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KEGG   PATHWAY: hsa05016
hsa05016                    Pathway                                
Huntington disease - Homo sapiens (human)
Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine (polyQ) close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. Full-length huntingtin is cleaved by proteases in the cytoplasm, leading to the formation of cytoplasmic and neuritic aggregates. mHtt also alters vesicular transport and recycling, causes cytosolic and mitochondrial Ca2+  overload, triggers endoplasmic reticulum stress through proteasomal dysfunction, and impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ strech translocate to the nucleus where they impair transcription and induce neuronal death.
Human Diseases; Neurodegenerative disease
Pathway map
hsa05016  Huntington disease

nt06461  Huntington disease
nt06466  Pathways of neurodegeneration
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
N00979  Mutation-caused aberrant Htt to anterograde axonal transport
N00980  Mutation-caused aberrant Htt to REST-mediated transcriptional repression
N00981  Mutation-caused aberrant Htt to CREB-mediated transcription
N00982  Mutation-caused aberrant Htt to p53-mediated transcription
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N00989  Mutation-caused aberrant Htt to electron transfer in Complex II
N00991  Mutation-caused aberrant Htt to electron transfer in Complex III
N00992  Mutation-caused aberrant Htt to TNF-JNK signaling pathway
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
N01061  Mutation-caused aberrant Htt to 26S proteasome-mediated protein degradation
H00059  Huntington disease
D12012  Tominersen sodium (JAN)
D12013  Tominersen (USAN/INN)
Homo sapiens (human) [GN:hsa]
1211  CLTA; clathrin light chain A [KO:K04644]
1212  CLTB; clathrin light chain B [KO:K04645]
1213  CLTC; clathrin heavy chain [KO:K04646]
8218  CLTCL1; clathrin heavy chain like 1 [KO:K04646]
3092  HIP1; huntingtin interacting protein 1 [KO:K04559]
161  AP2A2; adaptor related protein complex 2 subunit alpha 2 [KO:K11824]
160  AP2A1; adaptor related protein complex 2 subunit alpha 1 [KO:K11824]
163  AP2B1; adaptor related protein complex 2 subunit beta 1 [KO:K11825]
1173  AP2M1; adaptor related protein complex 2 subunit mu 1 [KO:K11826]
1175  AP2S1; adaptor related protein complex 2 subunit sigma 1 [KO:K11827]
3064  HTT; huntingtin [KO:K04533]
1639  DCTN1; dynactin subunit 1 [KO:K04648]
10540  DCTN2; dynactin subunit 2 [KO:K10424]
11258  DCTN3; dynactin subunit 3 [KO:K10425]
51164  DCTN4; dynactin subunit 4 [KO:K10426]
84516  DCTN5; dynactin subunit 5 [KO:K10427]
10671  DCTN6; dynactin subunit 6 [KO:K10428]
10121  ACTR1A; actin related protein 1A [KO:K16575]
10120  ACTR1B; actin related protein 1B [KO:K16575]
55860  ACTR10; actin related protein 10 [KO:K16576]
9001  HAP1; huntingtin associated protein 1 [KO:K04647]
25981  DNAH1; dynein axonemal heavy chain 1 [KO:K10408]
55567  DNAH3; dynein axonemal heavy chain 3 [KO:K10408]
146754  DNAH2; dynein axonemal heavy chain 2 [KO:K10408]
56171  DNAH7; dynein axonemal heavy chain 7 [KO:K10408]
1767  DNAH5; dynein axonemal heavy chain 5 [KO:K10408]
1768  DNAH6; dynein axonemal heavy chain 6 [KO:K10408]
1770  DNAH9; dynein axonemal heavy chain 9 [KO:K10408]
8701  DNAH11; dynein axonemal heavy chain 11 [KO:K10408]
201625  DNAH12; dynein axonemal heavy chain 12 [KO:K10408]
127602  DNAH14; dynein axonemal heavy chain 14 [KO:K10408]
1769  DNAH8; dynein axonemal heavy chain 8 [KO:K10408]
196385  DNAH10; dynein axonemal heavy chain 10 [KO:K10408]
8632  DNAH17; dynein axonemal heavy chain 17 [KO:K10408]
7802  DNALI1; dynein axonemal light intermediate chain 1 [KO:K10410]
27019  DNAI1; dynein axonemal intermediate chain 1 [KO:K10409]
64446  DNAI2; dynein axonemal intermediate chain 2 [KO:K11143]
83544  DNAL1; dynein axonemal light chain 1 [KO:K10411]
10126  DNAL4; dynein axonemal light chain 4 [KO:K10412]
10376  TUBA1B; tubulin alpha 1b [KO:K07374]
7277  TUBA4A; tubulin alpha 4a [KO:K07374]
7278  TUBA3C; tubulin alpha 3c [KO:K07374]
7846  TUBA1A; tubulin alpha 1a [KO:K07374]
84790  TUBA1C; tubulin alpha 1c [KO:K07374]
51807  TUBA8; tubulin alpha 8 [KO:K07374]
112714  TUBA3E; tubulin alpha 3e [KO:K07374]
113457  TUBA3D; tubulin alpha 3d [KO:K07374]
79861  TUBAL3; tubulin alpha like 3 [KO:K07374]
84617  TUBB6; tubulin beta 6 class V [KO:K07375]
203068  TUBB; tubulin beta class I [KO:K07375]
81027  TUBB1; tubulin beta 1 class VI [KO:K07375]
7280  TUBB2A; tubulin beta 2A class IIa [KO:K07375]
10381  TUBB3; tubulin beta 3 class III [KO:K07375]
10382  TUBB4A; tubulin beta 4A class IVa [KO:K07375]
347688  TUBB8; tubulin beta 8 class VIII [KO:K07375]
347733  TUBB2B; tubulin beta 2B class IIb [KO:K07375]
10383  TUBB4B; tubulin beta 4B class IVb [KO:K07375]
5599  MAPK8; mitogen-activated protein kinase 8 [KO:K04440] [EC:]
5602  MAPK10; mitogen-activated protein kinase 10 [KO:K04440] [EC:]
5601  MAPK9; mitogen-activated protein kinase 9 [KO:K04440] [EC:]
3798  KIF5A; kinesin family member 5A [KO:K10396]
3799  KIF5B; kinesin family member 5B [KO:K10396]
3800  KIF5C; kinesin family member 5C [KO:K10396]
147700  KLC3; kinesin light chain 3 [KO:K10407]
3831  KLC1; kinesin light chain 1 [KO:K10407]
64837  KLC2; kinesin light chain 2 [KO:K10407]
89953  KLC4; kinesin light chain 4 [KO:K10407]
55081  IFT57; intraflagellar transport 57 [KO:K04638]
841  CASP8; caspase 8 [KO:K04398] [EC:]
836  CASP3; caspase 3 [KO:K02187] [EC:]
2915  GRM5; glutamate metabotropic receptor 5 [KO:K04604]
2776  GNAQ; G protein subunit alpha q [KO:K04634]
23236  PLCB1; phospholipase C beta 1 [KO:K05858] [EC:]
5330  PLCB2; phospholipase C beta 2 [KO:K05858] [EC:]
5331  PLCB3; phospholipase C beta 3 [KO:K05858] [EC:]
5332  PLCB4; phospholipase C beta 4 [KO:K05858] [EC:]
6804  STX1A; syntaxin 1A [KO:K04560]
774  CACNA1B; calcium voltage-gated channel subunit alpha1 B [KO:K04849]
2902  GRIN1; glutamate ionotropic receptor NMDA type subunit 1 [KO:K05208]
2904  GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B [KO:K05210]
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958]
1742  DLG4; discs large MAGUK scaffold protein 4 [KO:K11828]
2890  GRIA1; glutamate ionotropic receptor AMPA type subunit 1 [KO:K05197]
2891  GRIA2; glutamate ionotropic receptor AMPA type subunit 2 [KO:K05198]
2892  GRIA3; glutamate ionotropic receptor AMPA type subunit 3 [KO:K05199]
2893  GRIA4; glutamate ionotropic receptor AMPA type subunit 4 [KO:K05200]
7052  TGM2; transglutaminase 2 [KO:K05625] [EC:]
6507  SLC1A3; solute carrier family 1 member 3 [KO:K05614]
6506  SLC1A2; solute carrier family 1 member 2 [KO:K05613]
3766  KCNJ10; potassium inwardly rectifying channel subfamily J member 10 [KO:K05003]
5978  REST; RE1 silencing transcription factor [KO:K09222]
25942  SIN3A; SIN3 transcription regulator family member A [KO:K11644]
23186  RCOR1; REST corepressor 1 [KO:K11829]
3065  HDAC1; histone deacetylase 1 [KO:K06067] [EC:]
3066  HDAC2; histone deacetylase 2 [KO:K06067] [EC:]
5430  POLR2A; RNA polymerase II subunit A [KO:K03006] [EC:]
5431  POLR2B; RNA polymerase II subunit B [KO:K03010] [EC:]
5432  POLR2C; RNA polymerase II subunit C [KO:K03011]
5433  POLR2D; RNA polymerase II subunit D [KO:K03012]
5434  POLR2E; RNA polymerase II, I and III subunit E [KO:K03013]
5435  POLR2F; RNA polymerase II, I and III subunit F [KO:K03014]
5436  POLR2G; RNA polymerase II subunit G [KO:K03015]
5437  POLR2H; RNA polymerase II, I and III subunit H [KO:K03016]
5438  POLR2I; RNA polymerase II subunit I [KO:K03017]
5441  POLR2L; RNA polymerase II, I and III subunit L [KO:K03007]
5439  POLR2J; RNA polymerase II subunit J [KO:K03008]
548644  POLR2J3; RNA polymerase II subunit J3 [KO:K03008]
246721  POLR2J2; RNA polymerase II subunit J2 [KO:K03008]
5440  POLR2K; RNA polymerase II, I and III subunit K [KO:K03009]
627  BDNF; brain derived neurotrophic factor [KO:K04355]
1387  CREBBP; CREB binding protein [KO:K04498] [EC:]
2033  EP300; E1A binding protein p300 [KO:K04498] [EC:]
6875  TAF4B; TATA-box binding protein associated factor 4b [KO:K03129]
6874  TAF4; TATA-box binding protein associated factor 4 [KO:K03129]
387332  TBPL2; TATA-box binding protein like 2 [KO:K03120]
9519  TBPL1; TATA-box binding protein like 1 [KO:K03120]
6908  TBP; TATA-box binding protein [KO:K03120]
6667  SP1; Sp1 transcription factor [KO:K04684]
1385  CREB1; cAMP responsive element binding protein 1 [KO:K05870]
10488  CREB3; cAMP responsive element binding protein 3 [KO:K09048]
90993  CREB3L1; cAMP responsive element binding protein 3 like 1 [KO:K09048]
64764  CREB3L2; cAMP responsive element binding protein 3 like 2 [KO:K09048]
84699  CREB3L3; cAMP responsive element binding protein 3 like 3 [KO:K09048]
148327  CREB3L4; cAMP responsive element binding protein 3 like 4 [KO:K09048]
9586  CREB5; cAMP responsive element binding protein 5 [KO:K09047]
10891  PPARGC1A; PPARG coactivator 1 alpha [KO:K07202]
5468  PPARG; peroxisome proliferator activated receptor gamma [KO:K08530]
7019  TFAM; transcription factor A, mitochondrial [KO:K11830]
4899  NRF1; nuclear respiratory factor 1 [KO:K11831]
6647  SOD1; superoxide dismutase 1 [KO:K04565] [EC:]
6648  SOD2; superoxide dismutase 2 [KO:K04564] [EC:]
257202  GPX6; glutathione peroxidase 6 [KO:K00432] [EC:]
2882  GPX7; glutathione peroxidase 7 [KO:K00432] [EC:]
2877  GPX2; glutathione peroxidase 2 [KO:K00432] [EC:]
2878  GPX3; glutathione peroxidase 3 [KO:K00432] [EC:]
2876  GPX1; glutathione peroxidase 1 [KO:K00432] [EC:]
2880  GPX5; glutathione peroxidase 5 [KO:K00432] [EC:]
493869  GPX8; glutathione peroxidase 8 (putative) [KO:K00432] [EC:]
7350  UCP1; uncoupling protein 1 [KO:K08769]
7157  TP53; tumor protein p53 [KO:K04451]
581  BAX; BCL2 associated X, apoptosis regulator [KO:K02159]
27113  BBC3; BCL2 binding component 3 [KO:K10132]
4535  ND1; NADH dehydrogenase subunit 1 [KO:K03878] [EC:]
4536  ND2; NADH dehydrogenase subunit 2 [KO:K03879] [EC:]
4537  ND3; NADH dehydrogenase subunit 3 [KO:K03880] [EC:]
4538  ND4; NADH dehydrogenase subunit 4 [KO:K03881] [EC:]
4539  ND4L; NADH dehydrogenase subunit 4L [KO:K03882] [EC:]
4540  ND5; NADH dehydrogenase subunit 5 [KO:K03883] [EC:]
4541  ND6; NADH dehydrogenase subunit 6 [KO:K03884] [EC:]
4723  NDUFV1; NADH:ubiquinone oxidoreductase core subunit V1 [KO:K03942] [EC:]
4729  NDUFV2; NADH:ubiquinone oxidoreductase core subunit V2 [KO:K03943] [EC:]
4731  NDUFV3; NADH:ubiquinone oxidoreductase subunit V3 [KO:K03944]
4694  NDUFA1; NADH:ubiquinone oxidoreductase subunit A1 [KO:K03945]
4695  NDUFA2; NADH:ubiquinone oxidoreductase subunit A2 [KO:K03946]
4696  NDUFA3; NADH:ubiquinone oxidoreductase subunit A3 [KO:K03947]
4697  NDUFA4; NDUFA4 mitochondrial complex associated [KO:K03948]
56901  NDUFA4L2; NDUFA4 mitochondrial complex associated like 2 [KO:K03948]
4698  NDUFA5; NADH:ubiquinone oxidoreductase subunit A5 [KO:K03949]
4700  NDUFA6; NADH:ubiquinone oxidoreductase subunit A6 [KO:K03950]
4701  NDUFA7; NADH:ubiquinone oxidoreductase subunit A7 [KO:K03951]
4702  NDUFA8; NADH:ubiquinone oxidoreductase subunit A8 [KO:K03952]
4704  NDUFA9; NADH:ubiquinone oxidoreductase subunit A9 [KO:K03953]
4705  NDUFA10; NADH:ubiquinone oxidoreductase subunit A10 [KO:K03954]
4706  NDUFAB1; NADH:ubiquinone oxidoreductase subunit AB1 [KO:K03955]
126328  NDUFA11; NADH:ubiquinone oxidoreductase subunit A11 [KO:K03956]
55967  NDUFA12; NADH:ubiquinone oxidoreductase subunit A12 [KO:K11352]
51079  NDUFA13; NADH:ubiquinone oxidoreductase subunit A13 [KO:K11353]
4707  NDUFB1; NADH:ubiquinone oxidoreductase subunit B1 [KO:K03957]
4708  NDUFB2; NADH:ubiquinone oxidoreductase subunit B2 [KO:K03958]
4709  NDUFB3; NADH:ubiquinone oxidoreductase subunit B3 [KO:K03959]
4710  NDUFB4; NADH:ubiquinone oxidoreductase subunit B4 [KO:K03960]
4711  NDUFB5; NADH:ubiquinone oxidoreductase subunit B5 [KO:K03961]
4712  NDUFB6; NADH:ubiquinone oxidoreductase subunit B6 [KO:K03962]
4713  NDUFB7; NADH:ubiquinone oxidoreductase subunit B7 [KO:K03963]
4714  NDUFB8; NADH:ubiquinone oxidoreductase subunit B8 [KO:K03964]
4715  NDUFB9; NADH:ubiquinone oxidoreductase subunit B9 [KO:K03965]
4716  NDUFB10; NADH:ubiquinone oxidoreductase subunit B10 [KO:K03966]
54539  NDUFB11; NADH:ubiquinone oxidoreductase subunit B11 [KO:K11351]
4719  NDUFS1; NADH:ubiquinone oxidoreductase core subunit S1 [KO:K03934] [EC:]
4720  NDUFS2; NADH:ubiquinone oxidoreductase core subunit S2 [KO:K03935] [EC:]
4722  NDUFS3; NADH:ubiquinone oxidoreductase core subunit S3 [KO:K03936] [EC:]
4724  NDUFS4; NADH:ubiquinone oxidoreductase subunit S4 [KO:K03937]
4725  NDUFS5; NADH:ubiquinone oxidoreductase subunit S5 [KO:K03938]
4726  NDUFS6; NADH:ubiquinone oxidoreductase subunit S6 [KO:K03939]
374291  NDUFS7; NADH:ubiquinone oxidoreductase core subunit S7 [KO:K03940] [EC:]
4728  NDUFS8; NADH:ubiquinone oxidoreductase core subunit S8 [KO:K03941] [EC:]
4717  NDUFC1; NADH:ubiquinone oxidoreductase subunit C1 [KO:K03967]
4718  NDUFC2; NADH:ubiquinone oxidoreductase subunit C2 [KO:K03968]
100532726  NDUFC2-KCTD14; NDUFC2-KCTD14 readthrough [KO:K03968]
6389  SDHA; succinate dehydrogenase complex flavoprotein subunit A [KO:K00234] [EC:]
6390  SDHB; succinate dehydrogenase complex iron sulfur subunit B [KO:K00235] [EC:]
6391  SDHC; succinate dehydrogenase complex subunit C [KO:K00236]
6392  SDHD; succinate dehydrogenase complex subunit D [KO:K00237]
7386  UQCRFS1; ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [KO:K00411] [EC:]
4519  CYTB; cytochrome b [KO:K00412]
1537  CYC1; cytochrome c1 [KO:K00413]
7384  UQCRC1; ubiquinol-cytochrome c reductase core protein 1 [KO:K00414]
7385  UQCRC2; ubiquinol-cytochrome c reductase core protein 2 [KO:K00415]
7388  UQCRH; ubiquinol-cytochrome c reductase hinge protein [KO:K00416]
440567  UQCRHL; ubiquinol-cytochrome c reductase hinge protein like [KO:K00416]
7381  UQCRB; ubiquinol-cytochrome c reductase binding protein [KO:K00417]
27089  UQCRQ; ubiquinol-cytochrome c reductase complex III subunit VII [KO:K00418]
29796  UQCR10; ubiquinol-cytochrome c reductase, complex III subunit X [KO:K00419]
10975  UQCR11; ubiquinol-cytochrome c reductase, complex III subunit XI [KO:K00420]
4514  COX3; cytochrome c oxidase subunit III [KO:K02262]
4512  COX1; cytochrome c oxidase subunit I [KO:K02256] [EC:]
4513  COX2; cytochrome c oxidase subunit II [KO:K02261]
84701  COX4I2; cytochrome c oxidase subunit 4I2 [KO:K02263]
1327  COX4I1; cytochrome c oxidase subunit 4I1 [KO:K02263]
9377  COX5A; cytochrome c oxidase subunit 5A [KO:K02264]
1329  COX5B; cytochrome c oxidase subunit 5B [KO:K02265]
1337  COX6A1; cytochrome c oxidase subunit 6A1 [KO:K02266]
1339  COX6A2; cytochrome c oxidase subunit 6A2 [KO:K02266]
1340  COX6B1; cytochrome c oxidase subunit 6B1 [KO:K02267]
125965  COX6B2; cytochrome c oxidase subunit 6B2 [KO:K02267]
1345  COX6C; cytochrome c oxidase subunit 6C [KO:K02268]
1346  COX7A1; cytochrome c oxidase subunit 7A1 [KO:K02270]
1347  COX7A2; cytochrome c oxidase subunit 7A2 [KO:K02270]
9167  COX7A2L; cytochrome c oxidase subunit 7A2 like [KO:K02270]
1349  COX7B; cytochrome c oxidase subunit 7B [KO:K02271]
170712  COX7B2; cytochrome c oxidase subunit 7B2 [KO:K02271]
1350  COX7C; cytochrome c oxidase subunit 7C [KO:K02272]
341947  COX8C; cytochrome c oxidase subunit 8C [KO:K02273]
1351  COX8A; cytochrome c oxidase subunit 8A [KO:K02273]
498  ATP5F1A; ATP synthase F1 subunit alpha [KO:K02132]
506  ATP5F1B; ATP synthase F1 subunit beta [KO:K02133] [EC:]
509  ATP5F1C; ATP synthase F1 subunit gamma [KO:K02136]
513  ATP5F1D; ATP synthase F1 subunit delta [KO:K02134]
514  ATP5F1E; ATP synthase F1 subunit epsilon [KO:K02135]
4508  ATP6; ATP synthase F0 subunit 6 [KO:K02126]
515  ATP5PB; ATP synthase peripheral stalk-membrane subunit b [KO:K02127]
516  ATP5MC1; ATP synthase membrane subunit c locus 1 [KO:K02128]
517  ATP5MC2; ATP synthase membrane subunit c locus 2 [KO:K02128]
518  ATP5MC3; ATP synthase membrane subunit c locus 3 [KO:K02128]
10476  ATP5PD; ATP synthase peripheral stalk subunit d [KO:K02138]
539  ATP5PO; ATP synthase peripheral stalk subunit OSCP [KO:K02137]
522  ATP5PF; ATP synthase peripheral stalk subunit F6 [KO:K02131]
4509  ATP8; ATP synthase F0 subunit 8 [KO:K02125]
7416  VDAC1; voltage dependent anion channel 1 [KO:K05862]
7417  VDAC2; voltage dependent anion channel 2 [KO:K15040]
7419  VDAC3; voltage dependent anion channel 3 [KO:K15041]
291  SLC25A4; solute carrier family 25 member 4 [KO:K05863]
292  SLC25A5; solute carrier family 25 member 5 [KO:K05863]
293  SLC25A6; solute carrier family 25 member 6 [KO:K05863]
83447  SLC25A31; solute carrier family 25 member 31 [KO:K05863]
10105  PPIF; peptidylprolyl isomerase F [KO:K09565] [EC:]
54205  CYCS; cytochrome c, somatic [KO:K08738]
317  APAF1; apoptotic peptidase activating factor 1 [KO:K02084]
842  CASP9; caspase 9 [KO:K04399] [EC:]
5687  PSMA6; proteasome 20S subunit alpha 6 [KO:K02730] [EC:]
5683  PSMA2; proteasome 20S subunit alpha 2 [KO:K02726] [EC:]
5685  PSMA4; proteasome 20S subunit alpha 4 [KO:K02728] [EC:]
5688  PSMA7; proteasome 20S subunit alpha 7 [KO:K02731] [EC:]
143471  PSMA8; proteasome 20S subunit alpha 8 [KO:K02731] [EC:]
5686  PSMA5; proteasome 20S subunit alpha 5 [KO:K02729] [EC:]
5682  PSMA1; proteasome 20S subunit alpha 1 [KO:K02725] [EC:]
5684  PSMA3; proteasome 20S subunit alpha 3 [KO:K02727] [EC:]
5694  PSMB6; proteasome 20S subunit beta 6 [KO:K02738] [EC:]
5695  PSMB7; proteasome 20S subunit beta 7 [KO:K02739] [EC:]
5691  PSMB3; proteasome 20S subunit beta 3 [KO:K02735] [EC:]
5690  PSMB2; proteasome 20S subunit beta 2 [KO:K02734] [EC:]
5693  PSMB5; proteasome 20S subunit beta 5 [KO:K02737] [EC:]
5689  PSMB1; proteasome 20S subunit beta 1 [KO:K02732] [EC:]
5692  PSMB4; proteasome 20S subunit beta 4 [KO:K02736] [EC:]
5701  PSMC2; proteasome 26S subunit, ATPase 2 [KO:K03061]
5700  PSMC1; proteasome 26S subunit, ATPase 1 [KO:K03062]
5704  PSMC4; proteasome 26S subunit, ATPase 4 [KO:K03063]
5706  PSMC6; proteasome 26S subunit, ATPase 6 [KO:K03064]
5702  PSMC3; proteasome 26S subunit, ATPase 3 [KO:K03065]
5705  PSMC5; proteasome 26S subunit, ATPase 5 [KO:K03066]
5708  PSMD2; proteasome 26S subunit ubiquitin receptor, non-ATPase 2 [KO:K03028]
5707  PSMD1; proteasome 26S subunit, non-ATPase 1 [KO:K03032]
5709  PSMD3; proteasome 26S subunit, non-ATPase 3 [KO:K03033]
5715  PSMD9; proteasome 26S subunit, non-ATPase 9 [KO:K06693]
5718  PSMD12; proteasome 26S subunit, non-ATPase 12 [KO:K03035]
5717  PSMD11; proteasome 26S subunit, non-ATPase 11 [KO:K03036]
9861  PSMD6; proteasome 26S subunit, non-ATPase 6 [KO:K03037]
5713  PSMD7; proteasome 26S subunit, non-ATPase 7 [KO:K03038]
5719  PSMD13; proteasome 26S subunit, non-ATPase 13 [KO:K03039]
5710  PSMD4; proteasome 26S subunit ubiquitin receptor, non-ATPase 4 [KO:K03029]
10213  PSMD14; proteasome 26S subunit, non-ATPase 14 [KO:K03030]
5714  PSMD8; proteasome 26S subunit, non-ATPase 8 [KO:K03031]
11047  ADRM1; ADRM1 26S proteasome ubiquitin receptor [KO:K06691]
7979  SEM1; SEM1 26S proteasome subunit [KO:K10881]
4294  MAP3K10; mitogen-activated protein kinase kinase kinase 10 [KO:K04418] [EC:]
2081  ERN1; endoplasmic reticulum to nucleus signaling 1 [KO:K08852] [EC: 3.1.26.-]
7186  TRAF2; TNF receptor associated factor 2 [KO:K03173] [EC:]
4217  MAP3K5; mitogen-activated protein kinase kinase kinase 5 [KO:K04426] [EC:]
5609  MAP2K7; mitogen-activated protein kinase kinase 7 [KO:K04431] [EC:]
2475  MTOR; mechanistic target of rapamycin kinase [KO:K07203] [EC:]
8408  ULK1; unc-51 like autophagy activating kinase 1 [KO:K21357] [EC:]
9706  ULK2; unc-51 like autophagy activating kinase 2 [KO:K08269] [EC:]
60673  ATG101; autophagy related 101 [KO:K19730]
9776  ATG13; autophagy related 13 [KO:K08331]
9821  RB1CC1; RB1 inducible coiled-coil 1 [KO:K17589]
55626  AMBRA1; autophagy and beclin 1 regulator 1 [KO:K17985]
8678  BECN1; beclin 1 [KO:K08334]
441925  BECN2; beclin 2 [KO:K08334]
30849  PIK3R4; phosphoinositide-3-kinase regulatory subunit 4 [KO:K08333] [EC:]
22863  ATG14; autophagy related 14 [KO:K17889]
29982  NRBF2; nuclear receptor binding factor 2 [KO:K21246]
5289  PIK3C3; phosphatidylinositol 3-kinase catalytic subunit type 3 [KO:K00914] [EC:]
23130  ATG2A; autophagy related 2A [KO:K17906]
55102  ATG2B; autophagy related 2B [KO:K17906]
26100  WIPI2; WD repeat domain, phosphoinositide interacting 2 [KO:K17908]
55062  WIPI1; WD repeat domain, phosphoinositide interacting 1 [KO:K17908]
C00025  L-Glutamate
C00076  Calcium cation
C00238  Potassium cation
C01245  D-myo-Inositol 1,4,5-trisphosphate
C01330  Sodium cation
C04549  1-Phosphatidyl-1D-myo-inositol 3-phosphate
Landles C, Bates GP
Huntingtin and the molecular pathogenesis of Huntington's disease. Fourth in molecular medicine review series.
EMBO Rep 5:958-63 (2004)
Borrell-Pages M, Zala D, Humbert S, Saudou F
Huntington's disease: from huntingtin function and dysfunction to therapeutic strategies.
Cell Mol Life Sci 63:2642-60 (2006)
Bossy-Wetzel E, Petrilli A, Knott AB
Mutant huntingtin and mitochondrial dysfunction.
Trends Neurosci 31:609-16 (2008)
Cattaneo E, Zuccato C, Tartari M
Normal huntingtin function: an alternative approach to Huntington's disease.
Nat Rev Neurosci 6:919-30 (2005)
Bezprozvanny I, Hayden MR
Deranged neuronal calcium signaling and Huntington disease.
Biochem Biophys Res Commun 322:1310-7 (2004)
Sawa A, Tomoda T, Bae BI
Mechanisms of neuronal cell death in Huntington's disease.
Cytogenet Genome Res 100:287-95 (2003)
Ross CA.
Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders.
Neuron 35:819-22 (2002)
Ross CA
Huntington's disease: new paths to pathogenesis.
Cell 118:4-7 (2004)
Coffey ET
Nuclear and cytosolic JNK signalling in neurons.
Nat Rev Neurosci 15:285-99 (2014)
Morfini GA, You YM, Pollema SL, Kaminska A, Liu K, Yoshioka K, Bjorkblom B, Coffey ET, Bagnato C, Han D, Huang CF, Banker G, Pigino G, Brady ST
Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin.
Nat Neurosci 12:864-71 (2009)
Kumar P, Kumar D, Jha SK, Jha NK, Ambasta RK
Ion Channels in Neurological Disorders.
Adv Protein Chem Struct Biol 103:97-136 (2016)
Proft J, Weiss N
Rectifying rectifier channels in Huntington disease.
Commun Integr Biol 7:e29410 (2014)
Tang TS, Slow E, Lupu V, Stavrovskaya IG, Sugimori M, Llinas R, Kristal BS, Hayden MR, Bezprozvanny I
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.
Proc Natl Acad Sci U S A 102:2602-7 (2005)
Mackay JP, Nassrallah WB, Raymond LA
Cause or compensation?-Altered neuronal Ca(2+) handling in Huntington's disease.
CNS Neurosci Ther 24:301-310 (2018)
Mattson MP.
Accomplices to neuronal death.
Nature 415:377-9 (2002)
McGill JK, Beal MF
PGC-1alpha, a new therapeutic target in Huntington's disease?
Cell 127:465-8 (2006)
Intihar TA, Martinez EA, Gomez-Pastor R
Mitochondrial Dysfunction in Huntington's Disease; Interplay Between HSF1, p53 and PGC-1alpha Transcription Factors.
Front Cell Neurosci 13:103 (2019)
La Spada AR, Morrison RS
The power of the dark side: Huntington's disease protein and p53 form a deadly alliance.
Neuron 47:1-3 (2005)
Lesort M, Chun W, Tucholski J, Johnson GV
Does tissue transglutaminase play a role in Huntington's disease?
Neurochem Int 40:37-52 (2002)
Bae BI, Xu H, Igarashi S, Fujimuro M, Agrawal N, Taya Y, Hayward SD, Moran TH, Montell C, Ross CA, Snyder SH, Sawa A
p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's disease.
Neuron 47:29-41 (2005)
Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ
Interaction of Huntington disease protein with transcriptional activator Sp1.
Mol Cell Biol 22:1277-87 (2002)
Vidal RL, Matus S, Bargsted L, Hetz C
Targeting autophagy in neurodegenerative diseases.
Trends Pharmacol Sci 35:583-91 (2014)
Shibata M, Lu T, Furuya T, Degterev A, Mizushima N, Yoshimori T, MacDonald M, Yankner B, Yuan J
Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1.
J Biol Chem 281:14474-85 (2006)
hsa00190  Oxidative phosphorylation
hsa03020  RNA polymerase
hsa03022  Basal transcription factors
hsa03050  Proteasome
hsa04020  Calcium signaling pathway
hsa04115  p53 signaling pathway
hsa04140  Autophagy - animal
hsa04141  Protein processing in endoplasmic reticulum
hsa04144  Endocytosis
hsa04210  Apoptosis
hsa04724  Glutamatergic synapse
KO pathway

DBGET integrated database retrieval system