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N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.
Cell Commun Signal
January 2025
IBMC - Instituto de Biologia Molecular E Celular, University of Porto, Porto, Portugal.
Background: Seipin is a protein encoded by the BSCL2 gene in humans and SEI1 gene in yeast, forming an Endoplasmic Reticulum (ER)-bound homo-oligomer. This oligomer is crucial in targeting ER-lipid droplet (LD) contact sites, facilitating the delivery of triacylglycerol (TG) to nascent LDs. Mutations in BSCL2, particularly N88S and S90L, lead to seipinopathies, which correspond to a cohort of motor neuron diseases (MNDs) characterized by the accumulation of misfolded N88S seipin into inclusion bodies (IBs) and cellular dysfunctions.
View Article and Find Full Text PDFmiR-195-5p Inhibits Colon Cancer Progression via KRT23 Regulation.
Pharmaceutics
December 2024
National Institute of Gastroenterology S. De Bellis, IRCCS Research Hospital, Via Turi 27, 70013 Castellana Grotte, BA, Italy.
Background/objectives: KRT23 was recently discovered as an epithelial-specific intermediate filament protein in the type I keratin family. Many studies have underlined keratin's involvement in several biological processes as well as in the pathogenesis of different diseases. Specifically, KRT23 was reported to affect the structural integrity of epithelial cells and to trigger cellular signaling leading to the onset of cancer.
View Article and Find Full Text PDFdEREGulated pathways: Unraveling the role of epiregulin in skin, kidney and lung fibrosis.
Am J Physiol Cell Physiol
January 2025
Center for Infection and Genomics of the Lung (CIGL), Faculty of Medicine, Justus Liebig University (JLU), Giessen, Germany. Member of the German Center for Lung Research.
The epidermal growth factor receptor (EGFR) signaling pathway is an evolutionary conserved mechanism to control cell behavior during tissue development and homeostasis. Deregulation of this pathway has been associated with abnormal cell behavior, including hyperproliferation, senescence, and an inflammatory cell phenotype, thereby contributing to pathologies across a variety of organs, including kidney, skin, and lung. To date, there are seven distinct EGFR ligands described.
View Article and Find Full Text PDFMicroRNAs as diagnostic biomarkers in diabetes male infertility: a systematic review.
Mol Biol Rep
December 2024
Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, Iran.
This study conducts an in-depth review of the correlation between testis tissue changes and circulating microRNAs (miRNA) in diabetes-induced male reproductive complications, drawing upon both animal and clinical studies. The original articles published in English that specifically investigate miRNAs linked to male infertility in humans or animals with either type I or ΙΙ diabetes mellitus were included. The relevant articles were gathered from the PubMed, Google Scholar, Cochrane Library, and ScienceDirect databases.
View Article and Find Full Text PDFThe Putative Antilipogenic Role of NRG4 and ERBB4: First Expression Study on Human Liver Samples.
Front Biosci (Landmark Ed)
December 2024
Center for Immunology and Cellular Biotechnology, Institute of Medicine and Life Sciences, Immanuel Kant Baltic Federal University, 236001 Kaliningrad, Russia.
Background: Epidermal growth factor receptor 4 (ERBB4) and neuregulin 4 (NRG4) have been shown to reduce steatosis and prevent the development of non-alcoholic steatohepatitis in mouse models, but little to nothing is known about their role in non-alcoholic fatty liver disease (NAFLD) in humans. This study is the first to investigate the expression of and mRNAs and their role in lipid metabolism in the livers of individuals with obesity, type 2 diabetes and biopsy-proven NAFLD.
Methods: Liver biospecimens were obtained intraoperatively from 80 individuals.
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