A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies (Q28116753)

GOA release 2020-03-11

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Yoshihito Kishita

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Tsutomu Suzuki

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Jun Yasuda

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Akira Ohtake

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author name string

Yoshimi Tokuzawa

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Hiromi Nyuzuki

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Yohsuke Moriyama

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Yosuke Mizuno

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Tomoko Hirata

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Yukiko Yatsuka

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Yzumi Yamashita-Sugahara

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Yutaka Nakachi

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Hidemasa Kato

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Akihiko Okuda

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Shunsuke Tamaru

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Nurun Nahar Borna

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Kengo Banshoya

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Toshiro Aigaki

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Yukiko Sato-Miyata

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Kohei Ohnuma

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Asuteka Nagao

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Hazuki Maehata

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Fumihiko Matsuda

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Koichiro Higasa

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Masao Nagasaki

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Masayuki Yamamoto

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Takuya Fushimi

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Masaru Shimura

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Keiko Kaiho-Ichimoto

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Hiroko Harashima

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Taro Yamazaki

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Masato Mori

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Kei Murayama

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Yasushi Okazaki

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language of work or name

English

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publication date

1 January 2016

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4 January 2017

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volume

12

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page(s)

e1005679

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issue

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Creative Commons Attribution 4.0 International

10 June 2020

copyright license

start time

7 January 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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29 September 2017

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29 September 2017

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Genetic ablation of calcium-independent phospholipase A2gamma leads to alterations in mitochondrial lipid metabolism and function resulting in a deficient mitochondrial bioenergetic phenotype

29 September 2017

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29 September 2017

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29 September 2017

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

29 September 2017

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29 September 2017

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Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

29 September 2017

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

29 September 2017

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Biochemical and physical characterization of an unmodified yeast phenylalanine transfer RNA transcribed in vitro

29 September 2017

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Expression of yeast NDI1 rescues a Drosophila complex I assembly defect

29 September 2017

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2 June 2018

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Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

2 June 2018

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Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

2 June 2018

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

2 June 2018

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Infantile hypotonia as a presentation of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005679

Myofibril MgATPase activities and energy metabolism in cardiomyopathic mice with diastolic dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005679

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005679

Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

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Oxidative stress and aging reduce COX I RNA and cytochrome oxidase activity in Drosophila.

21 January 2018

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Changes in temperature preferences and energy homeostasis in dystroglycan mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005679

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704781

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26741492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26741492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1005679

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26741492%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26741492%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26741492%20AND%20SRC:MED&resulttype=core&format=json