Publications by authors named "A Di Fonso"

Article Synopsis
  • - Store-operated calcium entry (SOCE) is a critical process in cells that helps them maintain calcium levels, especially when internal stores are low, and occurs in specialized regions of skeletal muscle where specific proteins are located.
  • - Mutations in certain proteins associated with SOCE are linked to a muscle disorder known as tubular aggregate myopathy, which shows an increase in specific structures as muscles age, particularly in male mice.
  • - A study on mice with a muscle-specific knockout of a protein called Orai1 found that these mice had a shorter lifespan, reduced weight, exercise intolerance, and more damaged mitochondria, while also showing changes in muscle structure, including a lack of tubular aggregates with age.
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Store-operated Ca entry (SOCE) is a mechanism that allows muscle fibers to recover external Ca, which first enters the cytoplasm and then, via SERCA pump, also refills the depleted intracellular stores (i.e., the sarcoplasmic reticulum, SR).

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Ageing is associated with an increase in the incidence of heart failure, even if the existence of a real age-related cardiomyopathy remains controversial. Effective contraction and relaxation of cardiomyocytes depend on efficient production of ATP (handled by mitochondria) and on proper Ca supply to myofibrils during excitation-contraction (EC) coupling (handled by Ca release units, CRUs). Here, we analyzed mitochondria and CRUs in hearts of adult (4 months old) and aged (≥24 months old) mice.

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Rationale: Mutations in the cardiac Ryanodine Receptor gene () cause dominant catecholaminergic polymorphic ventricular tachycardia (CPVT), a leading cause of sudden death in apparently healthy individuals exposed to emotions or physical exercise.

Objective: We investigated the efficacy of allele-specific silencing by RNA interference to prevent CPVT phenotypic manifestations in our dominant CPVT mice model carriers of the heterozygous mutation R4496C in .

Methods And Results: We developed an in vitro mRNA and protein-based assays to screen multiple siRNAs for their ability to selectively silence mutant -R4496C mRNA over the corresponding wild-type allele.

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Postpartum depression (PPD) is a frequent mood disorder. Early identification of mothers at risk is crucial to successful prevention. Cognitive Behavioural Therapy (CBT) is an effective preventing therapy.

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