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Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the Gene.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», 188300 Gatchina, Russia.
Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.
View Article and Find Full Text PDFBeyond the "Dominant" and "Recessive" Patterns of Inheritance.
Int J Mol Sci
December 2024
Laboratory of Medical Biology-Genetics, Faculty of Medicine, School of Health Sciences, Aristotle University, 54124 Thessaloniki, Greece.
This study aimed to investigate whether genes with different modes of inheritance differ in the presence of promoter-enriched CGI loci. For each autosomal chromosome, the author searched for variations in the total number of diseases' phenotypes with autosomal dominant (AD) and recessive (AR) inheritance for a list of promoter-poor CGI (CGI-) and promoter-enriched CGI (CGI+) genes using the OMIM database. Then, the CGI- and CGI+ genes displaying random allelic or bi-allelic expression were examined.
View Article and Find Full Text PDFAltered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.
Int J Mol Sci
December 2024
William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Mitochondrial dysfunction is implicated in the pathogenesis of the neurological condition autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), yet precisely how the mitochondrial metabolism is affected is unknown. Thus, to better understand changes in the mitochondrial metabolism caused by loss of the sacsin protein (encoded by the SACS gene, which is mutated in ARSACS), we performed mass spectrometry-based tracer analysis, with both glucose- and glutamine-traced carbon. Comparing the metabolite profiles between wild-type and sacsin-knockout cell lines revealed increased reliance on aerobic glycolysis in sacsin-deficient cells, as evidenced by the increase in lactate and reduction of glucose.
View Article and Find Full Text PDFSpectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Biomedicines
December 2024
School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok 690922, Russia.
Wilson's disease (WD) (OMIM 277900) or hepatolenticular degeneration is an autosomal recessive disorder caused by impaired copper excretion with subsequent accumulation in the liver, brain, and other tissues of the body. The defects in copper metabolism are based on various pathogenic variants of the ATP7B gene encoding copper-transporting P-type ATPase. The aim of this work is to search for pathogenic variants of the ATP7B gene among Eastern Eurasian patient cohorts and to pick correlations between pathogenic variants, gender, age of onset of the disease, and the course of the disease.
View Article and Find Full Text PDFAn Overview of Gaucher Disease.
Diagnostics (Basel)
December 2024
Unidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico.
Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow. Focusing on the Mexican population, this study aims to review GD's epidemiology, clinical manifestations, and treatment options to enhance early diagnosis and optimize treatment outcomes.
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