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American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.Nature Cell Biology|February 21, 2025
Growth factor-triggered de-sialylation controls glycolipid-lectin-driven endocytosisEwan MacDonald, Alison Forrester, Cesar A Valades-Cruz, et al.Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.Cellular and Molecular Gastroenterology and Hepatology|October 9, 2021
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115Lars E Larsen, Marjolein A W van den Boogert, Wilson A Rios-Ocampo, et al.Journal of Inherited Metabolic Disease|September 11, 2022
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficitTessa M A Peters, Jona Merx, Pieter C Kooijman, et al.Science Advances|June 30, 2023
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and functionAfitz Da Silva, Junio Dort, Zakaria Orfi, et al.Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.Circulation|May 24, 2019
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor ExpressionMarjolein A W van den Boogert, Lars E Larsen, Lubna Ali, et al.Pageof 17