The UDP-glycosyltransferase (UGT) superfamily: new members, new functions, and novel paradigms
UDP-glycosyltransferases (UGTs) catalyze the covalent addition of sugars to a broad range
of lipophilic molecules. This biotransformation plays a critical role in elimination of a broad …
of lipophilic molecules. This biotransformation plays a critical role in elimination of a broad …
Notch signaling and the skeleton
S Zanotti, E Canalis - Endocrine reviews, 2016 - academic.oup.com
Notch 1 to 4 receptors are important determinants of cell fate and function, and Notch
signaling plays an important role in skeletal development and bone remodeling. After direct …
signaling plays an important role in skeletal development and bone remodeling. After direct …
Solving glycosylation disorders: fundamental approaches reveal complicated pathways
Over 100 human genetic disorders result from mutations in glycosylation-related genes. In
2013, a new glycosylation disorder was reported every 17 days. This trend will probably …
2013, a new glycosylation disorder was reported every 17 days. This trend will probably …
The developmental biology of genetic Notch disorders
J Mašek, ER Andersson - Development, 2017 - journals.biologists.com
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …
Dock-family exchange factors in cell migration and disease
Dock family proteins are evolutionary conserved exchange factors for the Rho GTPases Rac
and Cdc42. There are 11 Dock proteins in mammals, named Dock1 (or Dock180) to Dock11 …
and Cdc42. There are 11 Dock proteins in mammals, named Dock1 (or Dock180) to Dock11 …
Mutations in NOTCH1 cause Adams-Oliver syndrome
AB Stittrich, A Lehman, DL Bodian, J Ashworth… - The American Journal of …, 2014 - cell.com
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular
eukaryotes. Despite the involvement of Notch in many key developmental systems, human …
eukaryotes. Despite the involvement of Notch in many key developmental systems, human …
Significance of glycosylation in Notch signaling
H Takeuchi, RS Haltiwanger - Biochemical and biophysical research …, 2014 - Elsevier
Notch signaling is essential for cell-fate specification in metazoans, and dysregulation of the
pathway leads to a variety of human diseases including heart and vascular defects as well …
pathway leads to a variety of human diseases including heart and vascular defects as well …
Adams–Oliver syndrome review of the literature: refining the diagnostic phenotype
S Hassed, S Li, J Mulvihill, C Aston… - American Journal of …, 2017 - Wiley Online Library
The Adams–Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with
transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well …
transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well …
Notch in skeletal physiology and disease
E Canalis - Osteoporosis International, 2018 - Springer
Abstract Notch (Notch1 through 4) are transmembrane receptors that play a fundamental
role in cell differentiation and function. Notch receptors are activated following interactions …
role in cell differentiation and function. Notch receptors are activated following interactions …