KEGG   PATHWAY: pteh05017
Entry
pteh05017                   Pathway                                
Name
Spinocerebellar ataxia - Piliocolobus tephrosceles (Ugandan red Colobus)
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
pteh05017  Spinocerebellar ataxia
pteh05017

Organism
Piliocolobus tephrosceles (Ugandan red Colobus) [GN:pteh]
Gene
111546232  TRPC3; short transient receptor potential channel 3 isoform X1 [KO:K04966]
111528139  GRM1; metabotropic glutamate receptor 1 isoform X1 [KO:K04603]
111543374  guanine nucleotide-binding protein G(q) subunit alpha [KO:K04634]
111546451  PLCB4; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 [KO:K05858] [EC:3.1.4.11]
111522292  PLCB3; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 [KO:K05858] [EC:3.1.4.11]
111524236  PLCB2; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X1 [KO:K05858] [EC:3.1.4.11]
111546452  PLCB1; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform X1 [KO:K05858] [EC:3.1.4.11]
111542503  PRKCA; protein kinase C alpha type isoform X1 [KO:K02677] [EC:2.7.11.13]
111524197  PRKCB; protein kinase C beta type isoform X1 [KO:K19662] [EC:2.7.11.13]
111530493  PRKCG; protein kinase C gamma type isoform X1 [KO:K19663] [EC:2.7.11.13]
111552681  GRIA1; glutamate receptor 1 [KO:K05197]
111553388  GRIA2; glutamate receptor 2 isoform X2 [KO:K05198]
111536046  GRIA3; glutamate receptor 3 isoform X1 [KO:K05199]
111523866  CACNA1A; voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform X1 [KO:K04344]
111546970  ITPR1; inositol 1,4,5-trisphosphate receptor type 1 isoform X1 [KO:K04958]
111540617  ITPR2; inositol 1,4,5-trisphosphate receptor type 2 isoform X1 [KO:K04959]
111543148  ITPR3; inositol 1,4,5-trisphosphate receptor type 3 [KO:K04960]
111536875  ATXN2; ataxin-2 isoform X1 [KO:K23625]
111526928  ATXN2L; ataxin-2-like protein isoform X1 [KO:K23625]
111531669  ATXN3L; ataxin-3-like protein [KO:K11863] [EC:3.4.22.-]
111538229  ATXN3; ataxin-3 isoform X1 [KO:K11863] [EC:3.4.22.-]
111554005  RYR1; ryanodine receptor 1 isoform X1 [KO:K04961]
111548215  PDYN; proenkephalin-B [KO:K15840]
111553102  GRIN1; glutamate receptor ionotropic, NMDA 1 isoform X1 [KO:K05208]
111551718  GRIN2A; glutamate receptor ionotropic, NMDA 2A isoform X1 [KO:K05209]
111552106  GRIN2B; glutamate receptor ionotropic, NMDA 2B [KO:K05210]
111542444  GRIN2C; glutamate receptor ionotropic, NMDA 2C [KO:K05211]
111520094  GRIN2D; glutamate receptor ionotropic, NMDA 2D [KO:K05212]
111536207  GRIN3A; glutamate receptor ionotropic, NMDA 3A [KO:K05213]
111526784  GRIN3B; glutamate receptor ionotropic, NMDA 3B [KO:K05214]
111537868  MCU; calcium uniporter protein, mitochondrial [KO:K20858]
111529272  VDAC1; voltage-dependent anion-selective channel protein 1 [KO:K05862]
111537825  VDAC2; voltage-dependent anion-selective channel protein 2 isoform X1 [KO:K15040]
111544092  VDAC3; voltage-dependent anion-selective channel protein 3 isoform X1 [KO:K15041]
111531447  SLC25A5; ADP/ATP translocase 2 [KO:K05863]
113225207  ADP/ATP translocase 3-like [KO:K05863]
111546286  SLC25A31; ADP/ATP translocase 4 isoform X1 [KO:K05863]
113219721  ADP/ATP translocase 3 [KO:K05863]
113219722  ADP/ATP translocase 3-like [KO:K05863]
111548487  SLC25A4; ADP/ATP translocase 1 [KO:K05863]
113220622  ADP/ATP translocase 3-like [KO:K05863]
111537803  PPIF; peptidyl-prolyl cis-trans isomerase F, mitochondrial [KO:K09565] [EC:5.2.1.8]
111528103  cytochrome c-like [KO:K08738]
111541425  cytochrome c [KO:K08738]
111551227  cytochrome c-like [KO:K08738]
111551298  cytochrome c-like [KO:K08738]
111551797  cytochrome c [KO:K08738]
111551867  cytochrome c [KO:K08738]
111543337  cytochrome c-like [KO:K08738]
111543628  cytochrome c-like [KO:K08738]
111534452  cytochrome c-like [KO:K08738]
111545049  cytochrome c-like [KO:K08738]
111555014  cytochrome c-like [KO:K08738]
111524229  cytochrome c [KO:K08738]
111525268  cytochrome c-like [KO:K08738]
111539464  cytochrome c-like [KO:K08738]
111526887  cytochrome c-like [KO:K08738]
111540111  cytochrome c-like [KO:K08738]
111553550  AFG3L2; AFG3-like protein 2 isoform X1 [KO:K08956] [EC:3.4.24.-]
111553857  LOW QUALITY PROTEIN: AFG3-like protein 1 [KO:K08956] [EC:3.4.24.-]
111523184  OMA1; metalloendopeptidase OMA1, mitochondrial isoform X1 [KO:K23010] [EC:3.4.24.-]
111544298  OPA1; dynamin-like 120 kDa protein, mitochondrial isoform X1 [KO:K17079] [EC:3.6.5.5]
111546551  FGF14; fibroblast growth factor 14 isoform X1 [KO:K23920]
111522222  SPTBN2; spectrin beta chain, non-erythrocytic 2 [KO:K23932]
111520434  proteasome subunit alpha type-6 [KO:K02730] [EC:3.4.25.1]
111524462  PSMA6; proteasome subunit alpha type-6 [KO:K02730] [EC:3.4.25.1]
111552257  PSMA2; proteasome subunit alpha type-2 [KO:K02726] [EC:3.4.25.1]
111528843  PSMA4; proteasome subunit alpha type-4 [KO:K02728] [EC:3.4.25.1]
111520532  PSMA7; proteasome subunit alpha type-7 [KO:K02731] [EC:3.4.25.1]
111539619  PSMA8; proteasome subunit alpha-type 8 isoform X1 [KO:K02731] [EC:3.4.25.1]
111556019  PSMA5; proteasome subunit alpha type-5 isoform X1 [KO:K02729] [EC:3.4.25.1]
111555087  PSMA1; proteasome subunit alpha type-1 isoform X1 [KO:K02725] [EC:3.4.25.1]
111555374  PSMA3; proteasome subunit alpha type-3 [KO:K02727] [EC:3.4.25.1]
111521313  PSMB6; proteasome subunit beta type-6 isoform X1 [KO:K02738] [EC:3.4.25.1]
111545945  PSMB7; proteasome subunit beta type-7 [KO:K02739] [EC:3.4.25.1]
111537492  PSMB3; proteasome subunit beta type-3 [KO:K02735] [EC:3.4.25.1]
111555851  PSMB2; proteasome subunit beta type-2 [KO:K02734] [EC:3.4.25.1]
111554779  PSMB5; proteasome subunit beta type-5 isoform X1 [KO:K02737] [EC:3.4.25.1]
111530909  PSMB1; proteasome subunit beta type-1 [KO:K02732] [EC:3.4.25.1]
111543652  PSMB4; proteasome subunit beta type-4 [KO:K02736] [EC:3.4.25.1]
111526707  PSMC2; 26S proteasome regulatory subunit 7 [KO:K03061]
111538209  PSMC1; 26S proteasome regulatory subunit 4 isoform X1 [KO:K03062]
111554053  PSMC4; 26S proteasome regulatory subunit 6B [KO:K03063]
111520792  26S proteasome regulatory subunit 10B-like [KO:K03064]
111549444  PSMC6; 26S proteasome regulatory subunit 10B isoform X1 [KO:K03064]
111544887  26S proteasome regulatory subunit 6A [KO:K03065]
111527608  PSMC5; 26S proteasome regulatory subunit 8 isoform X1 [KO:K03066]
111523157  PSMD2; 26S proteasome non-ATPase regulatory subunit 2 [KO:K03028]
111527536  PSMD1; 26S proteasome non-ATPase regulatory subunit 1 isoform X1 [KO:K03032]
111537460  PSMD3; 26S proteasome non-ATPase regulatory subunit 3 [KO:K03033]
111538059  PSMD9; 26S proteasome non-ATPase regulatory subunit 9 isoform X1 [KO:K06693]
111542501  PSMD12; 26S proteasome non-ATPase regulatory subunit 12 [KO:K03035]
111520260  PSMD11; 26S proteasome non-ATPase regulatory subunit 11 [KO:K03036]
111533818  PSMD6; 26S proteasome non-ATPase regulatory subunit 6 isoform X1 [KO:K03037]
111541415  PSMD7; 26S proteasome non-ATPase regulatory subunit 7 [KO:K03038]
111520567  PSMD13; 26S proteasome non-ATPase regulatory subunit 13 isoform X1 [KO:K03039]
111543645  PSMD4; 26S proteasome non-ATPase regulatory subunit 4 isoform X1 [KO:K03029]
111546075  PSMD14; 26S proteasome non-ATPase regulatory subunit 14 [KO:K03030]
111554023  PSMD8; 26S proteasome non-ATPase regulatory subunit 8 [KO:K03031]
111520460  ADRM1; proteasomal ubiquitin receptor ADRM1 [KO:K06691]
111535567  LOW QUALITY PROTEIN: proteasomal ubiquitin receptor ADRM1-like [KO:K06691]
111551074  SEM1; 26S proteasome complex subunit SEM1 isoform X2 [KO:K10881]
111542532  ERN1; serine/threonine-protein kinase/endoribonuclease IRE1 isoform X1 [KO:K08852] [EC:2.7.11.1 3.1.26.-]
111553030  TRAF2; TNF receptor-associated factor 2 isoform X1 [KO:K03173] [EC:2.3.2.27]
111525521  MAP3K5; mitogen-activated protein kinase kinase kinase 5 isoform X1 [KO:K04426] [EC:2.7.11.25]
111530867  MAPK10; mitogen-activated protein kinase 10 isoform X1 [KO:K04440] [EC:2.7.11.24]
111535725  MAPK9; mitogen-activated protein kinase 9 isoform X1 [KO:K04440] [EC:2.7.11.24]
111554538  MAPK8; mitogen-activated protein kinase 8 isoform X1 [KO:K04440] [EC:2.7.11.24]
111541131  ATXN1; ataxin-1 [KO:K23616]
111541428  ATXN1L; ataxin-1-like [KO:K23616]
111522269  KAT5; histone acetyltransferase KAT5 isoform X1 [KO:K11304] [EC:2.3.1.48]
111553662  RORA; nuclear receptor ROR-alpha isoform X1 [KO:K08532]
111526935  ATP2A1; sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X1 [KO:K05853] [EC:7.2.2.10]
111535997  ATP2A2; sarcoplasmic/endoplasmic reticulum calcium ATPase 2 [KO:K05853] [EC:7.2.2.10]
111521323  ATP2A3; sarcoplasmic/endoplasmic reticulum calcium ATPase 3 [KO:K05853] [EC:7.2.2.10]
111554360  SLC1A6; excitatory amino acid transporter 4 isoform X1 [KO:K05617]
111554014  CIC; protein capicua homolog isoform X1 [KO:K20225]
111554493  PUM2; pumilio homolog 2 isoform X1 [KO:K17943]
111547585  PUM1; pumilio homolog 1 isoform X1 [KO:K17943]
111530912  TBP; TATA-box-binding protein [KO:K03120]
111554913  TBPL1; TATA box-binding protein-like protein 1 [KO:K03120]
111555251  TBPL2; TATA box-binding protein-like protein 2 [KO:K03120]
113219544  RBPJ; recombining binding protein suppressor of hairless [KO:K06053]
111553280  RBPJL; recombining binding protein suppressor of hairless-like protein isoform X1 [KO:K06053]
111541933  transcription factor Sp1 isoform X1 [KO:K04684]
111540086  GTF2B; transcription initiation factor IIB isoform X1 [KO:K03124]
111543018  NFYA; nuclear transcription factor Y subunit alpha isoform X1 [KO:K08064]
111525377  XBP1; LOW QUALITY PROTEIN: X-box-binding protein 1 [KO:K09027]
111555072  MYOD1; myoblast determination protein 1 isoform X2 [KO:K09064]
111526309  MTOR; serine/threonine-protein kinase mTOR isoform X1 [KO:K07203] [EC:2.7.11.1]
111529825  ULK1; serine/threonine-protein kinase ULK1 [KO:K21357] [EC:2.7.11.1]
111527821  ULK2; serine/threonine-protein kinase ULK2 isoform X1 [KO:K08269] [EC:2.7.11.1]
111541978  ATG101; autophagy-related protein 101 [KO:K19730]
111544906  ATG13; autophagy-related protein 13 isoform X1 [KO:K08331]
111521071  RB1CC1; RB1-inducible coiled-coil protein 1 isoform X1 [KO:K17589]
111544908  AMBRA1; activating molecule in BECN1-regulated autophagy protein 1 isoform X1 [KO:K17985]
111545301  BECN2; beclin-2 [KO:K08334]
111537346  BECN1; beclin-1 isoform X1 [KO:K08334]
111539511  PIK3R4; phosphoinositide 3-kinase regulatory subunit 4 isoform X1 [KO:K08333] [EC:2.7.11.1]
111555244  ATG14; beclin 1-associated autophagy-related key regulator [KO:K17889]
111537958  NRBF2; nuclear receptor-binding factor 2 isoform X1 [KO:K21246]
111539704  PIK3C3; phosphatidylinositol 3-kinase catalytic subunit type 3 isoform X1 [KO:K00914] [EC:2.7.1.137]
111522321  ATG2A; autophagy-related protein 2 homolog A isoform X1 [KO:K17906]
111538276  ATG2B; autophagy-related protein 2 homolog B isoform X1 [KO:K17906]
111530604  WIPI2; WD repeat domain phosphoinositide-interacting protein 2 isoform X1 [KO:K17908]
111542492  WIPI1; WD repeat domain phosphoinositide-interacting protein 1 isoform X1 [KO:K17908]
111520046  KCNC3; potassium voltage-gated channel subfamily C member 3 [KO:K04889]
111556023  KCND3; potassium voltage-gated channel subfamily D member 3 isoform X1 [KO:K04893]
111526701  RELN; reelin isoform X1 [KO:K06249] [EC:3.4.21.-]
111543319  VLDLR; very low-density lipoprotein receptor isoform X1 [KO:K20053]
111523223  DAB1; disabled homolog 1 isoform X2 [KO:K20054]
111521403  PIK3CA; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [KO:K00922] [EC:2.7.1.153]
111544647  PIK3CD; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1 [KO:K00922] [EC:2.7.1.153]
111523340  PIK3CB; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform [KO:K00922] [EC:2.7.1.153]
111554247  PIK3R2; phosphatidylinositol 3-kinase regulatory subunit beta [KO:K02649]
111539891  PIK3R1; phosphatidylinositol 3-kinase regulatory subunit alpha isoform X1 [KO:K02649]
111548774  PIK3R3; phosphatidylinositol 3-kinase regulatory subunit gamma [KO:K02649]
111554120  AKT2; RAC-beta serine/threonine-protein kinase isoform X1 [KO:K04456] [EC:2.7.11.1]
111545216  AKT3; RAC-gamma serine/threonine-protein kinase isoform X1 [KO:K04456] [EC:2.7.11.1]
111538340  AKT1; RAC-alpha serine/threonine-protein kinase [KO:K04456] [EC:2.7.11.1]
111538814  TWNK; twinkle protein, mitochondrial isoform X1 [KO:K17680] [EC:5.6.2.3]
111548905  ATXN10; ataxin-10 isoform X1 [KO:K19323]
111548087  NOP56; nucleolar protein 56 [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
pteh03050  Proteasome
pteh04020  Calcium signaling pathway
pteh04140  Autophagy - animal
pteh04141  Protein processing in endoplasmic reticulum
pteh04210  Apoptosis
pteh04724  Glutamatergic synapse
pteh04730  Long-term depression
KO pathway
ko05017   
LinkDB

DBGET integrated database retrieval system