Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency-Reference-Cited by-同舟云学术

Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency

Published:2014-11 Issue:46 Volume:289 Page:32010-32019
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Lee Yingying,Stiers Kyle M.,Kain Bailee N.,Beamer Lesa J.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference32 articles.

1. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene;Pérez;J. Inherit. Metab. Dis,2013

2. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing;Timal;Hum. Mol. Genet,2012

3. Multiple phenotypes in phosphoglucomutase 1 deficiency;Tegtmeyer;N. Engl. J. Med,2014

4. Muscle glycogenosis due to phosphoglucomutase 1 deficiency;Stojkovic;N. Engl. J. Med,2009

5. Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient;Ondruskova;Neuro. Endocrinol. Lett,2014

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