KEGG   PATHWAY: hsa05017
Entry
hsa05017                    Pathway                                

Name
Spinocerebellar ataxia - Homo sapiens (human)
Description
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.
Class
Human Diseases; Neurodegenerative disease
Pathway map
hsa05017  Spinocerebellar ataxia
hsa05017

Network
nt06410  Calcium signaling
nt06411  Potassium transport
nt06413  Autophagy
nt06415  PI3K signaling
nt06440  Transcription
nt06462  Spinocerebellar ataxia
  Element
N00954  Mutation-activated GRM1 to mGluR1-TRPC3 signaling pathway
N00955  Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
N00956  Mutation-activated PRKCG to mGluR1-TRPC3 signaling pathway
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00958  Mutation-activated ITPR1 to mGluR1-TRPC3 signaling pathway
N00959  ITPR1-reduced expression to mGluR1-TRPC3 signaling pathway
N00960  Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
N00961  Mutation-activated TRPC3 to mGluR1-TRPC3 signaling pathway
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00964  DAB1-overexpression to RELN-VLDLR-PI3K signaling pathway
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
N00968  Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
N00969  Mutation-inactivated CACNA1A to VGCC-Ca2- -apoptotic pathway
N00971  Mutation-caused aberrant PDYN to transport of calcium
N00973  Mutation-inactivated KCNC3 to transport of potassium
N00975  Mutation-inactivated KCND3 to transport of potassium
Disease
H00063  Spinocerebellar ataxia (SCA)
H01478  Machado-Joseph disease
H01891  Autosomal recessive spinocerebellar ataxias
Organism
Homo sapiens (human) [GN:hsa]
Gene
7222  TRPC3; transient receptor potential cation channel subfamily C member 3 [KO:K04966]
2911  GRM1; glutamate metabotropic receptor 1 [KO:K04603]
2776  GNAQ; G protein subunit alpha q [KO:K04634]
23236  PLCB1; phospholipase C beta 1 [KO:K05858] [EC:3.1.4.11]
5330  PLCB2; phospholipase C beta 2 [KO:K05858] [EC:3.1.4.11]
5331  PLCB3; phospholipase C beta 3 [KO:K05858] [EC:3.1.4.11]
5332  PLCB4; phospholipase C beta 4 [KO:K05858] [EC:3.1.4.11]
5578  PRKCA; protein kinase C alpha [KO:K02677] [EC:2.7.11.13]
5579  PRKCB; protein kinase C beta [KO:K19662] [EC:2.7.11.13]
5582  PRKCG; protein kinase C gamma [KO:K19663] [EC:2.7.11.13]
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]
773  CACNA1A; calcium voltage-gated channel subunit alpha1 A [KO:K04344]
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958]
3709  ITPR2; inositol 1,4,5-trisphosphate receptor type 2 [KO:K04959]
3710  ITPR3; inositol 1,4,5-trisphosphate receptor type 3 [KO:K04960]
11273  ATXN2L; ataxin 2 like [KO:K23625]
6311  ATXN2; ataxin 2 [KO:K23625]
4287  ATXN3; ataxin 3 [KO:K11863] [EC:3.4.22.-]
92552  ATXN3L; ataxin 3 like [KO:K11863] [EC:3.4.22.-]
6261  RYR1; ryanodine receptor 1 [KO:K04961]
5173  PDYN; prodynorphin [KO:K15840]
2902  GRIN1; glutamate ionotropic receptor NMDA type subunit 1 [KO:K05208]
2903  GRIN2A; glutamate ionotropic receptor NMDA type subunit 2A [KO:K05209]
2904  GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B [KO:K05210]
2905  GRIN2C; glutamate ionotropic receptor NMDA type subunit 2C [KO:K05211]
2906  GRIN2D; glutamate ionotropic receptor NMDA type subunit 2D [KO:K05212]
116443  GRIN3A; glutamate ionotropic receptor NMDA type subunit 3A [KO:K05213]
116444  GRIN3B; glutamate ionotropic receptor NMDA type subunit 3B [KO:K05214]
90550  MCU; mitochondrial calcium uniporter [KO:K20858]
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:5.2.1.8]
54205  CYCS; cytochrome c, somatic [KO:K08738]
10939  AFG3L2; AFG3 like matrix AAA peptidase subunit 2 [KO:K08956] [EC:3.4.24.-]
115209  OMA1; OMA1 zinc metallopeptidase [KO:K23010] [EC:3.4.24.-]
4976  OPA1; OPA1 mitochondrial dynamin like GTPase [KO:K17079] [EC:3.6.5.5]
2259  FGF14; fibroblast growth factor 14 [KO:K23920]
6712  SPTBN2; spectrin beta, non-erythrocytic 2 [KO:K23932]
5687  PSMA6; proteasome 20S subunit alpha 6 [KO:K02730] [EC:3.4.25.1]
5683  PSMA2; proteasome 20S subunit alpha 2 [KO:K02726] [EC:3.4.25.1]
5685  PSMA4; proteasome 20S subunit alpha 4 [KO:K02728] [EC:3.4.25.1]
5688  PSMA7; proteasome 20S subunit alpha 7 [KO:K02731] [EC:3.4.25.1]
143471  PSMA8; proteasome 20S subunit alpha 8 [KO:K02731] [EC:3.4.25.1]
5686  PSMA5; proteasome 20S subunit alpha 5 [KO:K02729] [EC:3.4.25.1]
5682  PSMA1; proteasome 20S subunit alpha 1 [KO:K02725] [EC:3.4.25.1]
5684  PSMA3; proteasome 20S subunit alpha 3 [KO:K02727] [EC:3.4.25.1]
5694  PSMB6; proteasome 20S subunit beta 6 [KO:K02738] [EC:3.4.25.1]
5695  PSMB7; proteasome 20S subunit beta 7 [KO:K02739] [EC:3.4.25.1]
5691  PSMB3; proteasome 20S subunit beta 3 [KO:K02735] [EC:3.4.25.1]
5690  PSMB2; proteasome 20S subunit beta 2 [KO:K02734] [EC:3.4.25.1]
5693  PSMB5; proteasome 20S subunit beta 5 [KO:K02737] [EC:3.4.25.1]
5689  PSMB1; proteasome 20S subunit beta 1 [KO:K02732] [EC:3.4.25.1]
5692  PSMB4; proteasome 20S subunit beta 4 [KO:K02736] [EC:3.4.25.1]
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]
2081  ERN1; endoplasmic reticulum to nucleus signaling 1 [KO:K08852] [EC:2.7.11.1 3.1.26.-]
7186  TRAF2; TNF receptor associated factor 2 [KO:K03173] [EC:2.3.2.27]
4217  MAP3K5; mitogen-activated protein kinase kinase kinase 5 [KO:K04426] [EC:2.7.11.25]
5599  MAPK8; mitogen-activated protein kinase 8 [KO:K04440] [EC:2.7.11.24]
5602  MAPK10; mitogen-activated protein kinase 10 [KO:K04440] [EC:2.7.11.24]
5601  MAPK9; mitogen-activated protein kinase 9 [KO:K04440] [EC:2.7.11.24]
342371  ATXN1L; ataxin 1 like [KO:K23616]
6310  ATXN1; ataxin 1 [KO:K23616]
10524  KAT5; lysine acetyltransferase 5 [KO:K11304] [EC:2.3.1.48]
6095  RORA; RAR related orphan receptor A [KO:K08532]
487  ATP2A1; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [KO:K05853] [EC:7.2.2.10]
489  ATP2A3; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [KO:K05853] [EC:7.2.2.10]
488  ATP2A2; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [KO:K05853] [EC:7.2.2.10]
6511  SLC1A6; solute carrier family 1 member 6 [KO:K05617]
23152  CIC; capicua transcriptional repressor [KO:K20225]
23369  PUM2; pumilio RNA binding family member 2 [KO:K17943]
9698  PUM1; pumilio RNA binding family member 1 [KO:K17943]
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]
11317  RBPJL; recombination signal binding protein for immunoglobulin kappa J region like [KO:K06053]
3516  RBPJ; recombination signal binding protein for immunoglobulin kappa J region [KO:K06053]
6667  SP1; Sp1 transcription factor [KO:K04684]
2959  GTF2B; general transcription factor IIB [KO:K03124]
4800  NFYA; nuclear transcription factor Y subunit alpha [KO:K08064]
7494  XBP1; X-box binding protein 1 [KO:K09027]
4654  MYOD1; myogenic differentiation 1 [KO:K09064]
2475  MTOR; mechanistic target of rapamycin kinase [KO:K07203] [EC:2.7.11.1]
8408  ULK1; unc-51 like autophagy activating kinase 1 [KO:K21357] [EC:2.7.11.1]
9706  ULK2; unc-51 like autophagy activating kinase 2 [KO:K08269] [EC:2.7.11.1]
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:2.7.11.1]
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:2.7.1.137]
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]
3748  KCNC3; potassium voltage-gated channel subfamily C member 3 [KO:K04889]
3752  KCND3; potassium voltage-gated channel subfamily D member 3 [KO:K04893]
5649  RELN; reelin [KO:K06249] [EC:3.4.21.-]
7436  VLDLR; very low density lipoprotein receptor [KO:K20053]
1600  DAB1; DAB adaptor protein 1 [KO:K20054]
5290  PIK3CA; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922] [EC:2.7.1.153]
5293  PIK3CD; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [KO:K00922] [EC:2.7.1.153]
5291  PIK3CB; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta [KO:K00922] [EC:2.7.1.153]
5295  PIK3R1; phosphoinositide-3-kinase regulatory subunit 1 [KO:K02649]
5296  PIK3R2; phosphoinositide-3-kinase regulatory subunit 2 [KO:K02649]
8503  PIK3R3; phosphoinositide-3-kinase regulatory subunit 3 [KO:K02649]
207  AKT1; AKT serine/threonine kinase 1 [KO:K04456] [EC:2.7.11.1]
208  AKT2; AKT serine/threonine kinase 2 [KO:K04456] [EC:2.7.11.1]
10000  AKT3; AKT serine/threonine kinase 3 [KO:K04456] [EC:2.7.11.1]
56652  TWNK; twinkle mtDNA helicase [KO:K17680] [EC:3.6.4.12]
6315  ATXN8OS; ATXN8 opposite strand lncRNA [KO:K23933]
25814  ATXN10; ataxin 10 [KO:K19323]
146227  BEAN1; brain expressed associated with NEDD4 1 [KO:K19324]
10528  NOP56; NOP56 ribonucleoprotein [KO:K14564]
Compound
C00025  L-Glutamate
C00076  Calcium cation
C00165  Diacylglycerol
C00238  Potassium cation
C01245  D-myo-Inositol 1,4,5-trisphosphate
C01330  Sodium cation
C04549  1-Phosphatidyl-1D-myo-inositol 3-phosphate
Reference
  Authors
Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P
  Title
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.
  Journal
Cerebellum 9:148-66 (2010)
DOI:10.1007/s12311-009-0144-2
Reference
  Authors
Duenas AM, Goold R, Giunti P
  Title
Molecular pathogenesis of spinocerebellar ataxias.
  Journal
Brain 129:1357-70 (2006)
DOI:10.1093/brain/awl081
Reference
  Authors
Mark MD, Schwitalla JC, Groemmke M, Herlitze S
  Title
Keeping Our Calcium in Balance to Maintain Our Balance.
  Journal
Biochem Biophys Res Commun 483:1040-1050 (2017)
DOI:10.1016/j.bbrc.2016.07.020
Reference
  Authors
Egorova PA, Bezprozvanny IB
  Title
Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.
  Journal
FEBS J 285:3547-3565 (2018)
DOI:10.1111/febs.14366
Reference
  Authors
Shimobayashi E, Kapfhammer JP
  Title
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
  Journal
Curr Neuropharmacol 16:151-159 (2018)
DOI:10.2174/1570159X15666170529104000
Reference
  Authors
Kasumu A, Bezprozvanny I
  Title
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
  Journal
Cerebellum 11:630-9 (2012)
DOI:10.1007/s12311-010-0182-9
Reference
  Authors
Egorova P, Popugaeva E, Bezprozvanny I
  Title
Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease.
  Journal
Semin Cell Dev Biol 40:127-33 (2015)
DOI:10.1016/j.semcdb.2015.03.010
Reference
  Authors
Hisatsune C, Hamada K, Mikoshiba K
  Title
Ca(2+) signaling and spinocerebellar ataxia.
  Journal
Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018)
DOI:10.1016/j.bbamcr.2018.05.009
Reference
  Authors
Takada SH, Ikebara JM, de Sousa E, Cardoso DS, Resende RR, Ulrich H, Ruckl M, Rudiger S, Kihara AH
  Title
Determining the Roles of Inositol Trisphosphate Receptors in Neurodegeneration: Interdisciplinary Perspectives on a Complex Topic.
  Journal
Mol Neurobiol 54:6870-6884 (2017)
DOI:10.1007/s12035-016-0205-8
Reference
  Authors
Brown SA, Loew LM
  Title
Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia.
  Journal
Front Neurosci 8:453 (2014)
DOI:10.3389/fnins.2014.00453
Reference
  Authors
Inoue T
  Title
Dynamics of calcium and its roles in the dendrite of the cerebellar Purkinje cell.
  Journal
Keio J Med 52:244-9 (2003)
DOI:10.2302/kjm.52.244
Reference
  Authors
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N
  Title
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
  Journal
J Biol Chem 283:19854-63 (2008)
DOI:10.1074/jbc.M801492200
Reference
  Authors
Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS
  Title
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.
  Journal
Brain 138:2537-52 (2015)
DOI:10.1093/brain/awv195
Reference
  Authors
Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F
  Title
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
  Journal
J Med Genet 56:499-511 (2019)
DOI:10.1136/jmedgenet-2018-105766
Reference
  Authors
Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolo V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F
  Title
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
  Journal
Neurobiol Dis 124:14-28 (2019)
DOI:10.1016/j.nbd.2018.10.018
Reference
  Authors
Becker EBE
  Title
From Mice to Men: TRPC3 in Cerebellar Ataxia.
  Journal
Cerebellum 16:877-879 (2017)
DOI:10.1007/s12311-015-0663-y
Reference
  Authors
Hoxha E, Tempia F, Lippiello P, Miniaci MC
  Title
Modulation, Plasticity and Pathophysiology of the Parallel Fiber-Purkinje Cell Synapse.
  Journal
Front Synaptic Neurosci 8:35 (2016)
DOI:10.3389/fnsyn.2016.00035
Reference
  Authors
Yan H, Pablo JL, Pitt GS
  Title
FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.
  Journal
Cell Rep 4:66-75 (2013)
DOI:10.1016/j.celrep.2013.06.012
Reference
  Authors
Tada M, Nishizawa M, Onodera O
  Title
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
  Journal
Neurochem Int 94:1-8 (2016)
DOI:10.1016/j.neuint.2016.01.007
Reference
  Authors
Pietrobon D
  Title
CaV2.1 channelopathies.
  Journal
Pflugers Arch 460:375-93 (2010)
DOI:10.1007/s00424-010-0802-8
Reference
  Authors
Matsuyama Z, Yanagisawa NK, Aoki Y, Black JL 3rd, Lennon VA, Mori Y, Imoto K, Inuzuka T
  Title
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.
  Journal
Neurobiol Dis 17:198-204 (2004)
DOI:10.1016/j.nbd.2004.07.013
Reference
  Authors
Nishitoh H, Matsuzawa A, Tobiume K, Saegusa K, Takeda K, Inoue K, Hori S, Kakizuka A, Ichijo H
  Title
ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats.
  Journal
Genes Dev 16:1345-55 (2002)
DOI:10.1101/gad.992302
Reference
  Authors
Evers MM, Toonen LJ, van Roon-Mom WM
  Title
Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.
  Journal
Mol Neurobiol 49:1513-31 (2014)
DOI:10.1007/s12035-013-8596-2
Reference
  Authors
Ashkenazi A, Bento CF, Ricketts T, Vicinanza M, Siddiqi F, Pavel M, Squitieri F, Hardenberg MC, Imarisio S, Menzies FM, Rubinsztein DC
  Title
Polyglutamine tracts regulate autophagy.
  Journal
Autophagy 13:1613-1614 (2017)
DOI:10.1080/15548627.2017.1336278
Reference
  Authors
Chen RH, Chen YH, Huang TY
  Title
Ubiquitin-mediated regulation of autophagy.
  Journal
J Biomed Sci 26:80 (2019)
DOI:10.1186/s12929-019-0569-y
Reference
  Authors
Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT
  Title
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.
  Journal
Cell 127:697-708 (2006)
DOI:10.1016/j.cell.2006.09.036
Reference
  Authors
Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajic A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT
  Title
ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.
  Journal
Neuron 97:1235-1243.e5 (2018)
DOI:10.1016/j.neuron.2018.02.013
Reference
  Authors
Jimenez G, Shvartsman SY, Paroush Z
  Title
The Capicua repressor--a general sensor of RTK signaling in development and disease.
  Journal
J Cell Sci 125:1383-91 (2012)
DOI:10.1242/jcs.092965
Reference
  Authors
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY
  Title
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
  Journal
Cell 172:924-936.e11 (2018)
DOI:10.1016/j.cell.2018.02.006
Reference
  Authors
Irie T, Matsuzaki Y, Sekino Y, Hirai H
  Title
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.
  Journal
J Physiol 592:229-47 (2014)
DOI:10.1113/jphysiol.2013.264309
Reference
  Authors
Bushart DD, Murphy GG, Shakkottai VG
  Title
Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease.
  Journal
Ann Transl Med 4:25 (2016)
DOI:10.3978/j.issn.2305-5839.2016.01.06
Reference
  Authors
Hsiao CT, Fu SJ, Liu YT, Lu YH, Zhong CY, Tang CY, Soong BW, Jeng CJ
  Title
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.
  Journal
Hum Mutat 40:2088-2107 (2019)
DOI:10.1002/humu.23865
Reference
  Authors
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS
  Title
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
  Journal
Cell Mol Life Sci 72:3387-99 (2015)
DOI:10.1007/s00018-015-1894-2
Reference
  Authors
Matilla-Duenas A, Volpini V
  Title
Spinocerebellar Ataxia Type 37
  Journal
GeneReviews (1993)
Reference
  Authors
Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Mendez-Del-Barrio C, Jesus S, Mir P, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A
  Title
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
  Journal
Brain 141:1981-1997 (2018)
DOI:10.1093/brain/awy137
Reference
  Authors
Swinnen B, Robberecht W, Van Den Bosch L
  Title
RNA toxicity in non-coding repeat expansion disorders.
  Journal
EMBO J e101112 (2019)
DOI:10.15252/embj.2018101112
Reference
  Authors
Ishikawa K, Nagai Y
  Title
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).
  Journal
Neurotherapeutics 10.1007/s13311-019-00804-6 (2019)
DOI:10.1007/s13311-019-00804-6
Reference
  Authors
Niimi Y, Takahashi M, Sugawara E, Umeda S, Obayashi M, Sato N, Ishiguro T, Higashi M, Eishi Y, Mizusawa H, Ishikawa K
  Title
Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
  Journal
Neuropathology 33:600-11 (2013)
DOI:10.1111/neup.12032
Reference
  Authors
Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
  Title
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
  Journal
Am J Hum Genet 89:121-30 (2011)
DOI:10.1016/j.ajhg.2011.05.015
Related
pathway
hsa03050  Proteasome
hsa04020  Calcium signaling pathway
hsa04140  Autophagy - animal
hsa04141  Protein processing in endoplasmic reticulum
hsa04210  Apoptosis
hsa04724  Glutamatergic synapse
hsa04730  Long-term depression
KO pathway
ko05017   
LinkDB

DBGET integrated database retrieval system