Publications by authors named "Yoshihito Kishita"

31Publications

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

Mol Genet Genomic Med 2020 Aug 4:e1427. Epub 2020 Aug 4.

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

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http://dx.doi.org/10.1002/mgg3.1427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549589PMC
August 2020

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Brain 2020 Jul;143(7):e54

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo 113-8421, Japan.

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http://dx.doi.org/10.1093/brain/awaa130DOI Listing
July 2020

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.

Clin Genet 2020 Aug 25;98(2):155-165. Epub 2020 May 25.

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cge.13773DOI Listing
August 2020

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.

FEBS Lett 2020 Apr 15. Epub 2020 Apr 15.

Department of Biological Sciences, Graduate School of Science, Tokyo Metropolitan University, Hachioji-shi, Japan.

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http://dx.doi.org/10.1002/1873-3468.13792DOI Listing
April 2020

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Int J Cardiol 2019 Mar 5;279:115-121. Epub 2019 Jan 5.

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan; Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183431
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http://dx.doi.org/10.1016/j.ijcard.2019.01.017DOI Listing
March 2019

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Neurogenetics 2019 03 3;20(1):9-25. Epub 2019 Jan 3.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.

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http://link.springer.com/10.1007/s10048-018-0561-9
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http://dx.doi.org/10.1007/s10048-018-0561-9DOI Listing
March 2019

Barth Syndrome: Different Approaches to Diagnosis.

J Pediatr 2018 02 15;193:256-260. Epub 2017 Dec 15.

Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.09.075DOI Listing
February 2018

MSH1 maintains organelle genome stability and genetically interacts with RECA and RECG in the moss Physcomitrella patens.

Plant J 2017 Aug 1;91(3):455-465. Epub 2017 Jun 1.

Department of Life Science, College of Science, Rikkyo (St Paul's) University, Toshima-ku, Tokyo, 171-8501, Japan.

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http://dx.doi.org/10.1111/tpj.13573DOI Listing
August 2017

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

J Hum Genet 2017 Apr 26;62(5):539-547. Epub 2017 Jan 26.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.165DOI Listing
April 2017

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.

Int J Cardiol 2016 Oct 29;221:446-9. Epub 2016 Jun 29.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.06.287DOI Listing
October 2016

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Int J Cardiol 2016 Mar 7;207:203-5. Epub 2016 Jan 7.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.01.026DOI Listing
March 2016

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency.

Biochem Biophys Res Commun 2013 Mar 21;433(1):145-50. Epub 2013 Feb 21.

Department of Biological Sciences, Tokyo Metropolitan University, 1-1 Minami-osawa, Hachioji, Tokyo 192-0397, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2013.02.040DOI Listing
March 2013

Impaired fatty acid oxidation in a Drosophila model of mitochondrial trifunctional protein (MTP) deficiency.

Biochem Biophys Res Commun 2012 Mar 10;419(2):344-9. Epub 2012 Feb 10.

Department of Biological Sciences, Tokyo Metropolitan University, 1-1 Minami-osawa, Hachioji, Tokyo 192-0397, Japan.

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http://ac.els-cdn.com/S0006291X12002446/1-s2.0-S0006291X1200
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http://linkinghub.elsevier.com/retrieve/pii/S0006291X1200244
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http://dx.doi.org/10.1016/j.bbrc.2012.02.026DOI Listing
March 2012

Loss of Trx-2 enhances oxidative stress-dependent phenotypes in Drosophila.

FEBS Lett 2010 Aug 29;584(15):3398-401. Epub 2010 Jun 29.

Department of Biological Sciences, Tokyo Metropolitan University, 1-1 Minami-osawa, Hachioji-shi, Tokyo 192-0397, Japan.

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http://doi.wiley.com/10.1016/j.febslet.2010.06.034
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http://dx.doi.org/10.1016/j.febslet.2010.06.034DOI Listing
August 2010