ESPE Yearbook of Paediatric Endocrinology

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34115219/In brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

Cell. 2018; 175(2): 514–29 e20.URL: http://www.ncbi.nlm.nih.gov/pubmed/30220461Summary: The enigma of how cholesterol is transported within cells has been solved in these experimental mouse models and structural imaging studies by the discovery of the proteins Aster A, B and C, which serve as a molecular bridge for the transfer of cholesterol from the pl...

To read the full abstract: Dev Cell. 2018 Nov 5;47(3):294–305.e7.Steroid hormones were believed to enter target cells via passive diffusion through the plasma membrane. This article shows that, at least for Drosophila, steroid hormones require a protein transporter to enter cells.Genomic functions of steroid hormones are mediated by intracellular nuclear recep...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...