Cell and gene therapy for kidney disease

JL Peek, MH Wilson - Nature Reviews Nephrology, 2023 - nature.com
Kidney disease is a leading cause of morbidity and mortality across the globe. Current
interventions for kidney disease include dialysis and renal transplantation, which have …

Targeted gene therapy for rare genetic kidney diseases

V Khare, S Cherqui - Kidney International, 2024 - Elsevier
Chronic kidney disease (CKD) is one of the leading causes of mortality worldwide because
of kidney failure and the associated challenges of its treatment including dialysis and kidney …

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents

Y Wang, L Xu, Y Zhang, H Fu, L Gao, Y Guan… - International Journal of …, 2024 - Elsevier
Dent disease is a rare renal tubular disease with X-linked recessive inheritance
characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and …

A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1

IB Sakhi, E De Combiens, N Frachon, F Durussel… - Gene, 2024 - Elsevier
Dent disease (DD) is a hereditary renal disorder characterized by low molecular weight
(LMW) proteinuria and progressive renal failure. Inactivating mutations of the CLCN5 gene …

[HTML][HTML] 4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1

A Perdomo-Ramírez, E Ramos-Trujillo… - International Journal of …, 2024 - mdpi.com
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-
weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This …

Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects

P Lyu, MK Yadav, KW Yoo, C Jiang, Q Li, A Atala, B Lu - Gene Therapy, 2024 - nature.com
Dent disease type 1 is caused by changes in the chloride voltage-gated channel 5 (CLCN5)
gene on chromosome X, resulting in the lack or dysfunction of chloride channel ClC-5 …

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

M Durán, G Ariceta, ME Semidey… - Life Science …, 2024 - life-science-alliance.org
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 …

[HTML][HTML] A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1

E de Combiens, IB Sakhi, S Lourdel - Genes, 2024 - mdpi.com
Dent disease type 1 is a rare X-linked recessive inherited renal disorder affecting mainly
young males, generally leading to end-stage renal failure and for which there is no cure. It is …

Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1

N Murphey, C Authement, P Hillman… - Frontiers in …, 2024 - frontiersin.org
Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney
function and is caused by pathogenic variants in CLCN5. Affected males typically develop …

[PDF][PDF] A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type

E de Combiens, IB Sakhi, S Lourdel - 2024 - preprints.org
Dent disease type 1 is a rare inherited renal disorder affecting mainly young males,
generally leading to end-stage renal failure and for which there is no cure. It is caused by …