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

Human Molecular Genetics

Volumn 21, Issue 10, 2012, Pages 2166-2180

  Lanciotti, Angela ^a   Brignone, Maria S ^a   Molinari, Paola ^a   Visentin, Sergio ^a   De Nuccio, Chiara ^a   Macchia, Gianfranco ^a   Aiello, Chiara ^b   Bertini, Enrico ^b   Aloisi, Francesca ^a   Petrucci, Tamara C ^a   Ambrosini, Elena ^a  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); AQUAPORIN 4; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR4.1; POTASSIUM CHANNEL; PROTEIN MLC1; SYNTROPHIN; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 4;

ARTICLE; ASTROCYTE; ASTROCYTOMA CELL; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; LEUKODYSTROPHY; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MLC1 GENE; OSMOTIC STRESS; PRIORITY JOURNAL;

ASTROCYTES; CALCIUM; CATIONS, DIVALENT; CYSTS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MEMBRANE PROTEINS; MUTATION; OSMOSIS; TRANSFECTION; TRPV CATION CHANNELS;

EID: 84860446923     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds032     Document Type: Article

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