The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement-Reference-Cited by-同舟云学术

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

Published:2016-07-29 Issue:6 Volume:39 Page:849-857
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9961-x.pdf

Reference14 articles.

1. Balderhaar HJ, Ungermann C (2013) CORVET and HOPS tethering complexes – coordinators of endosome and lysosome fusion. J Cell Sci 126:1307–13016

2. Barkovich J (2015) Hypomyelinating disorders: an MRI approach. Neurobiol Dis. doi: 10.1016/j.nbd.2015.10.015

3. Biskup S (2010) Molekulargenetische und zytogenetische Diagnostik. Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik. Next-generation sequencing in genetic diagnostics. Laboratoriumsmedizin 34:305–309

4. Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, Shaag A, Ungermann C, Elpeleg O (2015) Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. J Med Genet 52:749–753

5. Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C (2001) Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7. J Biol Chem 276:29393–29402

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