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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco K, St-Louis JL, Hovland HN, Thompson N, Ottesen Å, Choi MH, Pedersen L, Njølstad PR, Arnesen T, Fjeld K, Aukrust I, Myklebust LM, Molven A. Velasco K, et al. Among authors: choi mh. J Inherit Metab Dis. 2021 Jan;44(1):240-252. doi: 10.1002/jimd.12309. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32876354
The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants.
El Jellas K, Johansson BB, Fjeld K, Antonopoulos A, Immervoll H, Choi MH, Hoem D, Lowe ME, Lombardo D, Njølstad PR, Dell A, Mas E, Haslam SM, Molven A. El Jellas K, et al. Among authors: choi mh. J Biol Chem. 2018 Dec 14;293(50):19476-19491. doi: 10.1074/jbc.RA118.001934. Epub 2018 Oct 12. J Biol Chem. 2018. PMID: 30315106 Free PMC article.
803 results