Cellular and circuit mechanisms underlying spinocerebellar ataxias

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+Pump Impairs Cellular Ca2+Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

(2015) Tito Calì et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Spinocerebellar Ataxia Type 6 Protein Aggregates Cause Deficits in Motor Learning and Cerebellar Plasticity

(2015) M. D. Mark et al.   JOURNAL OF NEUROSCIENCE

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability

(2015) J. M. Dell'Orco et al.   JOURNAL OF NEUROSCIENCE

Circuit Mechanisms Underlying Motor Memory Formation in the Cerebellum

(2015) Ka Hung Lee et al.   NEURON

Precise Control of Movement Kinematics by Optogenetic Inhibition of Purkinje Cell Activity

(2014) S. A. Heiney et al.   JOURNAL OF NEUROSCIENCE

Mutant  -III Spectrin Causes mGluR1  Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

(2014) K. R. Armbrust et al.   JOURNAL OF NEUROSCIENCE

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

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

Cerebellar modules operate at different frequencies

(2014) Haibo Zhou et al.   eLife

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

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

Toxic RNA as a driver of disease in a common form of ALS and dementia

(2013) H. T. Orr   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1

(2013) Serena Notartomaso et al.   Molecular Brain

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

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

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

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

(2012) L. T. Gehman et al.   GENES & DEVELOPMENT

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

Effects of Climbing Fiber Driven Inhibition on Purkinje Neuron Spiking

(2012) P. J. Mathews 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

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

(2012) G. Zanni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Suppression of Calbindin-D28k Expression Exacerbates SCA1 Phenotype in a Disease Mouse Model

(2011) Parminder J.S. Vig et al.   CEREBELLUM

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

(2011) R. Hourez 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

mGluR1/TRPC3-mediated Synaptic Transmission and Calcium Signaling in Mammalian Central Neurons

(2011) J. Hartmann et al.   Cold Spring Harbor Perspectives in Biology

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

Reduced expression of the Ca2+transporter protein PMCA2 slows Ca2+dynamics in mouse cerebellar Purkinje neurones and alters the precision of motor coordination

(2010) Ruth M. Empson et al.   JOURNAL OF PHYSIOLOGY-LONDON

Emerging pathogenic pathways in the spinocerebellar ataxias

(2009) Kerri M Carlson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Spinocerebellar Ataxias

(2009) Henry L Paulson   JOURNAL OF NEURO-OPHTHALMOLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

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

Order-Dependent Coincidence Detection in Cerebellar Purkinje Neurons at the Inositol Trisphosphate Receptor

(2008) D. V. Sarkisov et al.   JOURNAL OF NEUROSCIENCE

TRPC3 Channels Are Required for Synaptic Transmission and Motor Coordination

(2008) Jana Hartmann et al.   NEURON