TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV

G. Grieco; Sandro Montefusco; Edoardo Nusco; Antonella Capuozzo; Francesca Cervellini; Elena Polishchuk; Martha Bishop; Antonio Miele; Luciano D’Apolito; Carlo La Vecchia; Miriam Aurilia; Michela Schiavo; Leopoldo Staiano; Marcella Cesana; Rebecca S. Oberman; Anna Lynch; Patricia L. Musolino; Francesco Trepiccione; Yulia Grishchuk; Diego L. Medina

doi:10.1681/asn.0000000567

Abstract

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Our findings link TRPML-1 dysfunction to the development of kidney disease in MLIV, providing new insights into its pathogenesis and potential therapeutic targets.

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