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

López-Hernández, Tania; Sirisi, Sònia; Capdevila-Nortes, Xavier; Montolio, Marisol; Fernández-Dueñas, Victor; Scheper, Gert C; van der Knaap, Marjo S; Casquero, Pilar; Ciruela, Francisco; Ferrer, Isidre; Nunes, Virginia; Estévez, Raúl

López-Hernández, Tania; Sirisi, Sònia; Capdevila-Nortes, Xavier; Montolio, Marisol; Fernández-Dueñas, Victor; Scheper, Gert C; van der Knaap, Marjo S; Casquero, Pilar; Ciruela, Francisco; Ferrer, Isidre; Nunes, Virginia; Estévez, Raúl.

Affiliation

López-Hernández T; Sección de Fisiología, Idibell-Hospital Universitari de Bellvitge, Hospitalet de LLobregat, Universitat de Barcelona, Barcelona, Spain.

Hum Mol Genet ; 20(16): 3266-77, 2011 Aug 15.

Article in En | MEDLINE | ID: mdl-21624973

Subject(s)

Cysts/genetics; Hereditary Central Nervous System Demyelinating Diseases/genetics; Membrane Proteins/genetics; Mutation/genetics; Proteins/genetics; Adult; Animals; Astrocytes/metabolism; Astrocytes/pathology; Brain/metabolism; Brain/pathology; Cell Cycle Proteins; Cysts/pathology; Fatal Outcome; Female; HEK293 Cells; HeLa Cells; Hereditary Central Nervous System Demyelinating Diseases/pathology; Humans; Middle Aged; Mutant Proteins/metabolism; Protein Binding; Protein Structure, Quaternary; Protein Transport; RNA Interference; Rats; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Hereditary Central Nervous System Demyelinating Diseases / Cysts / Membrane Proteins / Mutation Limits: Adult / Animals / Female / Humans / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2011 Type: Article Affiliation country: Spain

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