The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11...

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Detalles Bibliográficos
Autores principales: Hörtnagel, Konstanze, Krägeloh-Mann, Inge, Bornemann, Antje, Döcker, Miriam, Biskup, Saskia, Mayrhofer, Heidi, Battke, Florian, du Bois, Gabriele, Harzer, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065605/
https://www.ncbi.nlm.nih.gov/pubmed/27473128
http://dx.doi.org/10.1007/s10545-016-9961-x

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