Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation-Reference-Cited by-同舟云学术

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

Published:2014-02 Issue:2 Volume:94 Page:278-287
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Howard Malcolm F.,Murakami Yoshiko,Pagnamenta Alistair T.,Daumer-Haas Cornelia,Fischer Björn,Hecht Jochen,Keays David A.,Knight Samantha J.L.,Kölsch Uwe,Krüger Ulrike,Leiz Steffen,Maeda Yusuke,Mitchell Daphne,Mundlos Stefan,Phillips John A.,Robinson Peter N.,Kini Usha,Taylor Jenny C.,Horn Denise,Kinoshita Taroh,Krawitz Peter M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

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2. Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly;McKean;Biol. Open,2012

3. GDE2 promotes neurogenesis by glycosylphosphatidylinositol-anchor cleavage of RECK;Park;Science,2013

4. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!;Jaeken;J. Inherit. Metab. Dis.,2011

5. Developmental abnormalities of glycosylphosphatidylinositol-anchor-deficient embryos revealed by Cre/loxP system;Nozaki;Lab. Invest.,1999

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