IP3 receptor mutations and brain diseases in human and rodents

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

(2016) Meriel McEntagart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

(2016) Sylvie Gerber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein aggregation and ER stress

(2016) Navit Ogen-Shtern et al.   BRAIN RESEARCH

When, where and how? Focus on neuronal calcium dysfunctions in Alzheimer’s Disease

(2016) Mario Agostini et al.   CELL CALCIUM

Mutations in the IRBIT domain ofITPR1are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2016) S. Barresi et al.   CLINICAL GENETICS

Spinocerebellar ataxia: relationship between phenotype and genotype - a review

(2016) Y.-M. Sun et al.   CLINICAL GENETICS

Type 1 and 3 inositol trisphosphate receptors are required for extra-embryonic vascular development

(2016) Keiko Uchida et al.   DEVELOPMENTAL BIOLOGY

Genetic ablation of IP3receptor 2 increases cytokines and decreases survival ofSOD1G93Amice

(2016) Kim A. Staats et al.   HUMAN MOLECULAR GENETICS

In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model

(2016) Polina A. Egorova et al.   JOURNAL OF NEUROPHYSIOLOGY

Amyloid-β Peptide Nitrotyrosination Stabilizes Oligomers and Enhances NMDAR-Mediated Toxicity

(2016) Biuse Guivernau et al.   JOURNAL OF NEUROSCIENCE

Enhanced Store-Operated Calcium Entry Leads to Striatal Synaptic Loss in a Huntington's Disease Mouse Model

(2016) J. Wu et al.   JOURNAL OF NEUROSCIENCE

The Inositol Trisphosphate/Calcium Signaling Pathway in Health and Disease

(2016) Michael J. Berridge   PHYSIOLOGICAL REVIEWS

Familial Alzheimer’s disease–associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+entry

(2016) Benjamin Chun-Kit Tong et al.   Science Signaling

Familial Alzheimer’s disease–associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+entry

(2016) Benjamin Chun-Kit Tong et al.   Science Signaling

Structural insights into endoplasmic reticulum stored calcium regulation by inositol 1,4,5-trisphosphate and ryanodine receptors

(2015) Min-Duk Seo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The type 2 inositol 1,4,5-trisphosphate receptor, emerging functions for an intriguing Ca2+-release channel

(2015) Tamara Vervloessem et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

TRPC3‐dependent synaptic transmission in central mammalian neurons

(2015) Jana Hartmann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

(2015) Masayuki Sasaki et al.   JOURNAL OF NEUROLOGY

Neuronal Store-Operated Calcium Entry and Mushroom Spine Loss in Amyloid Precursor Protein Knock-In Mouse Model of Alzheimer's Disease

(2015) H. Zhang et al.   JOURNAL OF NEUROSCIENCE

Gating machinery of InsP3R channels revealed by electron cryomicroscopy

(2015) Guizhen Fan et al.   NATURE

Disrupted-in-schizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity

(2015) Daisuke Tsuboi et al.   NATURE NEUROSCIENCE

Disrupted-in-schizophrenia-1 (DISC1) Regulates Endoplasmic Reticulum Calcium Dynamics

(2015) Sung Jin Park et al.   Scientific Reports

Bidirectional Control of Synaptic GABAAR Clustering by Glutamate and Calcium

(2015) Hiroko Bannai et al.   Cell Reports

Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer’s Disease-Causing Mutants in Presenilins

(2015) Don-On Daniel Mak et al.   PLoS Computational Biology

Phospholipase C-β1 Hypofunction in the Pathogenesis of Schizophrenia

(2015) Seong-Wook Kim et al.   Frontiers in Psychiatry

Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein

(2014) Hideyuki Takahashi et al.   HUMAN MOLECULAR GENETICS

Calcineurin-NFATc Regulates Type 2 Inositol 1,4,5-Trisphosphate Receptor (InsP3R2) Expression during Cardiac Remodeling

(2014) Natesan Sankar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

(2014) Joakim Klar et al.   JOURNAL OF CLINICAL INVESTIGATION

Suppression of InsP3 Receptor-Mediated Ca2+ Signaling Alleviates Mutant Presenilin-Linked Familial Alzheimer's Disease Pathogenesis

(2014) D. Shilling et al.   JOURNAL OF NEUROSCIENCE

Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization

(2014) Y.-C. Guo et al.   NEUROLOGY

Reduced Synaptic STIM2 Expression and Impaired Store-Operated Calcium Entry Cause Destabilization of Mature Spines in Mutant Presenilin Mice

(2014) Suya Sun et al.   NEURON

Evidence of efficient stop codon readthrough in four mammalian genes

(2014) Gary Loughran et al.   NUCLEIC ACIDS RESEARCH

Transglutaminase Regulation of Cell Function

(2014) Richard L. Eckert et al.   PHYSIOLOGICAL REVIEWS

Mice Lacking Inositol 1,4,5-Trisphosphate Receptors Exhibit Dry Eye

(2014) Takaaki Inaba et al.   PLoS One

Aberrant calcium signaling by transglutaminase-mediated posttranslational modification of inositol 1,4,5-trisphosphate receptors

(2014) K. Hamada et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The IP3 Receptor as a Hub for Bcl-2 Family Proteins in Cell Death Control and Beyond

(2014) J. B. Parys   Science Signaling

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

TRPC3 Channel Underlies Cerebellar Long-Term Depression

(2013) Sang Jeong Kim   CEREBELLUM

Cytotoxicity of Intracellular A 42 Amyloid Oligomers Involves Ca2+ Release from the Endoplasmic Reticulum by Stimulated Production of Inositol Trisphosphate

(2013) A. Demuro et al.   JOURNAL OF NEUROSCIENCE

Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

(2013) T. Sugawara et al.   JOURNAL OF NEUROSCIENCE

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Dysregulation of neural calcium signaling in Alzheimer disease, bipolar disorder and schizophrenia

(2013) Michael J. Berridge   Prion

Distinct kinetics of synaptic structural plasticity, memory formation, and memory decay in massed and spaced learning

(2013) W. Aziz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinct cerebellar engrams in short-term and long-term motor learning

(2013) W. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice

(2013) Chihiro Hisatsune et al.   Frontiers in Neural Circuits

Alzheimer's disease-associated peptide Aβ42 mobilizes ER Ca2+ via InsP3R-dependent and -independent mechanisms

(2013) Laura E. Jensen et al.   Frontiers in Molecular Neuroscience

Neuronal overexpression of IP3 receptor 2 is detrimental in mutant SOD1 mice

(2012) Kim A. Staats et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis

(2012) Wen-Juan Guan et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Type 2 transglutaminase is involved in the autophagy-dependent clearance of ubiquitinated proteins

(2012) M D'Eletto et al.   CELL DEATH AND DIFFERENTIATION

Selective Positive Modulator of Calcium-Activated Potassium Channels Exerts Beneficial Effects in a Mouse Model of Spinocerebellar Ataxia Type 2

(2012) Adebimpe W. Kasumu et al.   CHEMISTRY & BIOLOGY

Mutual antagonism between IP3RII and miRNA-133a regulates calcium signals and cardiac hypertrophy

(2012) Faye M. Drawnel et al.   JOURNAL OF CELL BIOLOGY

Itpr3 Is Responsible for the Mouse Tufted (tf) Locus

(2012) Hillary T. Ellis et al.   JOURNAL OF HEREDITY

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

(2012) Masato Obayashi et al.   JOURNAL OF HUMAN GENETICS

Regulation of Hair Shedding by the Type 3 IP3 Receptor

(2012) Mai Sato-Miyaoka et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Chronic Suppression of Inositol 1,4,5-Triphosphate Receptor-Mediated Calcium Signaling in Cerebellar Purkinje Cells Alleviates Pathological Phenotype in Spinocerebellar Ataxia 2 Mice

(2012) A. W. Kasumu et al.   JOURNAL OF NEUROSCIENCE

Endoplasmic reticulum dysfunction in neurological disease

(2012) Benoit D Roussel et al.   LANCET NEUROLOGY

Structural and functional conservation of key domains in InsP3 and ryanodine receptors

(2012) Min-Duk Seo et al.   NATURE

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

Revisiting Channel Allostery: A Coherent Mechanism in IP3 and Ryanodine Receptors

(2012) K. Hamada et al.   Science Signaling

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

(2011) Namik Kaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family

(2011) Haruka Yamazaki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Neuronal Store-Operated Calcium Entry Pathway as a Novel Therapeutic Target for Huntington's Disease Treatment

(2011) Jun Wu et al.   CHEMISTRY & BIOLOGY

Evidence of abundant stop codon readthrough in Drosophila and other metazoa

(2011) I. Jungreis et al.   GENOME RESEARCH

Disrupted-in-Schizophrenia-1 (Disc1) is necessary for migration of the pyramidal neurons during mouse hippocampal development

(2011) Kenji Tomita et al.   HUMAN MOLECULAR GENETICS

Lack of Kinase Regulation of Canonical Transient Receptor Potential 3 (TRPC3) Channel-dependent Currents in Cerebellar Purkinje Cells

(2011) Charmaine Nelson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2011) R. Hourez et al.   JOURNAL OF NEUROSCIENCE

Mutant PKC  in Spinocerebellar Ataxia Type 14 Disrupts Synapse Elimination and Long-Term Depression in Purkinje Cells In Vivo

(2011) A. N. Shuvaev et al.   JOURNAL OF NEUROSCIENCE

Early Changes in Cerebellar Physiology Accompany Motor Dysfunction in the Polyglutamine Disease Spinocerebellar Ataxia Type 3

(2011) V. G. Shakkottai et al.   JOURNAL OF NEUROSCIENCE

Apo and InsP3-bound crystal structures of the ligand-binding domain of an InsP3 receptor

(2011) Chun-Chi Lin et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Role of Inositol 1,4,5-Trishosphate Receptors in Pathogenesis of Huntington’s Disease and Spinocerebellar Ataxias

(2011) Ilya Bezprozvanny   NEUROCHEMICAL RESEARCH

Constitutive cAMP response element binding protein (CREB) activation by Alzheimer's disease presenilin-driven inositol trisphosphate receptor (InsP3R) Ca2+signaling

(2011) Marioly Müller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enhanced ROS Generation Mediated by Alzheimer's Disease Presenilin Regulation of InsP3R Ca2+ Signaling

(2010) Marioly Müller et al.   ANTIOXIDANTS & REDOX SIGNALING

Amyloid β oligomers induce Ca2+ dysregulation and neuronal death through activation of ionotropic glutamate receptors

(2010) Elena Alberdi et al.   CELL CALCIUM

The IP 3 Receptor Regulates Cardiac Hypertrophy in Response to Select Stimuli

(2010) Hiroyuki Nakayama et al.   CIRCULATION RESEARCH

Structural Studies of Inositol 1,4,5-Trisphosphate Receptor

(2010) Jenny Chan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tyr-167/Trp-168 in Type 1/3 Inositol 1,4,5-Trisphosphate Receptor Mediates Functional Coupling between Ligand Binding and Channel Opening

(2010) Haruka Yamazaki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of  -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

(2010) E. M. Perkins et al.   JOURNAL OF NEUROSCIENCE

Disrupted in Schizophrenia-1 regulates intracellular trafficking of mitochondria in neurons

(2010) T A Atkin et al.   MOLECULAR PSYCHIATRY

The psychiatric disease risk factors DISC1 and TNIK interact to regulate synapse composition and function

(2010) Q Wang et al.   MOLECULAR PSYCHIATRY

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

(2010) Marianne J.U. Novak et al.   MOVEMENT DISORDERS

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

(2010) Joyce van de Leemput et al.   MOVEMENT DISORDERS

Disrupted-in-Schizophrenia 1 (DISC1) regulates spines of the glutamate synapse via Rac1

(2010) Akiko Hayashi-Takagi et al.   NATURE NEUROSCIENCE

Abnormal neural oscillations and synchrony in schizophrenia

(2010) Peter J. Uhlhaas et al.   NATURE REVIEWS NEUROSCIENCE

Mechanism of ER Stress-Induced Brain Damage by IP3 Receptor

(2010) Takayasu Higo et al.   NEURON

Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis

(2010) Keiko Uchida et al.   PLoS One

Disrupted-in-schizophrenia1 (DISC1) plays essential roles in mitochondria in collaboration with Mitofilin

(2010) Young-Un Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain-of-Function Enhancement of IP3 Receptor Modal Gating by Familial Alzheimer's Disease-Linked Presenilin Mutants in Human Cells and Mouse Neurons

(2010) K.-H. Cheung et al.   Science Signaling

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

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

Transglutaminase 2 is involved in autophagosome maturation

(2009) Manuela D'Eletto et al.   Autophagy

Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15

(2009) D. Ganesamoorthy et al.   CLINICAL CHEMISTRY

G-protein-coupled Receptor Kinase-interacting Proteins Inhibit Apoptosis by Inositol 1,4,5-Triphosphate Receptor-mediated Ca2+Signal Regulation

(2009) Songbai Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

Neuroprotective Effects of Inositol 1,4,5-Trisphosphate Receptor C-Terminal Fragment in a Huntington's Disease Mouse Model

(2009) T.-S. Tang et al.   JOURNAL OF NEUROSCIENCE

Synthetic partial agonists reveal key steps in IP3 receptor activation

(2009) Ana M Rossi et al.   Nature Chemical Biology

Transglutaminases and Disease: Lessons From Genetically Engineered Mouse Models and Inherited Disorders

(2009) Siiri E. Iismaa et al.   PHYSIOLOGICAL REVIEWS

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

(2009) E. B. E. Becker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

(2009) Seval Türkmen et al.   PLoS Genetics

Enzymological Analysis of Mutant Protein Kinase Cγ Causing Spinocerebellar Ataxia Type 14 and Dysfunction in Ca2+Homeostasis

(2008) Naoko Adachi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SERCA pump activity is physiologically regulated by presenilin and regulates amyloid β production

(2008) Kim N. Green et al.   JOURNAL OF CELL BIOLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

(2008) X. Chen et al.   JOURNAL OF NEUROSCIENCE

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

(2008) Inki Kim et al.   NATURE REVIEWS DRUG DISCOVERY

Mutant γPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells

(2008) Takahiro Seki et al.   NEUROBIOLOGY OF DISEASE

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

(2008) K. Hara et al.   NEUROLOGY

Mechanism of Ca2+ Disruption in Alzheimer's Disease by Presenilin Regulation of InsP3 Receptor Channel Gating

(2008) King-Ho Cheung et al.   NEURON

Linking Calcium to Aβ and Alzheimer's Disease

(2008) Kim N. Green et al.   NEURON

Osteoblasts induce Ca2+ oscillation-independent NFATc1 activation during osteoclastogenesis

(2008) Y. Kuroda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal calcium mishandling and the pathogenesis of Alzheimer's disease

(2008) Ilya Bezprozvanny et al.   TRENDS IN NEUROSCIENCES