Vesicular CLC chloride/proton exchangers in health and diseases

A Picollo - Frontiers in Pharmacology, 2023 - frontiersin.org
Chloride is one of the most abundant anions in the human body; it is implicated in several
physiological processes such as the transmission of action potentials, transepithelial salt …

Clinical and genetic characteristics of Dent's disease type 1 in Europe

C Burballa, G Cantero-Recasens… - Nephrology Dialysis …, 2023 - academic.oup.com
Background Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5
mutations, characterized by proximal tubule dysfunction, including low molecular weight …

[HTML][HTML] Identification of an Electrogenic 2Cl−/H+ Exchanger, ClC5, as a Chloride-Secreting Transporter Candidate in Kidney Cyst Epithelium in Tuberous Sclerosis

S Barone, M Brooks, K Zahedi, LS Holliday… - The American Journal of …, 2023 - Elsevier
Kidney cyst expansion in tuberous sclerosis complex (TSC) or polycystic kidney disease
(PKD) requires active secretion of chloride (Cl−) into the cyst lumen. In PKD, Cl− secretion is …

[HTML][HTML] Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients

C Burballa, M Duran, C Martínez, G Ariceta… - Nefrología (English …, 2023 - Elsevier
Background and objectives Dent's disease type 1 (DD1) is a rare X-linked hereditary
pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule …

Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters

SS Mannemuddhu, A Bökenkamp - Kidney International Reports, 2023 - kireports.org
Dent disease is a rare X-linked recessive disorder characterized by various degrees of
proximal tubular dysfunction, nephrocalcinosis or nephrolithiasis, and slowly progressive …

Decoding Hypercalcemia and Renal Stones in a Young Adult: Could it be Dent's Disease?

M Hajji, H Kaaroud, F Ben Hamida… - Clinical Medicine …, 2023 - journals.sagepub.com
Dent's disease is a rare genetic kidney disorder characterized by proximal tubular
dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease …

[HTML][HTML] Aislamiento y caracterización de vesículas extracelulares enriquecidas en exosomas en pacientes españoles con enfermedad de Dent 1

C Burballa, M Duran, C Martínez, G Ariceta… - nefrologia, 2023 - Elsevier
Antecedentes y objetivo La enfermedad de Dent tipo 1 (DD1) es una enfermedad
hereditaria rara ligada al cromosoma X causada por mutaciones en el CLCN5 que se …

Development and Application of Therapeutically Focused Synthetic Anion Transporters.

WG Ryder - 2023 - ses.library.usyd.edu.au
This thesis details the development of novel synthetic anion receptors and transporters, with
a focus on augmenting their cellular effects to further advance their therapeutic application …