A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Rethinking diabetic retinopathy: Homeostatic mechanisms for retinal clearance
Diabetic Medicine, EarlyView.In the healthy retina, balanced production and clearance of metabolic waste and fluid maintain retinal homeostasis and normal visual function. Diabetes disrupts this balance, increasing the accumulation of metabolic waste products, including advanced glycation end products (AGEs) and advanced lipoxidation end products (ALEs), while impairing waste and ...
Karis Little +7 more
wiley +1 more source
The sorting nexin Snx21 promotes flotillin‐mediated endocytosis
The FEBS Journal, EarlyView.In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs +9 more
wiley +1 more source
Metabolic Labeling of Inositol Phosphates and Phosphatidylinositols in Yeast and Mammalian Cells. [PDF]
Methods Mol Biol, 2020 Hale AT, Clarke BP, York JD.
europepmc +1 more source
Degradation of inositol phosphates in the gut: comparison between broilers and pigs [PDF]
, 1999 Schlemmer, U.
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Metabolic mRNA insufficiency of single cells: Implications for drug targeting and resistance
The FEBS Journal, EarlyView.Because none of the single‐cell mRNA profiles of growing cell populations encoded any pathway towards cell growth, we used cluster‐averaged transcriptomes to estimate protein‐constrained Vmax's and identify (combinations of) subpopulation‐specific targets to overcome drug resistance. (Graphical Abstract was created in BioRender. Liu, Y. (2026). https://
Yanhua Liu, Hans V. Westerhoff
wiley +1 more source
Sphingolipids and Inositol Phosphates Regulate the Tau Protein Phosphorylation Status in Humanized Yeast. [PDF]
Front Cell Dev Biol, 2020 Randez-Gil F +5 more
europepmc +1 more source
Novel targets in headache: A narrative review
Headache: The Journal of Head and Face Pain, EarlyView.Abstract Objectives/Background This narrative review summarizes novel applications for the use of calcitonin gene‐related peptide (CGRP)‐targeted therapies that go beyond migraine, the latest updates with respect to targeting pituitary adenylate cyclase‐activating peptide (PACAP) as therapeutic in migraine, as well as exploring other more recently ...
Adriana Della Pietra +5 more
wiley +1 more source
International Journal of Cosmetic Science, EarlyView.Cannabis sativa root‐derived extracellular vesicle‐like nanoparticles (CA‐NPs) were isolated from adventitious root cultures and subjected to physicochemical characterization. Upon UVB exposure, keratinocytes exhibited increased ROS generation, apoptosis and MAPK activation, leading to oxidative stress and skin damage.
Dong Ho Bak +5 more
wiley +1 more source
Analysis of Inositol Tri-, Tetra-, Penta- and Hexaphosphates in Oilseeds and different Brassicaceae by HPLC [PDF]
, 1999 Matthäus, Bertrand
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