(Q24305183)

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

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scholarly article

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations (English)

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megalencephalic leukoencephalopathy with subcortical cysts

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Modulator of VRAC current 1

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GOA release 2020-03-11

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object named as

Paola Molinari

3

author given names

Paola

author last names

Molinari

1 reference

20 April 2024

Chiara De Nuccio

object named as

Chiara De Nuccio

5

author given names

Chiara

author last names

De Nuccio

1 reference

20 April 2024

object named as

Chiara Aiello

7

author given names

Chiara

author last names

Aiello

1 reference

20 April 2024

Elena Ambrosini

object named as

Elena Ambrosini

11

author given names

Elena

author last names

Ambrosini

1 reference

20 April 2024

Sergio Visentin

object named as

Sergio Visentin

4

author given names

Sergio

author last names

Visentin

1 reference

20 April 2024

Francesca Aloisi

object named as

Francesca Aloisi

9

author given names

Francesca

author last names

Aloisi

1 reference

20 April 2024

object named as

Enrico Bertini

8

author given names

Enrico

author last names

Bertini

1 reference

20 April 2024

Angela Lanciotti

1

object named as

Angela Lanciotti

author given names

Angela

author last names

Lanciotti

1 reference

20 April 2024

Tamara C Petrucci

10

object named as

Tamara C Petrucci

author given names

Tamara C

author last names

Petrucci

1 reference

20 April 2024

author name string

Maria S Brignone

2

author given names

Maria S

author last names

Brignone

1 reference

20 April 2024

Gianfranco Macchia

6

author given names

Gianfranco

author last names

Macchia

1 reference

20 April 2024

language of work or name

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publication date

15 May 2012

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Human Molecular Genetics

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21

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10

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2166-80

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Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

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21 January 2018

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

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Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings.

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Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

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21 January 2018

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

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21 January 2018

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

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Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

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21 January 2018

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

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21 January 2018

MLC1: a novel protein in distal astroglial processes

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Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

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21 January 2018

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

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Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex

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A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

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21 January 2018

The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

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21 January 2018

Astrocytes: biology and pathology

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Functions of mature mammalian astrocytes: a current view

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Dysfunctional astrocytes as key players in the pathogenesis of central nervous system disorders.

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Astrocyte dysfunction in epilepsy.

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A role for glia in the progression of Rett's syndrome

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Deletion of astroglial Dicer causes non-cell-autonomous neuronal dysfunction and degeneration

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Anti-aquaporin-4 antibodies in Devic's neuromyelitis optica: therapeutic implications

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Glia: initiators and progressors of pathology in Parkinson's disease

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Alexander disease: putative mechanisms of an astrocytic encephalopathy

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Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction

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21 January 2018

Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?

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21 January 2018

MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation

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21 January 2018

Mechanisms of cell volume regulation in hypo-osmolality

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21 January 2018

The molecular basis of water transport in the brain

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21 January 2018

Modulation of Na+,K+-ATPase activity is of importance for RVD.

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Modulation of Kir4.1 and Kir4.1-Kir5.1 channels by small changes in cell volume.

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An aquaporin-4/transient receptor potential vanilloid 4 (AQP4/TRPV4) complex is essential for cell-volume control in astrocytes

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21 January 2018

Expression and functional characterization of transient receptor potential vanilloid-related channel 4 (TRPV4) in rat cortical astrocytes.

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Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives

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International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels

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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

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Unexpected roles of the Na-K-ATPase and other ion transporters in cell junctions and tubulogenesis

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OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity

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Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor

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Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cells

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Vertebrate and invertebrate TRPV-like mechanoreceptors

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TRPV4 exhibits a functional role in cell-volume regulation

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Beta-subunit of cardiac Na+-K+-ATPase dictates the concentration of the functional enzyme in caveolae

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Regulation of caveolin-1 membrane trafficking by the Na/K-ATPase.

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Caveolae act as membrane reserves which limit mechanosensitive I(Cl,swell) channel activation during swelling in the rat ventricular myocyte

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Volume-regulated anion conductance in cultured rat cerebral astrocytes requires calmodulin activity

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Beyond the role of glutamate as a neurotransmitter

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Contribution of organic and inorganic osmolytes to volume regulation in rat brain cells in culture.

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Relative contribution of chloride channels and transporters to regulatory volume decrease in human glioma cells

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Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

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21 January 2018

Functional interaction of the cation channel transient receptor potential vanilloid 4 (TRPV4) and actin in volume regulation

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Glial cells and volume transmission in the CNS.

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Diabetes alters osmotic swelling characteristics and membrane conductance of glial cells in rat retina

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Ocular inflammation alters swelling and membrane characteristics of rat Müller glial cells

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Molecular mechanisms of ischemic cerebral edema: role of electroneutral ion transport.

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Functional complementation of high-efficiency resonance energy transfer: a new tool for the study of protein binding interactions in living cells.

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Heterotypic and homotypic cellular interactions influencing the growth and differentiation of bipotential oligodendrocyte-type-2 astrocyte progenitors in culture

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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

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Female sex hormones inhibit volume regulation in rat brain astrocyte culture

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7 January 2021

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Purification of active Na+-K+-ATPase using a new ouabain-affinity column

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7 January 2021

based on heuristic

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Volume-dependent taurine release from cultured astrocytes requires permissive [Ca(2+)](i) and calmodulin

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS032

7 January 2021

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Influence of calcium on regulatory volume decrease: role of potassium channels

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS032

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Role of calcium in astrocyte volume regulation and in the release of ions and amino acids

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7 January 2021

based on heuristic

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