Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

Molecular Mechanisms and Therapeutics for SCA17

(2019) Qiong Liu et al.   Neurotherapeutics

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

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

CRISPR/Cas9-mediated gene editing ameliorates neurotoxicity in mouse model of Huntington’s disease

(2017) Su Yang et al.   JOURNAL OF CLINICAL INVESTIGATION

IP3 receptor mutations and brain diseases in human and rodents

(2017) Chihiro Hisatsune et al.   JOURNAL OF NEUROCHEMISTRY

Mutant Huntingtin Inhibits αB-Crystallin Expression and Impairs Exosome Secretion from Astrocytes

(2017) Yan Hong et al.   JOURNAL OF NEUROSCIENCE

Differential HspBP1 expression accounts for the greater vulnerability of neurons than astrocytes to misfolded proteins

(2017) Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Inositol Trisphosphate/Calcium Signaling Pathway in Health and Disease

(2016) Michael J. Berridge   PHYSIOLOGICAL REVIEWS

The JAK/STAT3 Pathway Is a Common Inducer of Astrocyte Reactivity in Alzheimer's and Huntington's Diseases

(2015) L. Ben Haim et al.   JOURNAL OF NEUROSCIENCE

Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice

(2015) Andy W. Yang et al.   NEUROGENETICS

Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice

(2015) Shanshan Huang et al.   Cell Reports

Huntington disease

(2015) Gillian P. Bates et al.   Nature Reviews Disease Primers

CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling

(2014) Randall J. Platt et al.   CELL

Age-Dependent Decrease in Chaperone Activity Impairs MANF Expression, Leading to Purkinje Cell Degeneration in Inducible SCA17 Mice

(2014) Su Yang et al.   NEURON

Impact of Genetic Background on Neonatal Lethality of Gga2 Gene-Trap Mice

(2014) Balraj Doray et al.   G3-Genes Genomes Genetics

Neuropathological Alterations in Alzheimer Disease

(2013) A. Serrano-Pozo et al.   Cold Spring Harbor Perspectives in Medicine

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

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

(2011) Smita Saxena et al.   NEURON

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

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

(2009) Lisa M. Ooms et al.   BIOCHEMICAL JOURNAL

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17

(2009) A. G. Shah et al.   HUMAN MOLECULAR GENETICS

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY