Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

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Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.TINS.2010.02.005
P932PMC publication ID4684264
P698PubMed publication ID20226542

P50authorAndrew SingletonQ4758591
John Anthony HardyQ6237755
Joyce van de LeemputQ80740504
Stephanie SchorgeQ41776617
P2093author name stringHenry Houlden
P2860cites workDeletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansQ21092490
Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variantQ24304421
Normal motor learning during pharmacological prevention of Purkinje cell long-term depressionQ24539003
Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channelsQ24544162
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CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitQ27312310
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.Q27919715
Phosphorylation of the AMPA receptor subunit GluR2 differentially regulates its interaction with PDZ domain-containing proteinsQ28139757
A mouse model of episodic ataxia type-1Q28213245
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targetingQ81196143
Characterization of mutant mice that express polyglutamine in cerebellar Purkinje cellsQ83062586
The wide spectrum of spinocerebellar ataxias (SCAs)Q28250912
Enhancement of both long-term depression induction and optokinetic response adaptation in mice lacking delphilinQ28510852
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3Q28575230
Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cellsQ28755340
Blocking and isolation of a calcium channel from neurons in mammals and cephalopods utilizing a toxin fraction (FTX) from funnel-web spider poisonQ29029753
Localization and targeting of voltage-dependent ion channels in mammalian central neurons.Q30492681
Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degenerationQ31115849
Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptorQ33179400
Expression of protein kinase C inhibitor blocks cerebellar long-term depression without affecting Purkinje cell excitability in alert mice.Q33182251
Synaptic memories upside down: bidirectional plasticity at cerebellar parallel fiber-Purkinje cell synapsesQ33260640
Cerebellar motor learning: when is cortical plasticity not enough?Q33304211
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)Q33857850
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.Q33887926
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxiaQ33905051
Purkinje cell long-term depression is prevented by T-588, a neuroprotective compound that reduces cytosolic calcium release from intracellular storesQ34144706
'New' functions for 'old' proteins: the role of the calcium-binding proteins calbindin D-28k, calretinin and parvalbumin, in cerebellar physiology. Studies with knockout miceQ34216909
Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant miceQ34325156
Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1.Q34326346
Bidirectional parallel fiber plasticity in the cerebellum under climbing fiber controlQ34367268
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Spectrin mutations cause spinocerebellar ataxia type 5.Q34486967
CAG repeat disorder models and human neuropathology: similarities and differencesQ34677190
Postsynaptic inositol 1,4,5-trisphosphate signaling maintains presynaptic function of parallel fiber-Purkinje cell synapses via BDNFQ34694478
Reversing cerebellar long-term depression.Q34794216
Voltage-gated K channelsQ35161667
The pathogenesis of spinocerebellar ataxiaQ36128461
The role of the endoplasmic reticulum Ca2+ store in the plasticity of central neuronsQ36367983
Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellumQ36737609
Episodic ataxia type 1: a neuronal potassium channelopathyQ36774725
Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.Q36788552
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channelsQ36823235
Synaptic signalling in cerebellar plasticity.Q36848973
Molecular mechanisms governing competitive synaptic wiring in cerebellar Purkinje cellsQ37103557
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.Q37130485
Kv3.3 channels at the Purkinje cell soma are necessary for generation of the classical complex spike waveformQ37132280
H2-K(b) and H2-D(b) regulate cerebellar long-term depression and limit motor learning.Q37167708
Calcium signaling in dendrites and spines: practical and functional considerationsQ37279422
Emerging pathogenic pathways in the spinocerebellar ataxiasQ37289638
The cerebellum, cerebellar disorders, and cerebellar research--two centuries of discoveriesQ37293902
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.Q37359666
The role of Kv3-type potassium channels in cerebellar physiology and behaviorQ37402502
Models of traumatic cerebellar injuryQ37507744
Calcium signaling and neurodegenerative diseasesQ39463322
Cbln1 regulates rapid formation and maintenance of excitatory synapses in mature cerebellar Purkinje cells in vitro and in vivoQ39975216
Developmental regulation of small-conductance Ca2+-activated K+ channel expression and function in rat Purkinje neurons.Q40728184
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter releaseQ41776530
Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodiesQ42437455
A unique PDZ ligand in PKCalpha confers induction of cerebellar long-term synaptic depressionQ42823648
Large CACNA1A deletion in a family with episodic ataxia type 2.Q43406275
Neuronal glutamate transporters control activation of postsynaptic metabotropic glutamate receptors and influence cerebellar long-term depressionQ43730146
Requirement of AMPA receptor GluR2 phosphorylation for cerebellar long-term depression.Q44477424
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gammaQ44693780
Kv3 K+ channels enable burst output in rat cerebellar Purkinje cellsQ44980269
Kv1 K+ channels control Purkinje cell output to facilitate postsynaptic rebound discharge in deep cerebellar neurons.Q45259409
Ca2+ signaling pathways linked to glutamate receptor activation in the somatic and dendritic regions of cultured cerebellar purkinje neurons.Q45984832
Blockade of glutamate transporters facilitates cerebellar synaptic long-term depressionQ46086745
Patterned expression of Purkinje cell glutamate transporters controls synaptic plasticityQ46681610
NMDA receptor contribution to the climbing fiber response in the adult mouse Purkinje cellQ46968768
Climbing-fibre activation of NMDA receptors in Purkinje cells of adult miceQ46977385
Kv1 channels selectively prevent dendritic hyperexcitability in rat Purkinje cellsQ47858279
Type 1 inositol 1,4,5-trisphosphate receptor is required for induction of long-term depression in cerebellar Purkinje neurons.Q47892523
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.Q47906427
Expression of two glutamate transporters, GLAST and EAAT4, in the human cerebellum: their correlation in development and neonatal hypoxic-ischemic damageQ47964118
Spino-dendritic cross-talk in rodent Purkinje neurons mediated by endogenous Ca2+-binding proteins.Q48249633
Physiological role of dendrotoxin-sensitive K+ channels in the rat cerebellar Purkinje neuronsQ48377737
Selective engagement of plasticity mechanisms for motor memory storage.Q48418601
Deletion of the K(V)1.1 potassium channel causes epilepsy in miceQ48472743
Targeted in vivo mutations of the AMPA receptor subunit GluR2 and its interacting protein PICK1 eliminate cerebellar long-term depressionQ48615352
Purkinje-cell-restricted restoration of Kv3.3 function restores complex spikes and rescues motor coordination in Kcnc3 mutants.Q50636537
Coincidence detection in single dendritic spines mediated by calcium release.Q51644044
Excitatory amino acid receptor-channels in Purkinje cells in thin cerebellar slicesQ51710576
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.Q51788908
Impaired synapse elimination during cerebellar development in PKC gamma mutant mice.Q52204081
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.Q54474126
Clinical and genetic analysis of spinocerebellar ataxia type 11Q61610444
The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouseQ71954986
P433issue5
P304page(s)211-219
P577publication date2010-03-11
P1433published inTrends in NeurosciencesQ3538443
P1476titleHuman ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling
P478volume33

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