Pathogenic variants of cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.
View Article and Find Full Text PDFBiochim Biophys Acta Biomembr
December 2024
Objective: To evaluate the association between the expanded lymphoid profile and inborn errors of immunity using flow cytometry.
Methods: Observational and cross-sectional, case-control study, carried out in patients with a diagnosis or clinical suspicion of inborn errors of immunity, treated at the Santísima Trinidad Children's Hospital in Córdoba, Argentina, from August 2021 to November 2022. Clinical data were collected, and peripheral blood samples were obtained for flow cytometry analysis, using the PIDOT tube, to identify lymphocyte subpopulations.
Aliment Pharmacol Ther
February 2025
Background: Nonalcoholic fatty liver disease (NAFLD) is an increasing concern for people living with HIV (PLWH). However, information on the impact of NAFLD on the prognosis of PLWH is very scarce.
Aims: To investigate the influence of NAFLD on the overall and liver-related mortality in PLWH.
The present work investigates the impact of particle size reduction of traditional ceramic materials as partial substitutes for Portland cement in mortars. Ceramic brick, ceramic tile, and stoneware were selected, with three particle sizes ( of 1, 5, and 15 μm) achieved through grinding operations adapted to each material grindability. The reactivity of ceramic powders was assessed via dissolution in saturated lime solution.
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