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MGI:Htt
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Htt ( synonyms: HD, Hdh, htt, huntingtin, IT15 ) | |
| Protein Name(s) | huntingtin, | |
| External Links | ||
| MGI | MGI:96067 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0000050 |
urea cycle |
MGI:MGI:3712404 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0000052 |
citrulline metabolic process |
MGI:MGI:3712404 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0000132 |
establishment of mitotic spindle orientation |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0002039 |
p53 binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:1206607 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3046393 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3710465 |
IPI: Inferred from Physical Interaction |
UniProtKB:Q9D4H8 |
F |
From MGI |
||
| GO:0005515 |
protein binding |
MGI:MGI:3836371 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005622 |
intracellular |
MGI:MGI:3055268 |
IMP: Inferred from Mutant Phenotype |
C |
From MGI |
|||
| GO:0005622 |
intracellular |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
C |
From MGI |
||
| GO:0005623 |
cell |
MGI:MGI:1333401 |
IMP: Inferred from Mutant Phenotype |
C |
From MGI |
|||
| GO:0005623 |
cell |
MGI:MGI:2387270 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2388032 |
C |
From MGI |
||
| GO:0005624 |
membrane fraction |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005625 |
soluble fraction |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005625 |
soluble fraction |
MGI:MGI:80477 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005634 |
nucleus |
MGI:MGI:4459044 |
PANTHER:PTHR10170 |
C |
From MGI |
|||
| GO:0005634 |
nucleus |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:1354105 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:3619488 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:72655 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:77131 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:82391 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005739 |
mitochondrion |
MGI:MGI:3582129 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
C |
From MGI |
||
| GO:0005770 |
late endosome |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005776 |
autophagic vacuole |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005794 |
Golgi apparatus |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005829 |
cytosol |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0006606 |
protein import into nucleus |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0006839 |
mitochondrial transport |
MGI:MGI:3055268 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0006888 |
ER to Golgi vesicle-mediated transport |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0006890 |
retrograde vesicle-mediated transport, Golgi to ER |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0006915 |
apoptotic process |
MGI:MGI:76798 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857722 |
P |
From MGI |
||
| GO:0006916 |
anti-apoptosis |
MGI:MGI:3046393 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0007005 |
mitochondrion organization |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0007029 |
endoplasmic reticulum organization |
MGI:MGI:3608142 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0007030 |
Golgi organization |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0007212 |
dopamine receptor signaling pathway |
MGI:MGI:3719127 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0007283 |
spermatogenesis |
MGI:MGI:1926691 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177767 |
P |
From MGI |
||
| GO:0007369 |
gastrulation |
MGI:MGI:73644 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0007369 |
gastrulation |
MGI:MGI:74603 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0007369 |
gastrulation |
MGI:MGI:76798 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857722 |
P |
From MGI |
||
| GO:0007417 |
central nervous system development |
MGI:MGI:1100164 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3697906 |
P |
From MGI |
||
| GO:0007420 |
brain development |
MGI:MGI:3689287 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2675580 |
P |
From MGI |
||
| GO:0007569 |
cell aging |
MGI:MGI:3619488 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3603606 |
P |
From MGI |
||
| GO:0007610 |
behavior |
MGI:MGI:1355044 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0007611 |
learning or memory |
MGI:MGI:3619488 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3603606 |
P |
From MGI |
||
| GO:0007612 |
learning |
MGI:MGI:3663582 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:1926691 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177767 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:1929816 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:2150498 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:2387270 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2388032 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:2673767 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2675580 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:3619488 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3603606 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:3719127 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0007626 |
locomotory behavior |
MGI:MGI:73644 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0008088 |
axon cargo transport |
MGI:MGI:3055268 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0008134 |
transcription factor binding |
MGI:MGI:3806183 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0008306 |
associative learning |
MGI:MGI:3699990 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
P |
From MGI |
||
| GO:0008340 |
determination of adult lifespan |
MGI:MGI:1926691 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177767 |
P |
From MGI |
||
| GO:0008340 |
determination of adult lifespan |
MGI:MGI:1929816 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0008542 |
visual learning |
MGI:MGI:73644 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0009653 |
anatomical structure morphogenesis |
MGI:MGI:3609520 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0009790 |
embryo development |
MGI:MGI:1100164 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3697906 |
P |
From MGI |
||
| GO:0009790 |
embryo development |
MGI:MGI:3689287 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2675580 |
P |
From MGI |
||
| GO:0009952 |
anterior/posterior pattern specification |
MGI:MGI:3609520 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0016023 |
cytoplasmic membrane-bounded vesicle |
MGI:MGI:3046393 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0016197 |
endosome transport |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0016234 |
inclusion body |
MGI:MGI:3522382 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0019244 |
lactate biosynthetic process from pyruvate |
MGI:MGI:3757902 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0019805 |
quinolinate biosynthetic process |
MGI:MGI:3653320 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
P |
From MGI |
||
| GO:0019805 |
quinolinate biosynthetic process |
MGI:MGI:3653320 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861935 |
P |
From MGI |
||
| GO:0021756 |
striatum development |
MGI:MGI:1926548 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177751 |
P |
From MGI |
||
| GO:0021756 |
striatum development |
MGI:MGI:1926548 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177753 |
P |
From MGI |
||
| GO:0021756 |
striatum development |
MGI:MGI:3719127 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0021988 |
olfactory lobe development |
MGI:MGI:2673767 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2675580 |
P |
From MGI |
||
| GO:0021990 |
neural plate formation |
MGI:MGI:73644 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0022008 |
neurogenesis |
MGI:MGI:1926691 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177767 |
P |
From MGI |
||
| GO:0030072 |
peptide hormone secretion |
MGI:MGI:1333401 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0030072 |
peptide hormone secretion |
MGI:MGI:2387270 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2388032 |
P |
From MGI |
||
| GO:0030073 |
insulin secretion |
MGI:MGI:1333401 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0030424 |
axon |
MGI:MGI:2181838 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0030424 |
axon |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0030424 |
axon |
MGI:MGI:82391 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0030425 |
dendrite |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0030659 |
cytoplasmic vesicle membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0034047 |
regulation of protein phosphatase type 2A activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0034452 |
dynactin binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0035176 |
social behavior |
MGI:MGI:1336581 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177751 |
P |
From MGI |
||
| GO:0042445 |
hormone metabolic process |
MGI:MGI:1333401 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0042445 |
hormone metabolic process |
MGI:MGI:1355425 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2388032 |
P |
From MGI |
||
| GO:0043234 |
protein complex |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0043524 |
negative regulation of neuron apoptotic process |
MGI:MGI:1929816 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177757 |
P |
From MGI |
||
| GO:0045505 |
dynein intermediate chain binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0046902 |
regulation of mitochondrial membrane permeability |
MGI:MGI:3582129 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
P |
From MGI |
||
| GO:0047496 |
vesicle transport along microtubule |
MGI:MGI:3046393 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0047496 |
vesicle transport along microtubule |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0048167 |
regulation of synaptic plasticity |
MGI:MGI:1336480 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0048167 |
regulation of synaptic plasticity |
MGI:MGI:3703330 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
P |
From MGI |
||
| GO:0048167 |
regulation of synaptic plasticity |
MGI:MGI:3703330 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861935 |
P |
From MGI |
||
| GO:0048341 |
paraxial mesoderm formation |
MGI:MGI:3609520 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:0048487 |
beta-tubulin binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0048666 |
neuron development |
MGI:MGI:1333301 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0048666 |
neuron development |
MGI:MGI:3689287 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2675580 |
P |
From MGI |
||
| GO:0048666 |
neuron development |
MGI:MGI:73644 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0050809 |
diazepam binding |
MGI:MGI:1333301 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
F |
From MGI |
||
| GO:0051402 |
neuron apoptotic process |
MGI:MGI:1333301 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
||
| GO:0051402 |
neuron apoptotic process |
MGI:MGI:3699769 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177753 |
P |
From MGI |
||
| GO:0051592 |
response to calcium ion |
MGI:MGI:3582129 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1861934 |
P |
From MGI |
||
| GO:0051881 |
regulation of mitochondrial membrane potential |
MGI:MGI:3757902 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0051938 |
L-glutamate import |
MGI:MGI:3699769 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177753 |
P |
From MGI |
||
| GO:0055072 |
iron ion homeostasis |
MGI:MGI:3619161 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857180 |
P |
From MGI |
||
| GO:2001237 |
negative regulation of extrinsic apoptotic signaling pathway |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
|
NOT |
GO:0048666 |
neuron development |
MGI:MGI:1331318 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2177743 |
P |
From MGI |
|
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Chiang MC et al. (2007) Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Hum Mol Genet 16: 483-98 PubMed GONUTS page
- ↑ Bertaux F et al. (1998) HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. FEBS Lett 426: 229-32 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 3.3 Gauthier LR et al. (2004) Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 118: 127-38 PubMed GONUTS page
- ↑ Kaltenbach LS et al. (2007) Huntingtin interacting proteins are genetic modifiers of neurodegeneration. PLoS Genet 3: e82 PubMed GONUTS page
- ↑ Luo S & Rubinsztein DC (2009) Huntingtin promotes cell survival by preventing Pak2 cleavage. J Cell Sci 122: 875-85 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 Trushina E et al. (2004) Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Mol Cell Biol 24: 8195-209 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 Hilditch-Maguire P et al. (2000) Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet 9: 2789-97 PubMed GONUTS page
- ↑ 8.0 8.1 8.2 8.3 Hurlbert MS et al. (1999) Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes 48: 649-51 PubMed GONUTS page
- ↑ 9.0 9.1 9.2 Menalled LB et al. (2002) Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J Neurosci 22: 8266-76 PubMed GONUTS page
- ↑ Wood JD et al. (1996) Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain. Hum Mol Genet 5: 481-7 PubMed GONUTS page
- ↑ Wheeler VC et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9: 503-13 PubMed GONUTS page
- ↑ 12.0 12.1 12.2 12.3 Clabough EB & Zeitlin SO (2006) Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro. Hum Mol Genet 15: 607-23 PubMed GONUTS page
- ↑ Trottier Y et al. (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 10: 104-10 PubMed GONUTS page
- ↑ Tatter SB et al. (1995) Effects of striatal excitotoxicity on huntingtin-like immunoreactivity. Neuroreport 6: 1125-9 PubMed GONUTS page
- ↑ 15.0 15.1 Bhide PG et al. (1996) Expression of normal and mutant huntingtin in the developing brain. J Neurosci 16: 5523-35 PubMed GONUTS page
- ↑ 16.0 16.1 16.2 Brustovetsky N et al. (2005) Age-dependent changes in the calcium sensitivity of striatal mitochondria in mouse models of Huntington's Disease. J Neurochem 93: 1361-70 PubMed GONUTS page
- ↑ 17.0 17.1 Zeitlin S et al. (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11: 155-63 PubMed GONUTS page
- ↑ Omi K et al. (2005) siRNA-mediated inhibition of endogenous Huntington disease gene expression induces an aberrant configuration of the ER network in vitro. Biochem Biophys Res Commun 338: 1229-35 PubMed GONUTS page
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- ↑ Shelbourne PF et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet 8: 763-74 PubMed GONUTS page
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- ↑ 43.0 43.1 Li H et al. (2000) Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 25: 385-9 PubMed GONUTS page
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