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JCI Insight|December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle functionXiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.Clinical Genetics|January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in SpainCelia Medrano, Ana Vega, Rosa Navarrete, et al.American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.Human Molecular Genetics|June 8, 2018
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylationAngel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, et al.Pageof 17