TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV

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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Publication Details

Journal
Journal of the American Society of Nephrology
Published
2024-12-04
DOI
https://doi.org/10.1681/asn.0000000567
Citations
2
Primary Topic
Calcium signaling and nucleotide metabolism
Type
article
Field-Weighted Citation Impact
0.80

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article

TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV

Yulia Grishchuk, Francesco Trepiccione, Antonio Miele, Edoardo Nusco et al.
2 citations
Journal of the American Society of Nephrology
Calcium signaling and nucleotide metabolism
0.80
article

TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV

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

Abstract

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

Journal of the American Society of NephrologyVol. 36(4)
University of Campania "Luigi Vanvitelli" (IT), Massachusetts General Hospital (US), Mucolipidosis IV Foundation (US), Biogem (IT), Institute of Genetic and Biomedical Research (IT), Federico II University Hospital (IT), University of Campania "Luigi Vanvitelli" (IT), Telethon Institute Of Genetics And Medicine (IT), National Research Council (IT), Center for Systems Biology (US)
Fondazione Telethon
Good health and well-being
Openalex Percentile: Top 26%
Calcium signaling and nucleotide metabolism
0.80
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