Publications by authors named "S Montefusco"

I need to thank my colleagues for their valuable comments on the recently published paper entitled "Identification of Achille's Tendon Tears: Diagnostic Accuracy of Dual-Energy CT with Respect to MRI" [...

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Article Synopsis
  • * A study reviewed 21 MLIV patients and conducted experiments on MLIV mouse models to understand kidney function, revealing that adult patients often have chronic kidney disease along with altered kidney functions and structure in the mice due to issues with endolysosomal function and autophagy.
  • * Results showed decreased kidney function, presence of fibrosis and inflammation in MLIV models, and impaired uptake of essential proteins, which highlights cellular and systemic dysfunction in the
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: The aim was to assess the diagnostic accuracy of DECT in diagnosing Achilles tendon tears, using MRI as the reference for diagnosis. : This feasibility study conducted prospectively at a single center included consecutive patients suffering from ankle pain who underwent DECT and MRI between April 2023 and October 2023. A total of three radiologists, blinded to the patient's clinical data, assessed the images.

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Protein biogenesis within the endoplasmic reticulum (ER) is crucial for organismal function. Errors during protein folding necessitate the removal of faulty products. ER-associated protein degradation and ER-phagy target misfolded proteins for proteasomal and lysosomal degradation.

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TFEB, a bHLH-leucine zipper transcription factor belonging to the MiT/TFE family, globally modulates cell metabolism by regulating autophagy and lysosomal functions. Remarkably, loss of TFEB in mice causes embryonic lethality due to severe defects in placentation associated with aberrant vascularization and resulting hypoxia. However, the molecular mechanism underlying this phenotype has remained elusive.

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