Clinical Genetics, EarlyView.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
PI4-kinase A is essential for survival of the GnRH neurons. [PDF]
Front Endocrinol (Lausanne)Constantin S, Nessa N, Stojilkovic SS.
europepmc +1 more source
Cell Proliferation, EarlyView.Proteomics and functional validation reveal ITGA5 as a dual promoter of epithelial‐mesenchymal transition and anoikis resistance in human bronchial epithelium: targeting ITGA5 represents a novel therapeutic strategy for asthma airway remodelling. ABSTRACT Airway remodelling is a major contributor to persistent airflow limitation and irreversible lung ...
Ting Wang +10 more
wiley +1 more source
Mass spectrometry-based lipid analysis in NPC1 disease: Methods for phosphoinositide quantification, lipid imaging, and myelin lipid profiling. [PDF]
Methods EnzymolPathmasiri KC, Cologna SM.
europepmc +1 more source
CKAP4 Regulates ERS‐Induced Apoptosis in Osteoclasts Through FOXO3 in Periodontitis
Cell Proliferation, EarlyView.CKAP4 promotes the transcription of PERK via FOXO3 in OCs, thereby facilitating ER stress‐induced apoptosis. In periodontitis, the reduction of CKAP4 in OCs leads to decreased OC apoptosis, which exacerbates alveolar bone resorption. ABSTRACT Periodontitis is a prevalent oral disease characterised by chronic inflammation and irreversible alveolar bone ...
Jiayu Cheng +12 more
wiley +1 more source
Roles in physiology and disease of the inositol phosphatase synaptojanin 1. [PDF]
Biochim Biophys Acta Mol Cell Biol LipidsDe Camilli P.
europepmc +1 more source
The insulin‐like growth factor system and the progression of renal complications of type 2 diabetes
Diabetic Medicine, EarlyView.Abstract Aims Chronic kidney disease is associated with dysregulation of the insulin‐like growth factor (IGF) system. Alterations in IGF bioavailability, driven by IGF binding proteins (IGFBPs), may influence the decline in renal function. However, the longitudinal relationship between baseline IGF‐I, IGF‐II, IGFBPs and progression of kidney ...
Adrian Heald +13 more
wiley +1 more source
A Genome-Wide Modeling and Characterization Study of Pleckstrin Homology Domains in <i>Chlamydomonas reinhardtii</i>. [PDF]
Plants (Basel)Aksoy M, Krupitskaya M, Singh SM.
europepmc +1 more source
Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape
The FEBS Journal, EarlyView.The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto +9 more
wiley +1 more source
Molecular insight on the role of the phosphoinositide PIP3 in regulating the protein kinases Akt, PDK1, and BTK. [PDF]
Biochem Soc TransShaw AL, Burke JE.
europepmc +1 more source