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

Human Molecular Genetics

Volumn 20, Issue 16, 2011, Pages 3266-3277

  López Hernández, Tania ^a   Sirisi, Sònia ^a,d   Capdevila Nortes, Xavier ^a   Montolio, Marisol ^a,e   Fernández Dueñas, Victor ^c   Scheper, Gert C ^g   van der Knaap, Marjo S ^g   Casquero, Pilar ^h   Ciruela, Francisco ^c   Ferrer, Isidre ^b,f   Nunes, Virginia ^b,d,f   Estévez, Raúl ^a,e  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c Facultat de Medicina   (Spain)

^d BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^e U 750   (Spain)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h Hospital Mateu Orfila   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ASTROCYTE; BRAIN; BRAIN CYST; CASE REPORT; CELL JUNCTION; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MOLECULAR MECHANICS; PRIORITY JOURNAL;

ADULT; ANIMALS; ASTROCYTES; BRAIN; CYSTS; FATAL OUTCOME; FEMALE; HEK293 CELLS; HELA CELLS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MUTANT PROTEINS; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, QUATERNARY; PROTEIN TRANSPORT; PROTEINS; RATS; RNA INTERFERENCE; TRANSFECTION;

EID: 79960776942     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr238     Document Type: Article

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