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Endolysosomal Disorders Affecting the Proximal Tubule of the Kidney: New Mechanistic Insights and Therapeutics

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  1. Article

    Open Access

    Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization

    Differentiation is critical for cell fate decisions, but the signals involved remain unclear. The kidney proximal tubule (PT) cells reabsorb disulphide-rich proteins through endocytosis, generating cystine via...

    Marine Berquez, Zhiyong Chen, Beatrice Paola Festa, Patrick Krohn in Nature Communications (2023)

  2. Article

    Open Access

    Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia

    Mitochondria—the intracellular powerhouse in which nutrients are converted into energy in the form of ATP or heat—are highly dynamic, double-membraned organelles that harness a plethora of cellular functions t...

    Alessandro Luciani, Matthew C. S. Denley in Cellular and Molecular Life Sciences (2021)

  3. Article

    Open Access

    Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen in Nature Communications (2020)

  4. Article

    Open Access

    Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

    Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due ...

    Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen in Nature Communications (2020)

  5. Article

    Open Access

    Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

    The endolysosomal system sustains the reabsorptive activity of specialized epithelial cells. Lysosomal storage diseases such as nephropathic cystinosis cause a major dysfunction of epithelial cells lining the ...

    Beatrice Paola Festa, Zhiyong Chen, Marine Berquez in Nature Communications (2018)

  6. Article

    Early tissue transglutaminase–mediated response underlies K562(S)-cell gliadin-dependent agglutination

    K562(S) agglutination has been used as a rapid and economic tool for the in vitro screening of the toxicity of cereal fractions and prolamins in celiac disease (CD). A strict correlation has been reported between...

    Marco Silano, Olimpia Vincentini, Alessandro Luciani, Cristina Felli in Pediatric Research (2012)