List of works - Yoshihito Kishita

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

scientific journal article

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

scientific article published on 04 August 2020

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

scientific article published on 26 January 2017

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

scientific article published on 22 November 2019

Barth Syndrome: Different Approaches to Diagnosis.

scientific article published on 15 December 2017

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background

scientific article published on 05 January 2019

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

scientific article published on 20 April 2017

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

scientific article published on 24 January 2014

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

article

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

scientific article published on 06 September 2019

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

scientific article published on 22 July 2019

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

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

scientific article published on 21 February 2013

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

scientific article published on February 10, 2012

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

scientific journal article

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.

scientific article published on 2 March 2018

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

scientific article published on 29 June 2010

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

scientific article

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.

scientific article published on 30 January 2018

Mitochondrial complex deficiency by novel compound heterozygous variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

scientific article published on 07 February 2019

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

scientific article published on 03 January 2019

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

scientific article published on 22 January 2020

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

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

scientific article published on 7 January 2016

List of works by Yoshihito Kishita

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

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

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

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

Barth Syndrome: Different Approaches to Diagnosis.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

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

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

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

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

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.

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

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

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.

Mitochondrial complex deficiency by novel compound heterozygous variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

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

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum