AlteredPLP1splicing causes hypomyelination of early myelinating structures
Annals of Clinical and Translational Neurology2015Vol. 2(6), pp. 648–661
Citations Over TimeTop 11% of 2015 papers
Sietske H. Kevelam, Jennifer R. Taube, Rosalina M.L. van Spaendonk, Enrico Bertini, Karen Sperle, Mark A. Tarnopolsky, Davide Tonduti, Enza Maria Valente, Lorena Travaglini, Erik A. Sistermans, Geneviève Bernard, Coriene E. Catsman‐Berrevoets, Clara van Karnebeek, John R. Østergaard, Richard L. Friederich, Mahmoud F. Elsaid, Jolanda Schieving, Maja Tarailo‐Graovac, Simona Orcesi, Marjan E. Steenweg, Carola G.M. van Berkel, Quinten Waisfisz, Truus E. M. Abbink, Marjo S. van der Knaap, Grace M. Hobson, Nicole I. Wolf
Abstract
Brain structures that normally myelinate early are poorly myelinated in HEMS, while they are the best myelinated structures in Pelizaeus-Merzbacher disease, also caused by PLP1 alterations. Our data extend the phenotypic spectrum of PLP1-related disorders indicating that normal PLP1/DM20 alternative splicing is essential for early myelination and support the need to include intron 3 in diagnostic sequencing.
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