A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome-Reference-Cited by-同舟云学术

A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Published:2020-08-04 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kishita Yoshihito¹^ORCID,Shimura Masaru²^ORCID,Kohda Masakazu¹^ORCID,Akita Masumi³,Imai‐Okazaki Atsuko¹^ORCID,Yatsuka Yukiko¹^ORCID,Nakajima Yoko⁴,Ito Tetsuya⁴,Ohtake Akira⁵⁶^ORCID,Murayama Kei²^ORCID,Okazaki Yasushi¹^ORCID

Affiliation:

1. Diagnostics and Therapeutics of Intractable Diseases Intractable Disease Research Center Juntendo University Graduate School of Medicine Tokyo Japan

2. Department of Metabolism Chiba Children's Hospital Chiba Japan

3. Division of Morphological Science Biomedical Research Center Saitama Medical University Saitama Japan

4. Department of Pediatrics Fujita Health University School of Medicine Toyoake Japan

5. Department of Pediatrics & Clinical Genomics Faculty of Medicine Saitama Medical University Saitama Japan

6. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Tokyo Biochemical Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1427

Reference17 articles.

1. Mitochondrial DNA replication: clinical syndromes

2. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

3. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

4. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

5. CHCHD 10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

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