The European Rare Kidney Disease Reference Network


Journal Watch

Metabolic and stone disorders

A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?
Author(s): Midgley J
Source: Pediatr Nephrol 2019 Jan 8;
Publication date: 2019-01-8
Low Sodium Diet Decreases Stone Formation in Genetic Hypercalciuric Stone-Forming Rats.
Author(s): Krieger NS, Grynpas M, VandenEynde A, Asplin JR, Frick KK, Kim MH, Ramos FM, Granja I, Bushinsky DA
Source: Nephron 2019 Feb 6;:1-11
Publication date: 2019-02-6
Systemic Succinate Homeostasis and Local Succinate Signaling Affect Blood Pressure and Modify Risks for Calcium Oxalate Lithogenesis.
Author(s): Khamaysi A, Anbtawee-Jomaa S, Fremder M, Eini-Rider H, Shimshilashvili L, Aharon S, Aizenshtein E, Shlomi T, Noguchi A, Springer D, Moe OW, Shcheynikov N, Muallem S, Ohana E
Source: J Am Soc Nephrol 2019 Feb 6;
Publication date: 2019-02-6
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I.
Author(s): Zabaleta N, Barberia M, Martin-Higueras C, Zapata-Linares N, Betancor I, Rodriguez S, Martinez-Turrillas R, Torella L, Vales A, Olagüe C, Vilas-Zornoza A, Castro-Labrador L, Lara-Astiaso D, Prosper F, Salido E, Gonzalez-Aseguinolaza G, Rodriguez-Madoz JR
Source: Nat Commun 2018 Dec 21;9(1):5454
Publication date: 2018-12-21
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
Author(s): David D, Princiero Berlingerio S, Elmonem MA, Oliveira Arcolino F, Soliman N, van den Heuvel B, Gijsbers R, Levtchenko E
Source: Nephron 2018 Dec 14;141(2):1-14
Publication date: 2018-12-14
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