Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1

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dc.contributor.authorMontagna, Giorgia
dc.contributor.authorTeijido Hermida, Óscar
dc.contributor.authorEymard-Pierre, Eleonore
dc.contributor.authorMuraki, Koutarou
dc.contributor.authorCohen, Bruce
dc.contributor.authorLoizzo, Annalivia
dc.contributor.authorGrosso, Pietro
dc.contributor.authorTedeschi, Gioacchino
dc.contributor.authorPalacín, Manuel
dc.contributor.authorBoespflug-Tanguy, Odile
dc.contributor.authorBertini, Enrico
dc.contributor.authorSantorelli, Filippo M.
dc.contributor.authorEstévez, Raúl
dc.contributor.departmentCiencias de la Saludes_ES
dc.contributor.departmentOsasun Zientziakeu
dc.date.accessioned2025-01-29T12:27:57Z
dc.date.available2025-01-29T12:27:57Z
dc.date.issued2006-02-08
dc.date.updated2025-01-29T12:25:00Z
dc.descriptionAcceso cerrado a este documento. No se encuentra disponible para la consulta pública. Depositado en Academica-e para cumplir con los requisitos de evaluación y acreditación académica del autor/a (sexenios, acreditaciones, etc.).es_ES
dc.description.abstractNine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu) - lying in a stretch of seven leucines - were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein.en
dc.description.sponsorshipThis study was supported in part by the Italian Ministry of Health (Ricerca Corrente to E.B.), the Instituto de Salud Carlos III (networks G03/054 and C03/08 to M.P.), the Comissionat per a Universitats I Recerca (M.P.), and by FIS PI04/1680 (R.E.). We also acknowledge the financial support from a grant to study rare diseases of central nervous system (Istituto Superiore di Sanità, to F.M.S.), and a grant to study neurodegenerative diseases (Fundació La Caixa, grant #302005 to M.P. and R.E.). R.E. is a researcher from the Programa Ramón y Cajal of the Spanish Ministry of Science and Technology.
dc.format.mimetypeapplication/pdfen
dc.identifier.citationMontagna, G., Teijido, O., Eymard-Pierre, E., Muraki, K., Cohen, B., Loizzo, A., Grosso, P., Tedeschi, G., Palacín, M., Boespflug-Tanguy, O., Bertini, E., Santorelli, F. M., Estévez, R. (2006) Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Human Mutation, 27(3), 292-292. https://doi.org/10.1002/humu.9407
dc.identifier.doi10.1002/humu.9407
dc.identifier.issn1059-7794
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/53153
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofHuman Mutation, 27(3), 292-292
dc.relation.publisherversionhttps://doi.org/10.1002/humu.9407
dc.rights© 2006 Wiley-Liss, Inc.
dc.rights.accessRightsinfo:eu-repo/semantics/closedAccess
dc.subjectMutation detectionen
dc.subjectMLC1en
dc.subjectLeukodystrophyen
dc.titleVacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1en
dc.typeinfo:eu-repo/semantics/article
dspace.entity.typePublication
relation.isAuthorOfPublication2af87636-fad2-48e3-b5f6-f4a704d93613
relation.isAuthorOfPublication.latestForDiscovery2af87636-fad2-48e3-b5f6-f4a704d93613

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