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Article

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

Journal of inherited metabolic disease - 1 Nov 2016

Hörtnagel Konstanze, Krägeloh-Mann Inge, Bornemann Antje, Döcker Miriam, Biskup Saskia, Mayrhofer Heidi, Battke Florian, du Bois Gabriele, Harzer Klaus

Abstract excerpt

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 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe...

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Identifiers

PMID: 27473128
DOI: 10.1007/s10545-016-9961-x
PMCID: PMC5065605

Genes

VPS11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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