Associated Papers
Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation.
Donati S et al.
Genes, 2025
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Francisco R et al.
Orphanet Journal of Rare Diseases, 2023
37858231 (PubMed )
Supplement: 13023_2023_2879_MOESM1_ESM.xlsx › Supplementary_Table_1
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Hassan N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.
Kato K et al.
Molecules (basel, Switzerland), 2021
Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.
Boyce AM et al.
Frontiers in Endocrinology, 2020
Functional control of polypeptide GalNAc-transferase 3 through an acetylation site in the C-terminal lectin domain.
Lorenz V et al.
Biological Chemistry, 2017
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y et al.
Current Osteoporosis Reports, 2017
N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
Esapa CT et al.
Plos One, 2015
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 2012
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Duncan EL et al.
Plos Genetics, 2011
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