Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy-Reference-Cited by-同舟云学术

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

Published:2008-07-27 Issue:4 Volume:31 Page:508-517
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Vylet’al P.,Hůlková H.,Živná M.,Berná L.,Novák P.,Elleder M.,Kmoch S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-0900-3

Reference48 articles.

1. Alroy J, Sabnis S, Kopp JB (2002) Renal pathology in Fabry disease. J Am Soc Nephrol 13(Supplement 2): S134–138.

2. Bernascone I, Vavassori S, Di Pentima A, et al (2006) Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 7: 1567–1579.

3. Bleyer AJ, Trachtman H, Sandhu J, Gorry MC, Hart TC (2003) Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. Am J Kidney Dis 42: E20–26.

4. Bleyer AJ, Hart TC, Shihabi Z, Robins V, Hoyer JR (2004) Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int 66: 974–977.

5. Breunig F, Wanner C (2003) Enzyme replacement therapy for Fabry disease: proving the clinical benefit. Nephrol Dial Transplant 18: 7–9.

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?;Rare Disease and Orphan Drugs Journal;2024-04-25

2. Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases;Diagnostics;2023-09-28

3. Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease;Frontiers in Pediatrics;2022-06-01

4. Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders;Molecular Omics;2022

5. Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up;Journal of Clinical Medicine;2021-04-13