Gerard Cantero-Recasens

SEC22B modulates ClC-5/TMEM9 trafficking and serves as a urinary marker for Dent’s Disease

M. Durán, A. Casal-Pardo, E. Sarro, F. Stein et autres

The Cl − /H + antiporter ClC-5 is a key regulator of renal proximal tubule function, primarily by controlling endosomal acidification. Loss-of-function mutations in ClC-5 cause Dent’s Disease type 1 (DD1), a rare renal tubulopathy that progresses to kidney failure with significant …

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TMEM9 and SEC22B interact with ClC-5 to shape renal proximal tubule function and Dent’s Disease type I pathogenesis

Mónica Durán, Andrea Casal-Pardo, Eduard Sarró, Frank Stein et autres

Abstract Cl - /H + antiporter ClC-5 is a key regulator of renal proximal tubule function, primarily by controlling endosomal acidification. Loss-of-function mutations in ClC-5 cause Dent’s Disease type 1 (DD1), a rare renal tubulopathy that progresses to kidney failure with varying …

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Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids

Carmen Llorens-Cebrià, Daphne Bouwens, Martijn van der Velde, Mónica Durán et autres

Idiopathic nephrotic syndrome (INS) associated to focal segmental glomeruloesclerosis or minimal change disease is characterized by the presence of heavy levels of proteinuria. Filtrated proteins are normally actively reabsorbed in the proximal tubule by the megalin-cubilin-amnionless complex, located at the apical membrane …

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A highly conserved neuronal microexon in DAAM1 controls actin dynamics, RHOA/ROCK signaling, and memory formation

Patryk Poliński, Marta Miret-Cuesta, Alfonsa Zamora‐Moratalla, Federica Mantica et autres

Actin cytoskeleton dynamics is essential for proper nervous system development and function. A conserved set of neuronal-specific microexons influences multiple aspects of neurobiology; however, their roles in regulating the actin cytoskeleton are unknown. Here, we study a microexon in DAAM1, a formin-homology-2 …

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Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype

Mònica Vall‐Palomar, Jordi Morata, Mónica Durán, Raúl Tonda et autres

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an ultra-rare autosomal recessive renal tubular disease with an incidence of <1/1.000.000 individuals, caused by loss-of-function mutations in CLDN16 and CLDN19. Our study includes a unique cohort representing all known FHHNC patients in Spain, …

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Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids

Carmen Llorens-Cebrià, Daphne Bouwens, Maria José Soler, Joan López-Hellín et autres

Llorens-Cebrià, Carmen; Bouwens, Daphne; Van Der Velde, Max; Duran, Mónica; Salvadó-Pau, Mireia; Martínez-Díaz, Irene; Vilardell-Vilà, Jordi; Meseguer, Anna; Kramann, Rafael; Ferrer-Costa, Roser; Soler, Maria José; López-Hellín, Joan; Cantero-Recasens, Gerard; Jansen, Jitske; Jacobs-Cachá, Conxita

Highly Glycosylated Mucins and FUT8 in Ulcerative Colitis

Gerard Cantero-Recasens

Mucins, highly glycosylated proteins, are the main macrocomponents of the mucus layer that protects our epithelia from toxins, allergens and pathogens under physiological conditions. Tight regulation of their synthesis is essential for the correct organization and protective role of the mucus layer. …

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Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation

Mónica Durán, Gema Ariceta, María Eugenia Semidey, Carla Castells-Esteve et autres

Mutations in Cl − /H + antiporter ClC-5 cause Dent’s disease type 1 (DD1), a rare tubulopathy that progresses to renal fibrosis and kidney failure. Here, we have used DD1 human cellular models and renal tissue from DD1 mice to unravel the …

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Author Correction: Temporal and sex-dependent gene expression patterns in a renal ischemia–reperfusion injury and recovery pig model

Stéphane Nemours, L. Filipe C. Castro, Didac Ribatallada‐Soriano, María Eugenia Semidey et autres

“All microarray data in this publication have been deposited in NCBI's Gene Expression Omnibus 57,58 and are accessible through GEO Series accession number GSE259281 ( https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE259281 ).”

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Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent’s disease type 1 Spanish patients

Carla Burballa, Mónica Durán, Cristina Álvarez Martinez, Gema Ariceta et autres

Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic kidney disease, and low-weight proteinuria, the molecular hallmark of the disease. Currently, there is no …

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IDENTIFICATION OF MODIFIER GENE VARIANTS OVERREPRESENTED IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS PATIENTS WITH A MORE AGGRESSIVE RENAL PHENOTYPE

Mònica Vall‐Palomar, Jordi Morata, M. Durán, Joseph Torchia et autres

ABSTRACT Inter- and intra-familial phenotypic variability is a common observation in genetic diseases. In this study we have gathered a highly unique patient cohort suffering from an ultra-rare renal disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, with a deep clinical and genetic …

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STAT3 phosphorylation at serine 727 activates specific genetic programs and promotes clear cell renal cell carcinoma (ccRCC) aggressiveness

J. Arévalo, Irene Campoy, M. Durán, Stéphane Nemours et autres

The signal transducer and activator of transcription 3 (STAT3) is a transcription factor mainly activated by phosphorylation in either tyrosine 705 (Y705) or serine 727 (S727) residues that regulates essential processes such as cell differentiation, apoptosis inhibition, or cell survival. Aberrant activation …

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