Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochromebgene-Reference-Cited by-同舟云学术

Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochromebgene

Published:2017-10-12 Issue:1 Volume:39 Page:92-102
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Iommarini Luisa¹^ORCID,Ghelli Anna¹,Leone Giulia¹,Tropeano Concetta Valentina¹,Kurelac Ivana²,Amato Laura Benedetta²,Gasparre Giuseppe²,Porcelli Anna Maria¹³

Affiliation:

1. Dipartimento di Farmacia e Biotecnologie (FABIT); Università di Bologna; Bologna Italy

2. Dipartimento di Scienze Mediche e Chirurgiche (DIMEC); U.O. Genetica Medica; Pol. Universitario S. Orsola-Malpighi; Università di Bologna; Bologna Italy

3. Centro Interdipartimentale di Ricerca Industriale Scienze della Vita e Tecnologie per la Salute; Università di Bologna; Bologna Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

Italian Ministry of Health

Seventh Framework Programme

Ministero della Salute

Centro Studi della Barbariga

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy;Achilli;PLoS One,2012

2. Identification of ubiquinol binding motifs at the Qo-site of the cytochrome bc1 complex;Barragan;Journal of Physical Chemistry B,2015

3. Structure and function of cytochrome bc complexes;Berry;Annual Review of Biochemistry,2000

4. Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III;Bonora;Cancer Research,2006

5. Mitochondrial disease-related mutation G167P in cytochrome b of Rhodobacter capsulatus cytochrome bc1 (S151P in human) affects the equilibrium distribution of [2Fe-2S] cluster and generation of superoxide;Borek;Journal of Biological Chemistry,2015

Cited by 6 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. Specific NOX4 Inhibition Preserves Mitochondrial Function and Dampens Kidney Dysfunction Following Ischemia–Reperfusion-Induced Kidney Injury;Antioxidants;2024-04-19

2. Transcriptomic and epigenomic landscapes of Alzheimer's disease evidence mitochondrial-related pathways;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2022-10

3. Mitochondrial dysfunction: A hidden trigger of autism?;Genes & Diseases;2021-09

4. Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences;Life;2021-04-17

5. The alterations of mitochondrial DNA in coronary heart disease;Experimental and Molecular Pathology;2020-06