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Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.
Cell Discov
January 2025
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
A well-balanced ion channel trafficking machinery is paramount for the normal electromechanical function of the heart. Ion channel variants and many drugs can alter the cardiac action potential and lead to arrhythmias by interfering with mechanisms like ion channel synthesis, trafficking, gating, permeation, and recycling. A case in point is the Long QT syndrome (LQTS), a highly arrhythmogenic disease characterized by an abnormally prolonged QT interval on ECG produced by variants and drugs that interfere with the action potential.
View Article and Find Full Text PDFUsing T-Cell Subsets to Better Characterize Immunoresiliency and Immunodeficiency in Patients with Recurrent Infections.
Infect Dis Rep
December 2024
Department of Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.
Background/objectives: Common Variable Immunodeficiency Disease (CVID) and other immunodeficiencies can present in subtle and variable ways. Whether or not a genetic lesion can be identified, there are not well understood biomarkers that quantitatively describe how severe a deficiency is. Here we discuss two possible ranking systems, CD4/CD8 T cell ratios and Immune Health Grades, and how such data maybe applicable to some immunodeficiencies.
View Article and Find Full Text PDFClinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.
Neurol Genet
February 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.
Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.
View Article and Find Full Text PDFAbnormally activated wingless/integrated signaling modulates tumor-associated macrophage polarization and potentially promotes hepatocarcinoma cell growth.
World J Gastroenterol
November 2024
School of Pharmacy, Faculty of Medicine, Macau University of Science and Technology, Macau 999078, China.
In this article, we comment on the article by Huang . The urgent development of new therapeutic strategies targeting macrophage polarization is critical in the fight against liver cancer. Tumor-associated macrophages (TAMs), primarily of the M2 subtype, are instrumental in cellular communication within the tumor microenvironment and are influenced by various signaling pathways, including the wingless/integrated (Wnt) pathway.
View Article and Find Full Text PDFSome brain disorders are "chaperonopathies".
Science
November 2024
Appel Alzheimer's Disease Research Institute and Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
Mutations that impair a protein-folding chaperone can lead to brain malformations.
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