Int J Mol Sci
JMG, Acetylglucosamine, Animals, Aspartic Acid, Congenital Disorders of Glycosylation, Glycine, Humans, Mice, Muscle Weakness, Mutation, Mutation, Missense, Phosphates, Quality of Life, Retinal Diseases, Uridine Diphosphate
Int J Mol Sci. 2022;23(19)
Research in this publication was supported by the National Eye Institute of the National Institutes of Health under award numbers R01EY011996 to P.M.N., R01EY027305 to P.M.N. and M.P.K., R01EY019943 to B.C., and R01EY028561 to J.K.N., and by The Jackson Laboratory, Director’s Innovation Fund (DIF), award number 19000-13-12. SRR is the recipient of a Career Starter Research Grant Award from the Knights Templar Eye Foundation, Inc. SJF is the recipient of a Research Career Scientist Award (RCSA; IK6 BX005787) from the US Department of Veterans Affairs, BLR&D Service. Supported, in part, by facilities and resources provided by the VA Western NY Healthcare System (SJF, SRR). The authors also wish to acknowledge the support of the JAX Genome Technologies, Histopathology, and Microscopy Services, supported in part by the National Cancer Institute of the National Institutes of Health under award number P30CA034196.
Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple organ systems and vary in presentation, even within families. There is currently no cure, and treatment is aimed at ameliorating symptoms and improving quality of life. Here, we describe a chemically induced mouse mutant,
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice Int J Mol Sci. 2022;23(19)
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