(Q38791524)

6 September 2017

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes (English)

1 reference

megalencephalic leukoencephalopathy with subcortical cysts

6 September 2017

0 references

1 reference

1 reference

9

0 references

Chiara De Nuccio

4

0 references

Gaetana Minnone

Gaetana Minnone

10

0 references

Maria Stefania Brignone

Maria Stefania Brignone

2

0 references

Elena Ambrosini

Elena Ambrosini

16

0 references

Luigi Catacuzzeno

Luigi Catacuzzeno

5

0 references

Sergio Visentin

Sergio Visentin

3

0 references

Cinzia Mallozzi

Cinzia Mallozzi

6

0 references

Stefania Petrini

Stefania Petrini

7

0 references

Mauro Pessia

Mauro Pessia

13

0 references

Enrico Bertini

Enrico Bertini

14

0 references

Angela Lanciotti

1

Angela Lanciotti

1 reference

6 September 2017

Tamara Corinna Petrucci

15

Tamara Corinna Petrucci

1 reference

6 September 2017

Martino Caramia

8

1 reference

6 September 2017

Antonietta Bernardo

11

1 reference

6 September 2017

Fabio Franciolini

12

1 reference

6 September 2017

9 February 2016

1 reference

6 September 2017

Human Molecular Genetics

1 reference

6 September 2017

25

1 reference

6 September 2017

8

1 reference

6 September 2017

1543-1558

1 reference

Astrocytes: biology and pathology

6 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Antisense oligonucleotide mediated therapy of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Megalencephalic Leukoencephalopathy With Subcortical Cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Expression patterns of MLC1 protein in the central and peripheral nervous systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

MLC1: a novel protein in distal astroglial processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Making sense of Wnt signaling-linking hair cell regeneration to development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Cell volume regulatory ion channels in cell proliferation and cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Astrocytes and disease: a neurodevelopmental perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Developmental maturation of astrocytes and pathogenesis of neurodevelopmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Suppression of EGFR expression by antisense or small interference RNA inhibits U251 glioma cell growth in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Constitutive and ligand-induced EGFR signalling triggers distinct and mutually exclusive downstream signalling networks.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Interdependent epidermal growth factor receptor signalling and trafficking.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Lipid rafts, KCa/ClCa/Ca2+ channel complexes and EGFR signaling: Novel targets to reduce tumor development by lipids?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Compartmentalization of EGFR in cellular membranes: role of membrane rafts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

EGF activates intracellular and intercellular calcium signaling by distinct pathways in tumor cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

TRPC1 protein channel is major regulator of epidermal growth factor receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

HB-EGF affects astrocyte morphology, proliferation, differentiation, and the expression of intermediate filament proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Intermediate-conductance calcium-activated potassium channels participate in neurovascular coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Expression and modulation of the intermediate- conductance Ca2+-activated K+ channel in glioblastoma GL-15 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Histamine hyperpolarizes human glioblastoma cells by activating the intermediate-conductance Ca2+-activated K+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

The inhibition of KCa3.1 channels activity reduces cell motility in glioblastoma derived cancer stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

KCa3.1 channels are involved in the infiltrative behavior of glioblastoma in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

EGF receptor trafficking: consequences for signaling and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Bif-1 suppresses breast cancer cell migration by promoting EGFR endocytic degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Endosomal acidification by Na+/H+ exchanger NHE5 regulates TrkA cell-surface targeting and NGF-induced PI3K signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Leucine-rich repeat kinase LRRK1 regulates endosomal trafficking of the EGF receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Clathrin-mediated internalization is essential for sustained EGFR signaling but dispensable for degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Induction of COX-2 and reactive gliosis by P2Y receptors in rat cortical astrocytes is dependent on ERK1/2 but independent of calcium signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Type I interferon inhibits astrocytic gliosis and promotes functional recovery after spinal cord injury by deactivation of the MEK/ERK pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Antagonistic regulation of swelling-activated Cl- current in rabbit ventricle by Src and EGFR protein tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Epidermal growth factor receptor is a common element in the signaling pathways activated by cell volume changes in isosmotic, hyposmotic or hyperosmotic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Epidermal growth factor receptor is activated by hyposmolarity and is an early signal modulating osmolyte efflux pathways in Swiss 3T3 fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Astrocyte ERK phosphorylation precedes K(+)-induced swelling but follows hypotonicity-induced swelling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Activation of H2O2-induced VSOR Cl- currents in HTC cells require phospholipase Cgamma1 phosphorylation and Ca2+ mobilisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Mechanism of calcium gating in small-conductance calcium-activated potassium channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Up-regulation of the IKCa1 potassium channel during T-cell activation. Molecular mechanism and functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Targeted inhibition of KCa3.1 attenuates TGF-β-induced reactive astrogliosis through the Smad2/3 signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Epidermal growth factor receptor activation: an upstream signal for transition of quiescent astrocytes into reactive astrocytes after neural injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Activation of epidermal growth factor receptors in astrocytes: from development to neural injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

HepaCAM induces G1 phase arrest and promotes c-Myc degradation in human renal cell carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Renal tumor-derived exosomes inhibit hepaCAM expression of renal carcinoma cells in a p-AKT-dependent manner.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Reactive gliosis and the multicellular response to CNS damage and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

The dual role of astrocyte activation and reactive gliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

The Rheb-mTOR pathway is upregulated in reactive astrocytes of the injured spinal cord.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Ammonia-induced Na,K-ATPase/ouabain-mediated EGF receptor transactivation, MAPK/ERK and PI3K/AKT signaling and ROS formation cause astrocyte swelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Naringenin attenuates mucous hypersecretion by modulating reactive oxygen species production and inhibiting NF-κB activity via EGFR-PI3K-Akt/ERK MAPKinase signaling in human airway epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Selective intermediate-/small-conductance calcium-activated potassium channel (KCNN4) blockers are potent and effective therapeutics in experimental brain oedema and traumatic brain injury caused by acute subdural haematoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Blood-brain barrier KCa3.1 channels: evidence for a role in brain Na uptake and edema in ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

Inhibition of HER-2(neu/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

EGF mediates monocyte chemotaxis and macrophage proliferation and EGF receptor is expressed in atherosclerotic plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW032

21 January 2018

Identifiers

DOI

10.1093/HMG/DDW032

1 reference

6 September 2017

1 reference