Article
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Diabetes - 1 Apr 2013
Thanabalasingham Gaya, Huffman Jennifer E, Kattla Jayesh J, Novokmet Mislav, Rudan Igor, Gloyn Anna L, Hayward Caroline, Adamczyk Barbara, Reynolds Rebecca M, Muzinic Ana, Hassanali Neelam, Pucic Maja, Bennett Amanda J, Essafi Abdelkader, Polasek Ozren, Mughal Saima A, Redzic Irma, Primorac Dragan, Zgaga Lina, Kolcic Ivana, Hansen Torben, Gasperikova Daniela, Tjora Erling, Strachan Mark W J, Nielsen Trine, Stanik Juraj, Klimes Iwar, Pedersen Oluf B, Njølstad Pål R, Wild Sarah H, Gyllensten Ulf, Gornik Olga, Wilson James F, Hastie Nicholas D, Campbell Harry, McCarthy Mark I, Rudd Pauline M, Owen Katharine R, Lauc Gordan, Wright Alan F
Abstract excerpt
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A-MODY. In a pilot comparison...
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