Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders

scientific article published on 18 December 2017

Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1111/FEBS.14366
P698PubMed publication ID29253316

P2093author name stringIlya B Bezprozvanny
Polina A Egorova
P2860cites workCarboxyl-terminal sequences critical for inositol 1,4,5-trisphosphate receptor subunit assemblyQ44177977
Dysregulated IP3 signaling in cortical neurons of knock-in mice expressing an Alzheimer's-linked mutation in presenilin1 results in exaggerated Ca2+ signals and altered membrane excitability.Q44728737
Aβ and NMDAR activation cause mitochondrial dysfunction involving ER calcium releaseQ45850701
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 familiesQ46519046
Endogenous signalling pathways and caged IP3 evoke Ca2+ puffs at the same abundant immobile intracellular sites.Q47097739
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.Q48269069
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 geneQ48270136
Revisiting channel allostery: a coherent mechanism in IP₃ and ryanodine receptorsQ48496001
The attribution of human infections with antimicrobial resistant Salmonella bacteria in Denmark to sources of animal originQ50068407
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Q50521784
Aβ42 oligomers selectively disrupt neuronal calcium release.Q50767005
Highly Sensitive Measurement of Inositol 1,4,5-Trisphosphate by Using a New Fluorescent Ligand and Ligand Binding Domain Combination.Q51725336
Differential deregulation of astrocytic calcium signalling by amyloid-β, TNFα, IL-1β and LPS.Q53462673
Apoptosis induced by Aβ25-35 peptide is Ca(2+) -IP3 signaling-dependent in murine astrocytes.Q53464414
Calcium - a life and death signalQ56836038
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansQ21092490
Huntingtin interacting proteins are genetic modifiers of neurodegenerationQ21145230
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or humanQ24290184
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutationsQ24301868
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1Q24302464
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
Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1Q24310249
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brainQ24317460
Neuronal calcium sensor-1 enhancement of InsP3 receptor activity is inhibited by therapeutic levels of lithiumQ24547141
ATP-dependent adenophostin activation of inositol 1,4,5-trisphosphate receptor channel gating: kinetic implications for the durations of calcium puffs in cellsQ24644630
Neuroprotective effects of inositol 1,4,5-trisphosphate receptor C-terminal fragment in a Huntington's disease mouse modelQ24647950
Structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with its ligandQ27639992
Apo and InsP3-bound crystal structures of the ligand-binding domain of an InsP3 receptorQ27673043
Structural and functional conservation of key domains in InsP3 and ryanodine receptorsQ27676937
The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeuticsQ27860914
The Bcl-2 protein family member Bok binds to the coupling domain of inositol 1,4,5-trisphosphate receptors and protects them from proteolytic cleavageQ28115007
Huntington's diseaseQ28284355
Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylationQ28566835
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3Q28575230
HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate-induced Ca release in primary culture of striatal medium spiny neuronsQ28592352
Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspectiveQ29614702
Three additional inositol 1,4,5-trisphosphate receptors: molecular cloning and differential localization in brain and peripheral tissuesQ30989369
The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activityQ33292521
Suppression of InsP3 receptor-mediated Ca2+ signaling alleviates mutant presenilin-linked familial Alzheimer's disease pathogenesis.Q33605796
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia seriesQ33831290
Expression of inositol trisphosphate receptors.Q33834374
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.Q33850154
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathologyQ33860898
Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neuronsQ33966472
Inositol trisphosphate receptor Ca2+ release channels.Q33983069
Toward a high-resolution structure of IP₃R channelQ34173862
Functional characterization of the type 1 inositol 1,4,5-trisphosphate receptor coupling domain SII(+/-) splice variants and the Opisthotonos mutant formQ34177631
Functional and biochemical analysis of the type 1 inositol (1,4,5)-trisphosphate receptor calcium sensorQ34181907
Aberrant calcium signaling by transglutaminase-mediated posttranslational modification of inositol 1,4,5-trisphosphate receptorsQ34281322
Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxiaQ34306449
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.Q34405223
Caffeine-induced inhibition of inositol(1,4,5)-trisphosphate-gated calcium channels from cerebellumQ34439930
IP3 receptor/Ca2+ channel: from discovery to new signaling conceptsQ34662801
Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functionsQ34704996
Molecular characterization of the inositol 1,4,5-trisphosphate receptor pore-forming segmentQ34715202
Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxiasQ34981549
Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxiaQ34990974
Direct association of ligand-binding and pore domains in homo- and heterotetrameric inositol 1,4,5-trisphosphate receptorsQ35116636
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaQ35125192
Inositol 1,4,5-trisphosphate receptor localized to endoplasmic reticulum in cerebellar Purkinje neuronsQ35453195
Primary structure and functional expression of the inositol 1,4,5-trisphosphate-binding protein P400.Q35534135
A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ SignalingQ35662322
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxiasQ35670193
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesisQ35751839
Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer's Disease-Causing Mutants in Presenilins.Q35800316
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughsQ35906130
Bcl-2 family in inter-organelle modulation of calcium signaling; roles in bioenergetics and cell survivalQ35928205
The inositol 1,4,5-trisphosphate receptorsQ36231356
Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 miceQ36315976
Bcl-2 functionally interacts with inositol 1,4,5-trisphosphate receptors to regulate calcium release from the ER in response to inositol 1,4,5-trisphosphate.Q36322335
Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signalingQ36384774
ROCK-phosphorylated vimentin modifies mutant huntingtin aggregation via sequestration of IRBIT.Q36411728
Enhanced Store-Operated Calcium Entry Leads to Striatal Synaptic Loss in a Huntington's Disease Mouse Model.Q36431970
Identification of functionally critical residues in the channel domain of inositol trisphosphate receptorsQ36481838
Gating machinery of InsP3R channels revealed by electron cryomicroscopyQ36721050
Biphasic regulation of InsP3 receptor gating by dual Ca2+ release channel BH3-like domains mediates Bcl-xL control of cell viabilityQ36770769
Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.Q36788552
CaBP1, a neuronal Ca2+ sensor protein, inhibits inositol trisphosphate receptors by clamping intersubunit interactions.Q36884135
Neuronal calcium mishandling and the pathogenesis of Alzheimer's diseaseQ36934762
In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse modelQ37042016
Aggregation of expanded huntingtin in the brains of patients with Huntington disease.Q37079417
Spinocerebellar ataxia 2 (SCA2).Q37140787
Alzheimer's disease-associated peptide Aβ42 mobilizes ER Ca(2+) via InsP3R-dependent and -independent mechanisms.Q37280639
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.Q37359666
Regulation of inositol 1,4,5-trisphosphate-induced Ca2+ release by reversible phosphorylation and dephosphorylation.Q37365504
Impaired mitochondrial function due to familial Alzheimer's disease-causing presenilins mutants via Ca(2+) disruptionsQ37383808
Bcl-2 family on guard at the ER.Q37412841
The role of intracellular calcium stores in synaptic plasticity and memory consolidationQ38103722
IRBIT: a regulator of ion channels and ion transporters.Q38187237
Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's diseaseQ38408049
IP3 receptor mutations and brain diseases in human and rodents.Q39140608
Calcium signaling, PKC gamma, IP3R1 and CAR8 link spinocerebellar ataxias and Purkinje cell dendritic development.Q39336233
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological descriptionQ39673940
Biochemical and Immunological Studies on the P<sub>400</sub> Protein, a Protein Characteristic of the Purkinje Cell from Mouse and Rat CerebellumQ39718189
Putative receptor for inositol 1,4,5-trisphosphate similar to ryanodine receptorQ39755978
The gain-of-function enhancement of IP3-receptor channel gating by familial Alzheimer's disease-linked presenilin mutants increases the open probability of mitochondrial permeability transition poreQ39762857
Calpain inhibition is sufficient to suppress aggregation of polyglutamine-expanded ataxin-3.Q40135127
Intracellular channelsQ40392897
Three-dimensional Rearrangements within Inositol 1,4,5-Trisphosphate Receptor by CalciumQ40620855
Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating.Q41256595
Heterotetrameric complex formation of inositol 1,4,5-trisphosphate receptor subunitsQ41334433
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeQ41368463
Alzheimer's presenilin-1 mutation potentiates inositol 1,4,5-trisphosphate-mediated calcium signaling in Xenopus oocytesQ41609588
Amyloid-β and Alzheimer's disease type pathology differentially affects the calcium signalling toolkit in astrocytes from different brain regionsQ41880646
Regulators of calcium homeostasis identified by inference of kinetic model parameters from live single cells perturbed by siRNA.Q41881898
Nuclear ALG-2 protein interacts with Ca2+ homeostasis endoplasmic reticulum protein (CHERP) Ca2+-dependently and participates in regulation of alternative splicing of inositol trisphosphate receptor type 1 (IP3R1) pre-mRNA.Q42135943
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.Q42361619
Analysis of calcium homeostasis in fresh lymphocytes from patients with sporadic Alzheimer's disease or mild cognitive impairmentQ42519895
Mechanism of ER stress-induced brain damage by IP(3) receptorQ42781656
IP3-mediated gating mechanism of the IP3 receptor revealed by mutagenesis and X-ray crystallographyQ43083585
Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult miceQ43506578
P407language of work or nameEnglishQ1860
P921main subjectneurodegenerationQ1755122
P577publication date2017-12-18
P1433published inFEBS JournalQ1388041
P1476titleInositol 1,4,5-trisphosphate receptors and neurodegenerative disorders

Reverse relations

cites work (P2860)
Q92131811Ataxic Symptoms in Huntington's Disease Transgenic Mouse Model Are Alleviated by Chlorzoxazone
Q89985788Atm deficiency in the DNA polymerase β null cerebellum results in cerebellar ataxia and Itpr1 reduction associated with alteration of cytosine methylation
Q100512350Characterization of a Cul9-Parkin double knockout mouse model for Parkinson's disease
Q89017844In Vivo Analysis of the Climbing Fiber-Purkinje Cell Circuit in SCA2-58Q Transgenic Mouse Model
Q88628745NCS-1 is a regulator of calcium signaling in health and disease
Q90255937Structural basis for the regulation of inositol trisphosphate receptors by Ca2+ and IP3
Q90730944The Making and Breaking of Inositol 1,4,5-Trisphosphate Receptor Tetramers
Q57022001The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding

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