publication
First Author: Kurosawa M
Year: 2015
Journal: Hum Mol Genet
Title: Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice.
Volume: 24
Issue: 4
Pages: 1092-105
Publication
First Author: Kwan W
Year: 2012
Journal: J Clin Invest
Title: Mutant huntingtin impairs immune cell migration in Huntington disease.
Volume: 122
Issue: 12
Pages: 4737-47
Allele
Name: transgene insertion N, X William Yang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: transgene insertion A, X William Yang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Strain
Attribute String: congenic, mutant strain, targeted mutation
Allele
Name: transgene insertion L, X William Yang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Publication
First Author: Leavitt BR
Year: 2006
Journal: J Neurochem
Title: Wild-type huntingtin protects neurons from excitotoxicity.
Volume: 96
Issue: 4
Pages: 1121-9
Strain
Attribute String: coisogenic, mutant strain, transgenic
Strain
Attribute String: transgenic, mutant strain, coisogenic
Strain
Attribute String: coisogenic, mutant strain, transgenic
Allele
Name: transgene insertion 52, Christopher A Ross
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Genotype
Symbol: Hm/Hm<+> Del(5D5Mit73-D5Mit351)5Jcs/?
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt
Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*97Q)LXwy/?
Background: FVB-Tg(HTT*97Q)LXwy
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(UBC-GFP/HTT*84Q)22Shya/?
Background: involves: FVB
Zygosity: ot
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 3119  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 3120  
Fragment?: false
Publication
First Author: Dickey AS
Year: 2016
Journal: Nat Med
Title: PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically.
Volume: 22
Issue: 1
Pages: 37-45
Publication
First Author: Clark RM
Year: 2001
Journal: Genetics
Title: Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
Volume: 159
Issue: 2
Pages: 715-26
Strain
Attribute String: transgenic, mutant strain, coisogenic
Strain
Attribute String: coisogenic, mutant strain, transgenic
Strain
Attribute String: transgenic, mutant strain, coisogenic
Strain
Attribute String: coisogenic, mutant strain, transgenic
Strain
Attribute String: transgenic, mutant strain, coisogenic
Strain
Attribute String: congenic, endonuclease-mediated mutation, mutant strain
Publication
First Author: Valenza M
Year: 2007
Journal: Hum Mol Genet
Title: Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.
Volume: 16
Issue: 18
Pages: 2187-98
Publication
First Author: Tang TS
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.
Volume: 102
Issue: 7
Pages: 2602-7
Allele
Name: transgene insertion I, X William Yang
Allele Type: Transgenic
Attribute String: Conditional ready, Humanized sequence, Inserted expressed sequence
Genotype
Symbol: Lmbr1/Lmbr1<+> Del(5D5Mit73-D5Mit351)5Jcs/?
Background: mixed
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt
Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*)BXwy/?
Background: FVB-Tg(HTT*)BXwy
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*)1Xwy/?
Background: FVB-Tg(HTT*)1Xwy
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Htt/Htt Tg(YAC18)18Hay/?
Background: involves: FVB/N
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*)NXwy/?
Background: involves: FVB/NJ
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(HTT*)LXwy/?
Background: involves: FVB/NJ
Zygosity: ot
Has Mutant Allele: true