Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA)

The cerebellum gets social

(2019) Egidio D'Angelo   SCIENCE

T-type calcium channels: From molecule to therapeutic opportunities

(2019) Norbert Weiss et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Group 1 metabotropic glutamate receptors trigger glutamate-induced intracellular Ca2+ signals and nitric oxide release in human brain microvascular endothelial cells

(2019) Sharon Negri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Endothelial Ca2+ Signaling, Angiogenesis and Vasculogenesis: just What It Takes to Make a Blood Vessel

(2019) Moccia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

(2019) Shunta Hashiguchi et al.   NEUROBIOLOGY OF DISEASE

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

(2018) Hayley S. McLoughlin et al.   ANNALS OF NEUROLOGY

Pathophysiological consequences of isoform-specific IP 3 receptor mutations

(2018) Martijn Kerkhofs et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

The Role of Endothelial Ca2+ Signaling in Neurovascular Coupling: A View from the Lumen

(2018) Germano Guerra et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B

(2018) Ronald A.M. Buijsen et al.   Stem Cell Research

Elongator mutation in mice induces neurodegeneration and ataxia-like behavior

(2018) Marija Kojic et al.   Nature Communications

Spinocerebellar ataxia: an update

(2018) Roisin Sullivan et al.   JOURNAL OF NEUROLOGY

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

(2017) Joakim Klar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

(2017) Lance T. Pflieger et al.   HUMAN MOLECULAR GENETICS

TRPC3-mediated Ca2+ signals as a promising strategy to boost therapeutic angiogenesis in failing hearts: The role of autologous endothelial colony forming cells

(2017) Francesco Moccia et al.   JOURNAL OF CELLULAR PHYSIOLOGY

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia

(2017) Mari Kimura et al.   JOURNAL OF HUMAN GENETICS

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

(2017) Jessica L. Zambonin et al.   Orphanet Journal of Rare Diseases

A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2

(2017) Pratap Meera et al.   eLife

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

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

Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice

(2016) Anton N. Shuvaev et al.   JOURNAL OF PHYSIOLOGY-LONDON

Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6

(2016) Sriram Jayabal et al.   JOURNAL OF PHYSIOLOGY-LONDON

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

(2016) Melissa Ingram et al.   NEURON

Ionic Basis for Membrane Potential Resonance in Neurons of the Inferior Olive

(2016) Yoshiko Matsumoto-Makidono et al.   Cell Reports

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

(2016) Yoshihito Ishida et al.   Cell Reports

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

(2015) Marie Coutelier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

From Mice to Men: TRPC3 in Cerebellar Ataxia

(2015) Esther B. E. Becker   CEREBELLUM

Distributed Circuit Plasticity: New Clues for the Cerebellar Mechanisms of Learning

(2015) Egidio D’Angelo et al.   CEREBELLUM

The mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum

(2015) A. Dulneva et al.   HUMAN MOLECULAR GENETICS

Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia

(2015) Megan S. Keiser et al.   HUMAN MOLECULAR GENETICS

TRPC3‐dependent synaptic transmission in central mammalian neurons

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

A role for mitogen-activated protein kinase phosphatase 1 (MKP1) in neural cell development and survival

(2015) André Toulouse et al.   Neural Regeneration Research

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

(2015) M. Coutelier et al.   NEUROLOGY

Stim and Orai proteins in neuronal Ca2+ signaling and excitability

(2015) Francesco Moccia et al.   Frontiers in Cellular Neuroscience

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

(2015) Hiroyuki Morino et al.   Molecular Brain

Therapeutic prospects for spinocerebellar ataxia type 2 and 3

(2015) I. Bezprozvanny et al.   DRUGS OF THE FUTURE

Inositol 1,4,5-trisphosphate receptor-isoform diversity in cell death and survival

(2014) Hristina Ivanova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice

(2014) Liliana S. Mendonça et al.   BRAIN

The Moonwalker Mouse: New Insights into TRPC3 Function, Cerebellar Development, and Ataxia

(2014) Esther B. E. Becker   CEREBELLUM

Do mutations in the murine ataxia geneTRPC3cause cerebellar ataxia in humans?

(2014) Brent L. Fogel et al.   MOVEMENT DISORDERS

Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14

(2014) Jingmin Ji et al.   NEUROBIOLOGY OF DISEASE

A New Mouse Allele of Glutamate Receptor Delta 2 with Cerebellar Atrophy and Progressive Ataxia

(2014) Yuka Miyoshi et al.   PLoS One

Cerebellar modules operate at different frequencies

(2014) Haibo Zhou et al.   eLife

The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia

(2013) Arnulf H. Koeppen et al.   CEREBELLUM

TRPC3 Channel Underlies Cerebellar Long-Term Depression

(2013) Sang Jeong Kim   CEREBELLUM

Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells

(2013) Ayumu Konno et al.   CEREBELLUM

Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors

(2013) Visou Ady et al.   EMBO REPORTS

Hereditary ataxias: overview

(2013) Suman Jayadev et al.   GENETICS IN MEDICINE

Early Onset of Ataxia in Moonwalker Mice Is Accompanied by Complete Ablation of Type II Unipolar Brush Cells and Purkinje Cell Dysfunction

(2013) G. Sekerkova et al.   JOURNAL OF NEUROSCIENCE

T-type channel blockade impairs long-term potentiation at the parallel fiber-Purkinje cell synapse and cerebellar learning

(2013) R. Ly et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Canonical Transient Receptor Potential 3 Channel Triggers Vascular Endothelial Growth Factor-Induced Intracellular Ca2+ Oscillations in Endothelial Progenitor Cells Isolated from Umbilical Cord Blood

(2013) Silvia Dragoni et al.   STEM CELLS AND DEVELOPMENT

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

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A randomized trial of mesenchymal stem cells in multiple system atrophy

(2012) Phil Hyu Lee et al.   ANNALS OF NEUROLOGY

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

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

(2012) S. T. Hansen et al.   HUMAN MOLECULAR GENETICS

Glutamate Receptor  2 Associates with Metabotropic Glutamate Receptor 1 (mGluR1), Protein Kinase C , and Canonical Transient Receptor Potential 3 and Regulates mGluR1-Mediated Synaptic Transmission in Cerebellar Purkinje Neurons

(2012) A. S. Kato et al.   JOURNAL OF NEUROSCIENCE

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

Ca2+ channel currents in dorsal root ganglion neurons of P/Q-type voltage-gated Ca2+ channel mutant mouse, rolling mouse Nagoya

(2012) Nao Fukumoto et al.   NEUROSCIENCE RESEARCH

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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

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

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias

(2011) Melissa A.C. Ingram et al.   BRAIN RESEARCH BULLETIN

Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia

(2011) Esther B. E. Becker et al.   CEREBELLUM

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Abnormalities in the Climbing Fiber-Purkinje Cell Circuitry Contribute to Neuronal Dysfunction in ATXN1[82Q] Mice

(2011) J. A. Barnes et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Ilya Bezprozvanny   NEUROCHEMICAL RESEARCH

Excitotoxicity and autophagy:Lurchermay not be a model of "autophagic cell death"

(2010) Jun Nishiyama et al.   Autophagy

The cerebellar network: From structure to function and dynamics

(2010) E. D'Angelo et al.   BRAIN RESEARCH REVIEWS

Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15

(2010) Eleonora Di Gregorio et al.   CEREBELLUM

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

Reevaluation of Neurodegeneration in lurcher Mice: Constitutive Ion Fluxes Cause Cell Death with, Not by, Autophagy

(2010) J. Nishiyama et al.   JOURNAL OF NEUROSCIENCE

Subthreshold membrane potential oscillations in inferior olive neurons are dynamically regulated by P/Q- and T-type calcium channels: a study in mutant mice

(2010) Soonwook Choi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis

(2010) Stephan Persengiev et al.   NEUROBIOLOGY OF AGING

Calcium Signalling and Alzheimer’s Disease

(2010) Michael J. Berridge   NEUROCHEMICAL RESEARCH

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial

(2010) G. Ristori et al.   NEUROLOGY

CaV3.1 is a tremor rhythm pacemaker in the inferior olive

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

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

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

IP3 Receptors: Toward Understanding Their Activation

(2010) C. W. Taylor et al.   Cold Spring Harbor Perspectives in Biology

The Role of Transient Receptor Potential Cation Channels in Ca2+ Signaling

(2010) M. Gees et al.   Cold Spring Harbor Perspectives in Biology

Cerebellum and Nonmotor Function

(2009) Peter L. Strick et al.   Annual Review of Neuroscience

The Ataxic Cacna1a-Mutant Mouse Rolling Nagoya: An Overview of Neuromorphological and Electrophysiological Findings

(2009) Jaap J. Plomp et al.   CEREBELLUM

Animal Models of Human Cerebellar Ataxias: a Cornerstone for the Therapies of the Twenty-First Century

(2009) Mario Manto et al.   CEREBELLUM

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

Activation of native TRPC3 cation channels by phospholipase D

(2009) Maike D. Glitsch   FASEB JOURNAL

The Spinocerebellar Ataxias

(2009) Henry L Paulson   JOURNAL OF NEURO-OPHTHALMOLOGY

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

(2009) Peter O. Bauer et al.   JOURNAL OF NEUROCHEMISTRY

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia

(2009) Pia Irene Anna Rossi et al.   JOURNAL OF NEUROLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

The N-Terminal Domain of GluD2 (GluR 2) Recruits Presynaptic Terminals and Regulates Synaptogenesis in the Cerebellum In Vivo

(2009) W. Kakegawa et al.   JOURNAL OF NEUROSCIENCE

Functional Coupling between mGluR1 and Cav3.1 T-Type Calcium Channels Contributes to Parallel Fiber-Induced Fast Calcium Signaling within Purkinje Cell Dendritic Spines

(2009) M. E. Hildebrand et al.   JOURNAL OF NEUROSCIENCE

Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model

(2009) S. Chintawar et al.   JOURNAL OF NEUROSCIENCE

Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis

(2009) Amitabh Gupta et al.   PARKINSONISM & RELATED DISORDERS

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

The amino-terminal domain of glutamate receptor δ2 triggers presynaptic differentiation

(2008) Takeshi Uemura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Loss of Purkinje cells in the PKCγ H101Y transgenic mouse

(2008) Yunong Zhang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spinocerebellar ataxias caused by polyglutamine expansions: A review of therapeutic strategies

(2008) Benjamin R. Underwood et al.   CEREBELLUM

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Molecular Genetics and Biomarkers of Polyglutamine Diseases

(2008) Masahisa Katsuno et al.   CURRENT MOLECULAR MEDICINE

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

PKC  mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling

(2008) D. S. Verbeek et al.   JOURNAL OF CELL SCIENCE

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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

To Gate or not to Gate: Are the Delta Subunits in the Glutamate Receptor Family Functional Ion Channels?

(2008) Sabine M. Schmid et al.   MOLECULAR NEUROBIOLOGY

Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation

(2008) An-Hsun Chou et al.   NEUROBIOLOGY OF DISEASE

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

(2008) K. Hara et al.   NEUROLOGY

TRPC3 Channels Are Required for Synaptic Transmission and Motor Coordination

(2008) Jana Hartmann et al.   NEURON

Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies

(2008) T. Miki et al.   NEUROSCIENCE

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

(2008) K. Watase et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA