Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function-Reference-Cited by-同舟云学术

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

Published:2017-12-18 Issue:3 Volume:39 Page:406-414
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vazquez Fonseca Luis¹,Doimo Mara¹²,Calderan Cristina¹,Desbats Maria Andrea¹,Acosta Manuel J.¹,Cerqua Cristina¹,Cassina Matteo¹,Ashraf Shazia³,Hildebrandt Friedhelm³,Sartori Geppo⁴,Navas Placido⁵,Trevisson Eva¹,Salviati Leonardo¹^ORCID

Affiliation:

1. Clinical Genetics Unit; Department of Women and Children's Health; IRP Città della Speranza, University of Padova; Padova Italy

2. Department of Medical Biochemistry and Biophysics; Umeå University; Umeå Sweden

3. Division of Nephrology, Department of Medicine, Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

4. Department of Biomedical Sciences; University of Padova; Padova Italy

5. Centro Andaluz de Biología del Desarrollo; Universidad Pablo de Olavide-CSIC; CIBERER Instituto de Salud Carlos III; Seville Spain

Funder

Fondazione Cassa di Risparmio di Padova e Rovigo

Fondazione Città della Speranza

Ministero della Salute

Università degli Studi di Padova

Fondazione Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

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3. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption;Ashraf;Journal of Clinical Investigation,2013

4. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans;Baruffini;Human Molecular Genetics,2006

5. MitoProt, a Macintosh application for studying mitochondrial proteins;Claros;Computer Application in Biosciences,1995

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