KEGG   PATHWAY: uah05017
Entry
uah05017                    Pathway                                
Name
Spinocerebellar ataxia - Ursus arctos (brown bear)
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
uah05017  Spinocerebellar ataxia
uah05017

Organism
Ursus arctos (brown bear) [GN:uah]
Gene
113255631  TRPC3; short transient receptor potential channel 3 isoform X3 [KO:K04966]
113259527  GRM1; metabotropic glutamate receptor 1 isoform X1 [KO:K04603]
113269831  GNAQ; guanine nucleotide-binding protein G(q) subunit alpha [KO:K04634]
113244175  PLCB3; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 [KO:K05858] [EC:3.1.4.11]
113258346  PLCB4; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 [KO:K05858] [EC:3.1.4.11]
113242038  PLCB2; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X1 [KO:K05858] [EC:3.1.4.11]
113258243  PLCB1; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform X1 [KO:K05858] [EC:3.1.4.11]
113265250  PRKCA; protein kinase C alpha type isoform X2 [KO:K02677] [EC:2.7.11.13]
113267584  PRKCB; protein kinase C beta type isoform X1 [KO:K19662] [EC:2.7.11.13]
113247385  PRKCG; protein kinase C gamma type [KO:K19663] [EC:2.7.11.13]
113263993  GRIA1; glutamate receptor 1 isoform X1 [KO:K05197]
113255793  GRIA2; glutamate receptor 2 isoform X1 [KO:K05198]
113270923  GRIA3; glutamate receptor 3 isoform X1 [KO:K05199]
113247199  CACNA1A; voltage-dependent P/Q-type calcium channel subunit alpha-1A [KO:K04344]
113257114  ITPR1; inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958]
113257782  ITPR2; inositol 1,4,5-trisphosphate receptor type 2 isoform X1 [KO:K04959]
113243814  ITPR3; inositol 1,4,5-trisphosphate receptor type 3 isoform X1 [KO:K04960]
113266967  ATXN2; ataxin-2 isoform X1 [KO:K23625]
113267629  ATXN2L; ataxin-2-like protein isoform X1 [KO:K23625]
113267348  ATXN3; ataxin-3 isoform X3 [KO:K11863] [EC:3.4.22.-]
113243259  RYR1; ryanodine receptor 1 [KO:K04961]
113258418  PDYN; proenkephalin-B [KO:K15840]
113248424  GRIN1; glutamate receptor ionotropic, NMDA 1 isoform X3 [KO:K05208]
113270811  GRIN2A; glutamate receptor ionotropic, NMDA 2A [KO:K05209]
113257861  GRIN2B; glutamate receptor ionotropic, NMDA 2B [KO:K05210]
113244660  GRIN2C; LOW QUALITY PROTEIN: glutamate receptor ionotropic, NMDA 2C [KO:K05211]
113243350  GRIN2D; glutamate receptor ionotropic, NMDA 2D [KO:K05212]
113260377  GRIN3A; glutamate receptor ionotropic, NMDA 3A isoform X1 [KO:K05213]
113242713  GRIN3B; glutamate receptor ionotropic, NMDA 3B [KO:K05214]
113259163  MCU; calcium uniporter protein, mitochondrial isoform X1 [KO:K20858]
113261734  VDAC1; voltage-dependent anion-selective channel protein 1 [KO:K05862]
113259206  VDAC2; voltage-dependent anion-selective channel protein 2 [KO:K15040]
113245581  VDAC3; voltage-dependent anion-selective channel protein 3 [KO:K15041]
113262270  SLC25A4; ADP/ATP translocase 1 [KO:K05863]
113240791  ADP/ATP translocase 3 [KO:K05863]
113241271  SLC25A5; ADP/ATP translocase 2 [KO:K05863]
113255470  SLC25A31; ADP/ATP translocase 4 [KO:K05863]
130544378  ADP/ATP translocase 3 [KO:K05863]
113259219  PPIF; peptidyl-prolyl cis-trans isomerase F, mitochondrial isoform X1 [KO:K09565] [EC:5.2.1.8]
113261698  cytochrome c [KO:K08738]
113263367  cytochrome c-like [KO:K08738]
113245913  AFG3L2; AFG3-like protein 2 [KO:K08956] [EC:3.4.24.-]
113254614  OMA1; metalloendopeptidase OMA1, mitochondrial isoform X1 [KO:K23010] [EC:3.4.24.-]
113253461  OPA1; dynamin-like 120 kDa protein, mitochondrial isoform X1 [KO:K17079] [EC:3.6.5.5]
113251512  FGF14; fibroblast growth factor 14 [KO:K23920]
113244052  SPTBN2; spectrin beta chain, non-erythrocytic 2 isoform X3 [KO:K23932]
113266129  PSMA6; proteasome subunit alpha type-6 [KO:K02730] [EC:3.4.25.1]
113258057  PSMA2; proteasome subunit alpha type-2 [KO:K02726] [EC:3.4.25.1]
113263804  PSMA4; proteasome subunit alpha type-4 [KO:K02728] [EC:3.4.25.1]
113253189  PSMA8; proteasome subunit alpha-type 8 [KO:K02731] [EC:3.4.25.1]
113258786  PSMA7; proteasome subunit alpha type-7 [KO:K02731] [EC:3.4.25.1]
113244929  PSMA5; proteasome subunit alpha type-5 isoform X1 [KO:K02729] [EC:3.4.25.1]
113246264  PSMA1; proteasome subunit alpha type-1 isoform X1 [KO:K02725] [EC:3.4.25.1]
113242322  PSMA3; proteasome subunit alpha type-3 isoform X2 [KO:K02727] [EC:3.4.25.1]
113271086  PSMB6; proteasome subunit beta type-6 [KO:K02738] [EC:3.4.25.1]
113266397  PSMB7; proteasome subunit beta type-7 [KO:K02739] [EC:3.4.25.1]
113265544  PSMB3; proteasome subunit beta type-3 [KO:K02735] [EC:3.4.25.1]
113268305  PSMB2; proteasome subunit beta type-2 isoform X2 [KO:K02734] [EC:3.4.25.1]
113246085  PSMB5; proteasome subunit beta type-5 [KO:K02737] [EC:3.4.25.1]
113247110  PSMB1; proteasome subunit beta type-1 [KO:K02732] [EC:3.4.25.1]
113241205  proteasome subunit beta type-1-like [KO:K02732] [EC:3.4.25.1]
113246116  PSMB4; proteasome subunit beta type-4 [KO:K02736] [EC:3.4.25.1]
113258947  PSMC2; 26S proteasome regulatory subunit 7 [KO:K03061]
113267368  PSMC1; 26S proteasome regulatory subunit 4 [KO:K03062]
113243578  PSMC4; 26S proteasome regulatory subunit 6B [KO:K03063]
113242371  PSMC6; 26S proteasome regulatory subunit 10B [KO:K03064]
113264959  PSMC3; 26S proteasome regulatory subunit 6A isoform X2 [KO:K03065]
113265286  PSMC5; 26S proteasome regulatory subunit 8 isoform X1 [KO:K03066]
113254324  PSMD2; 26S proteasome non-ATPase regulatory subunit 2 [KO:K03028]
113250358  PSMD1; 26S proteasome non-ATPase regulatory subunit 1 isoform X1 [KO:K03032]
113265502  PSMD3; 26S proteasome non-ATPase regulatory subunit 3 isoform X2 [KO:K03033]
113266933  PSMD9; 26S proteasome non-ATPase regulatory subunit 9 [KO:K06693]
113265256  PSMD12; 26S proteasome non-ATPase regulatory subunit 12 [KO:K03035]
113268987  PSMD11; 26S proteasome non-ATPase regulatory subunit 11 isoform X1 [KO:K03036]
113257041  PSMD6; 26S proteasome non-ATPase regulatory subunit 6 [KO:K03037]
113247228  LOW QUALITY PROTEIN: 26S proteasome non-ATPase regulatory subunit 6-like [KO:K03037]
113252438  PSMD7; 26S proteasome non-ATPase regulatory subunit 7 [KO:K03038]
113248771  PSMD13; 26S proteasome non-ATPase regulatory subunit 13 isoform X1 [KO:K03039]
113246142  PSMD4; 26S proteasome non-ATPase regulatory subunit 4 isoform X2 [KO:K03029]
113250841  PSMD14; 26S proteasome non-ATPase regulatory subunit 14 [KO:K03030]
113243618  PSMD8; 26S proteasome non-ATPase regulatory subunit 8 [KO:K03031]
113261105  26S proteasome complex subunit SEM1 [KO:K10881]
113260424  SEM1; 26S proteasome complex subunit SEM1 [KO:K10881]
113265667  ERN1; serine/threonine-protein kinase/endoribonuclease IRE1 isoform X1 [KO:K08852] [EC:2.7.11.1 3.1.26.-]
113248645  TRAF2; TNF receptor-associated factor 2 isoform X3 [KO:K03173] [EC:2.3.2.27]
113259481  MAP3K5; mitogen-activated protein kinase kinase kinase 5 [KO:K04426] [EC:2.7.11.25]
113263180  MAPK10; mitogen-activated protein kinase 10 isoform X1 [KO:K04440] [EC:2.7.11.24]
113261548  MAPK9; mitogen-activated protein kinase 9 isoform X1 [KO:K04440] [EC:2.7.11.24]
113243106  MAPK8; mitogen-activated protein kinase 8 isoform X2 [KO:K04440] [EC:2.7.11.24]
113264490  ATXN1; ataxin-1 [KO:K23616]
113252452  ATXN1L; ataxin-1-like [KO:K23616]
113244098  KAT5; histone acetyltransferase KAT5 isoform X2 [KO:K11304] [EC:2.3.1.48]
113269696  RORA; nuclear receptor ROR-alpha isoform X1 [KO:K08532]
113266954  ATP2A2; sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X1 [KO:K05853] [EC:7.2.2.10]
113267625  ATP2A1; sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X2 [KO:K05853] [EC:7.2.2.10]
113269168  ATP2A3; sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform X1 [KO:K05853] [EC:7.2.2.10]
125281549  SLC1A6; excitatory amino acid transporter 4 isoform X1 [KO:K05617]
113243516  CIC; protein capicua homolog isoform X1 [KO:K20225]
113270269  PUM2; pumilio homolog 2 isoform X1 [KO:K17943]
113268391  PUM1; pumilio homolog 1 isoform X1 [KO:K17943]
113247109  TBP; TATA-box-binding protein [KO:K03120]
113242339  TBPL2; TATA box-binding protein-like 2 [KO:K03120]
113259467  TBPL1; TATA box-binding protein-like 1 [KO:K03120]
113258648  RBPJL; recombining binding protein suppressor of hairless-like protein [KO:K06053]
113266766  RBPJ; recombining binding protein suppressor of hairless isoform X4 [KO:K06053]
113254443  GTF2B; transcription initiation factor IIB [KO:K03124]
113261320  NFYA; nuclear transcription factor Y subunit alpha isoform X1 [KO:K08064]
113245005  XBP1; X-box-binding protein 1 [KO:K09027]
113246605  MYOD1; myoblast determination protein 1 [KO:K09064]
113270510  MTOR; serine/threonine-protein kinase mTOR [KO:K07203] [EC:2.7.11.1]
113266853  ULK1; LOW QUALITY PROTEIN: serine/threonine-protein kinase ULK1 [KO:K21357] [EC:2.7.11.1]
113271267  ULK2; serine/threonine-protein kinase ULK2 isoform X1 [KO:K08269] [EC:2.7.11.1]
113257592  ATG101; autophagy-related protein 101 [KO:K19730]
113264980  ATG13; autophagy-related protein 13 isoform X3 [KO:K08331]
113268105  RB1CC1; RB1-inducible coiled-coil protein 1 isoform X1 [KO:K17589]
113264983  AMBRA1; activating molecule in BECN1-regulated autophagy protein 1 isoform X1 [KO:K17985]
113265398  BECN1; beclin-1 isoform X1 [KO:K08334]
113246853  BECN2; beclin-2 [KO:K08334]
113253924  PIK3R4; phosphoinositide 3-kinase regulatory subunit 4 [KO:K08333] [EC:2.7.11.1]
113242341  ATG14; beclin 1-associated autophagy-related key regulator [KO:K17889]
113259094  NRBF2; nuclear receptor-binding factor 2 isoform X1 [KO:K21246]
113253361  PIK3C3; phosphatidylinositol 3-kinase catalytic subunit type 3 isoform X2 [KO:K00914] [EC:2.7.1.137]
113244147  ATG2A; autophagy-related protein 2 homolog A isoform X3 [KO:K17906]
113267295  ATG2B; autophagy-related protein 2 homolog B isoform X1 [KO:K17906]
113267967  WIPI2; WD repeat domain phosphoinositide-interacting protein 2 isoform X1 [KO:K17908]
113265240  WIPI1; WD repeat domain phosphoinositide-interacting protein 1 isoform X1 [KO:K17908]
113247246  KCNC3; potassium voltage-gated channel subfamily C member 3 isoform X1 [KO:K04889]
113244424  KCND3; potassium voltage-gated channel subfamily D member 3 [KO:K04893]
113258887  RELN; reelin [KO:K06249] [EC:3.4.21.-]
113270178  VLDLR; very low-density lipoprotein receptor isoform X2 [KO:K20053]
113254207  DAB1; disabled homolog 1 isoform X2 [KO:K20054]
113254799  PIK3CA; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [KO:K00922] [EC:2.7.1.153]
113270537  PIK3CD; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1 [KO:K00922] [EC:2.7.1.153]
113253989  PIK3CB; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform isoform X1 [KO:K00922] [EC:2.7.1.153]
113256705  PIK3R2; phosphatidylinositol 3-kinase regulatory subunit beta [KO:K02649]
113254730  PIK3R3; phosphatidylinositol 3-kinase regulatory subunit gamma isoform X2 [KO:K02649]
113255266  PIK3R1; phosphatidylinositol 3-kinase regulatory subunit alpha isoform X1 [KO:K02649]
113267192  AKT1; RAC-alpha serine/threonine-protein kinase isoform X1 [KO:K04456] [EC:2.7.11.1]
113243572  AKT2; RAC-beta serine/threonine-protein kinase isoform X2 [KO:K04456] [EC:2.7.11.1]
113262966  AKT3; RAC-gamma serine/threonine-protein kinase isoform X1 [KO:K04456] [EC:2.7.11.1]
113251842  TWNK; twinkle mtDNA helicase isoform X1 [KO:K17680] [EC:5.6.2.3]
113251730  BEAN1; protein BEAN1 [KO:K19324]
113258410  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
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
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Cell 172:924-936.e11 (2018)
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Irie T, Matsuzaki Y, Sekino Y, Hirai H
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Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.
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J Physiol 592:229-47 (2014)
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Bushart DD, Murphy GG, Shakkottai VG
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Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease.
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Spinocerebellar Ataxia Type 37
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