Regulation and function of the FGF23/klotho endocrine pathways

A Martin, V David, LD Quarles - Physiological reviews, 2012 - journals.physiology.org
Calcium (Ca2+) and phosphate (PO43−) homeostasis are coordinated by systemic and local
factors that regulate intestinal absorption, influx and efflux from bone, and kidney excretion …

Site-specific protein O-glycosylation modulates proprotein processing—deciphering specific functions of the large polypeptide GalNAc-transferase gene family

TBGS Katrine, H Clausen - Biochimica et Biophysica Acta (BBA)-General …, 2012 - Elsevier
BACKGROUND: Posttranslational modifications (PTMs) greatly expand the function and
regulation of proteins, and glycosylation is the most abundant and diverse PTM. Of the many …

Recent insights into the biological roles of mucin-type O-glycosylation

E Tian, KG Ten Hagen - Glycoconjugate journal, 2009 - Springer
In this special issue of the Glycoconjugate Journal focusing on glycosciences and
development, we summarize recent advances in our understanding of the role of mucin-type …

Novel regulators of Fgf23 expression and mineralization in Hyp bone

S Liu, W Tang, J Fang, J Ren, H Li, Z Xiao… - Molecular …, 2009 - academic.oup.com
We used gene array analysis of cortical bone to identify Phex-dependent gene transcripts
associated with abnormal Fgf23 production and mineralization in Hyp mice. We found …

Initiation of protein O glycosylation by the polypeptide GalNAcT-1 in vascular biology and humoral immunity

M Tenno, K Ohtsubo, FK Hagen, D Ditto… - … and Cellular Biology, 2007 - Taylor & Francis
Core-type protein O glycosylation is initiated by polypeptide N-acetylgalactosamine
(GalNAc) transferase (ppGalNAcT) activity and produces the covalent linkage of serine and …

[HTML][HTML] Glycosylation diseases: quo vadis?

H Schachter, HH Freeze - Biochimica et Biophysica Acta (BBA)-Molecular …, 2009 - Elsevier
About 250 to 500 glycogenes (genes that are directly involved in glycan metabolism) are in
the human genome representing about 1–2% of the total genome. Over 40 human …

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

S Ichikawa, G Baujat, A Seyahi… - American journal of …, 2010 - Wiley Online Library
The GALNT3 gene encodes GalNAc‐T3, which prevents degradation of the phosphaturic
hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 …

[HTML][HTML] Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification

E Sprecher - Journal of investigative dermatology, 2010 - Elsevier
Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders
characterized by the occurrence of cutaneous and subcutaneous calcified masses. Two …

Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals

K Kato, L Hansen, H Clausen - Molecules, 2021 - mdpi.com
Mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-
acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in …

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a …

S Rafaelsen, S Johansson, H Ræder, R Bjerknes - BMC genetics, 2014 - Springer
Abstract Background Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and
Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal …