Genetic defects disrupting glial ion and water homeostasis in the brain
Published 2018 View Full Article
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Title
Genetic defects disrupting glial ion and water homeostasis in the brain
Authors
Keywords
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Journal
BRAIN PATHOLOGY
Volume 28, Issue 3, Pages 372-387
Publisher
Wiley
Online
2018-05-09
DOI
10.1111/bpa.12602
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Note: Only part of the references are listed.- Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts
- (2018) Mohit Dubey et al. ANNALS OF NEUROLOGY
- Diversity of astrocyte potassium channels: An update
- (2018) Gerald Seifert et al. BRAIN RESEARCH BULLETIN
- The α2β2 isoform combination dominates the astrocytic Na+ /K+ -ATPase activity and is rendered nonfunctional by the α2.G301R familial hemiplegic migraine type 2-associated mutation
- (2017) Anca Stoica et al. GLIA
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- (2017) Brian Roland Larsen et al. GLIA
- A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
- (2017) Elisa Giorgio et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Turning down the volume: Astrocyte volume change in the generation and termination of epileptic seizures
- (2017) Thomas R. Murphy et al. NEUROBIOLOGY OF DISEASE
- Neural Circuit-Specialized Astrocytes: Transcriptomic, Proteomic, Morphological, and Functional Evidence
- (2017) Hua Chai et al. NEURON
- An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2
- (2017) Colin Wilbur et al. PEDIATRIC NEUROLOGY
- Connexins and Disease
- (2017) Mario Delmar et al. Cold Spring Harbor Perspectives in Biology
- Megalencephalic leukoencephalopathy with cysts: the Glialcam -null mouse model
- (2017) Marianna Bugiani et al. Annals of Clinical and Translational Neurology
- Genetic Variants Associated with Episodic Ataxia in Korea
- (2017) Kwang-Dong Choi et al. Scientific Reports
- LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength
- (2016) Ruhma Syeda et al. CELL
- Defective glutamate and K+clearance by cortical astrocytes in familial hemiplegic migraine type 2
- (2016) Clizia Capuani et al. EMBO Molecular Medicine
- Connexin-based channels contribute to metabolic pathways in the oligodendroglial lineage
- (2016) Jianqin Niu et al. JOURNAL OF CELL SCIENCE
- VRACs and other ion channels and transporters in the regulation of cell volume and beyond
- (2016) Thomas J. Jentsch NATURE REVIEWS MOLECULAR CELL BIOLOGY
- HepaCAM associates with connexin 43 and enhances its localization in cellular junctions
- (2016) Meihui Wu et al. Scientific Reports
- Insights into the Pathology of the α2-Na+/K+-ATPase in Neurological Disorders; Lessons from Animal Models
- (2016) Toke J. Isaksen et al. Frontiers in Physiology
- Managing Brain Extracellular K+ during Neuronal Activity: The Physiological Role of the Na+/K+-ATPase Subunit Isoforms
- (2016) Brian Roland Larsen et al. Frontiers in Physiology
- Insights into the Pathology of the α3 Na+/K+-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models
- (2016) Thomas H. Holm et al. Frontiers in Physiology
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- (2016) Federico Sicca et al. Scientific Reports
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- (2015) A. O. Jo et al. JOURNAL OF NEUROSCIENCE
- Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations
- (2015) D. Tonduti et al. NEUROLOGY
- MLC1 protein: a likely link between leukodystrophies and brain channelopathies
- (2015) Maria S. Brignone et al. Frontiers in Cellular Neuroscience
- Role of Astrocytes in Epilepsy
- (2015) D. A. Coulter et al. Cold Spring Harbor Perspectives in Medicine
- Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle
- (2014) Mohit Dubey et al. ANNALS OF NEUROLOGY
- Deletion of aquaporin-4 increases extracellular K+ concentration during synaptic stimulation in mouse hippocampus
- (2014) Nadia Nabil Haj-Yasein et al. Brain Structure & Function
- SWELL1, a Plasma Membrane Protein, Is an Essential Component of Volume-Regulated Anion Channel
- (2014) Zhaozhu Qiu et al. CELL
- GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems
- (2014) Charles K. Abrams et al. CELL AND TISSUE RESEARCH
- Contributions of the Na+/K+-ATPase, NKCC1, and Kir4.1 to hippocampal K+clearance and volume responses
- (2014) Brian Roland Larsen et al. GLIA
- Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans
- (2014) Sònia Sirisi et al. HUMAN MOLECULAR GENETICS
- A new mutation in GJC2 associated with subclinical leukodystrophy
- (2014) Charles K. Abrams et al. JOURNAL OF NEUROLOGY
- Aquaporins: important but elusive drug targets
- (2014) Alan S. Verkman et al. NATURE REVIEWS DRUG DISCOVERY
- Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation
- (2014) D. Di Bella et al. NEUROLOGY
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- (2014) F. K. Voss et al. SCIENCE
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- (2014) Maja B. Hoegg-Beiler et al. Nature Communications
- Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
- (2013) Farid Radmanesh et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) J Helen Cross et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
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- (2013) Xavier Capdevila-Nortes et al. HUMAN MOLECULAR GENETICS
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- (2013) Bashaer Al-Bulushi et al. JOURNAL OF CHILD NEUROLOGY
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- (2013) Christel Depienne et al. LANCET NEUROLOGY
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- (2013) Erlend A. Nagelhus et al. PHYSIOLOGICAL REVIEWS
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- Glial-conditional deletion of aquaporin-4 (Aqp4) reduces blood-brain water uptake and confers barrier function on perivascular astrocyte endfeet
- (2011) N. N. Haj-Yasein et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2011) V. Benfenati et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans
- (2011) Oliver Tress et al. PLoS Genetics
- Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2
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- (2010) Pernille Bøttger et al. JOURNAL OF COMPARATIVE NEUROLOGY
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- (2010) O. Chever et al. JOURNAL OF NEUROSCIENCE
- Astroglial networks: a step further in neuroglial and gliovascular interactions
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- KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
- (2010) M. Reichold et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deletion of Astrocyte Connexins 43 and 30 Leads to a Dysmyelinating Phenotype and Hippocampal CA1 Vacuolation
- (2009) S. E. Lutz et al. JOURNAL OF NEUROSCIENCE
- Persistent CNS dysfunction in a boy with CMT1X
- (2009) Carly Siskind et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy
- (2009) María I Niemeyer et al. NATURE GENETICS
- Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system
- (2009) J.E. Rash NEUROSCIENCE
- Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations
- (2009) Detlef Bockenhauer et al. NEW ENGLAND JOURNAL OF MEDICINE
- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
- (2009) U. I. Scholl et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
- (2008) Emma Clement et al. ANNALS OF NEUROLOGY
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
- (2008) Jennifer L. Orthmann-Murphy et al. BRAIN
- GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system
- (2008) Linda Favre-Kontula et al. GLIA
- Novel variants in human Aquaporin-4 reduce cellular water permeability
- (2008) M. D. Sorani et al. HUMAN MOLECULAR GENETICS
- Astroglial Metabolic Networks Sustain Hippocampal Synaptic Transmission
- (2008) N. Rouach et al. SCIENCE
- Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin–glycoprotein complex
- (2007) Elena Ambrosini et al. MOLECULAR AND CELLULAR NEUROSCIENCE
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