A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome-Reference-Cited by-同舟云学术

A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

Published:2022-09 Issue: Volume:32 Page:100887
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Fumagalli Monica,Ronchi Dario,Bedeschi Maria Francesca,Manini Arianna,Cristofori Gloria,Mosca Fabio,Dilena Robertino,Sciacco Monica,Zanotti Simona,Piga Daniela,Ardissino Gianluigi,Triulzi Fabio,Corti Stefania,Comi Giacomo P.,Salviati Leonardo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference17 articles.

1. Clinical and molecular features of mitochondrial DNA depletion syndromes;Spinazzola;J. Inherit. Metab. Dis.,2009

2. MtDNA-maintenance defects: syndromes and genes;Viscomi;J. Inherit. Metab. Dis.,2017

3. Mitochondrial purine and pyrimidine metabolism and beyond;Wang;Nucleosides Nucleotides Nucleic Acids,2016

4. Expression and mutation analyses of p53R2, a newly identified p53 target for dna repair in human gastric carcinoma;Byun;Int. J. Cancer,2002

5. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion;Bourdon;Nat. Genet.,2007

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1. Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology;Frontiers in Pediatrics;2024-04-25

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3. Reduced ribonucleotide reductase RRM2 subunit expression increases DNA damage and mitochondria dysfunction in woody breast chickens;American Journal of Veterinary Research;2024-02-12

4. Potential Role of Ribonucleotide Reductase Enzyme in Mitochondria Function and Woody Breast Condition in Broiler Chickens;Animals;2023-06-20