E. Daniel

发表

The interdomain flexible linker of the polypeptide GalNAc transferases dictates their long-range glycosylation preferences

J. Jiménez-Barbero, H. Clausen, G. Jiménez‐Osés, 2017, Nature Communications.

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

H. Freeze, Christina Lam, L. Wolfe, 2022, Journal of inherited metabolic disease.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

H. Freeze, M. He, H. Mora-Montes, 2021, Frontiers in Genetics.

Ser and Thr Acceptor Preferences of the GalNAc-Ts Vary Among Isoenzymes to Modulate Mucin Type O-Glycosylation.

H. Clausen, T. Gerken, A. García-García, 2020, Glycobiology.

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

H. Freeze, M. Shinawi, M. He, 2022, Journal of inherited metabolic disease.

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.

The structure of the colorectal cancer-associated enzyme GalNAc-T12 reveals how nonconserved residues dictate its function

Jeffrey J. Gray, L. Tabak, T. Gerken, 2019, Proceedings of the National Academy of Sciences.