Mechanisms of Cyst Expansion in Polycystic Kidney Disease DOI
Kai M. Schmidt‐Ott

Journal of the American Society of Nephrology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 28, 2025

Department of Nephrology and Hypertension, Hannover Medical School, Hannover, Germany Correspondence: Prof. Dr. med. Kai M. Schmidt-Ott, email: [email protected] See related article, "Adamts1 Cyst Expansion in Polycystic Kidney Disease," on pages XXX–XXX.

Language: Английский

Primary cilia as dynamic and diverse signalling hubs in development and disease DOI
Pleasantine Mill, Søren T. Christensen, Lotte B. Pedersen

et al.

Nature Reviews Genetics, Journal Year: 2023, Volume and Issue: 24(7), P. 421 - 441

Published: April 18, 2023

Language: Английский

Citations

189
PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression DOI Creative Commons
Ronak Lakhia, Harini Ramalingam,

Chun-Mien Chang

et al.

Nature Communications, Journal Year: 2022, Volume and Issue: 13(1)

Published: Aug. 15, 2022

Autosomal dominant polycystic kidney disease (ADPKD), among the most common human genetic conditions and a frequent etiology of failure, is primarily caused by heterozygous PKD1 mutations. Kidney cyst formation occurs when dosage falls below critical threshold. However, no framework exists to harness remaining allele or reverse decline. Here, we show that mRNAs produced noninactivated are repressed via their 3'-UTR miR-17 binding element. Eliminating this motif (Pkd1

Language: Английский

Citations

42
The genetics and pathogenesis of CAKUT DOI
Caroline M. Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt

et al.

Nature Reviews Nephrology, Journal Year: 2023, Volume and Issue: 19(11), P. 709 - 720

Published: July 31, 2023

Language: Английский

Citations

40
Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD—a randomized controlled trial DOI Creative Commons
Sadrija Cukoski, Christoph Heinrich Lindemann, Sita Arjune

et al.

Cell Reports Medicine, Journal Year: 2023, Volume and Issue: 4(11), P. 101283 - 101283

Published: Nov. 1, 2023

Ketogenic dietary interventions (KDIs) are beneficial in animal models of autosomal-dominant polycystic kidney disease (ADPKD). KETO-ADPKD, an exploratory, randomized, controlled trial, is intended to provide clinical translation these findings (NCT04680780). Sixty-six patients were randomized a KDI arm (ketogenic diet [KD] or water fasting [WF]) the control group. Both induce significant ketogenesis on basis blood and breath acetone measurements. Ninety-five percent (KD) 85% (WF) report as feasible. KD leads reductions body fat liver volume. Additionally, associated with reduced volume (not reaching statistical significance). Interestingly, group exhibits improved function at end treatment, while WF groups show progressive decline, typical ADPKD. Safety-relevant events largely mild, expected (initial flu-like symptoms KD), transient. Safety assessment complemented by nuclear magnetic resonance (NMR) lipid profile analyses.

Language: Английский

Citations

38
Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication DOI Creative Commons

Camille Derderian,

Gabriela Canales,

Jeremy F. Reiter

et al.

Developmental Cell, Journal Year: 2023, Volume and Issue: 58(15), P. 1333 - 1349

Published: July 24, 2023

Language: Английский

Citations

32
Cell and gene therapy for kidney disease DOI
Jennifer L. Peek, Matthew H. Wilson

Nature Reviews Nephrology, Journal Year: 2023, Volume and Issue: 19(7), P. 451 - 462

Published: March 27, 2023

Language: Английский

Citations

31
Polycystic kidney disease: novel insights into polycystin function DOI

Lingfei Luo,

Sudipto Roy, Li Li

et al.

Trends in Molecular Medicine, Journal Year: 2023, Volume and Issue: 29(4), P. 268 - 281

Published: Feb. 15, 2023

Language: Английский

Citations

24
Genetics of cystogenesis in base-edited human organoids reveal therapeutic strategies for polycystic kidney disease DOI Creative Commons
Courtney E. Vishy,

Chardai J. Thomas,

Thomas L. Vincent

et al.

Cell stem cell, Journal Year: 2024, Volume and Issue: 31(4), P. 537 - 553.e5

Published: April 1, 2024

Language: Английский

Citations

16
Genetics of Chronic Kidney Disease DOI

Asaf Vivante

New England Journal of Medicine, Journal Year: 2024, Volume and Issue: 391(7), P. 627 - 639

Published: Aug. 14, 2024

The author discusses the diagnosis and management of CKD genetic origin in adults, focusing on single-gene variants that cause or confer a substantial risk progressive CKD.

Language: Английский

Citations

16
Kidney organoid models reveal cilium-autophagy metabolic axis as a therapeutic target for PKD both in vitro and in vivo DOI Creative Commons
Meng Liu, Chao Zhang,

Ximing Gong

et al.

Cell stem cell, Journal Year: 2024, Volume and Issue: 31(1), P. 52 - 70.e8

Published: Jan. 1, 2024

Language: Английский

Citations

15