Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

JAMA ◽

10.1001/jama.2014.7184 ◽

2014 ◽

Vol 312 (1) ◽

pp. 68 ◽

Author(s):

Robert W. Taylor ◽

Angela Pyle ◽

Helen Griffin ◽

Emma L. Blakely ◽

Jennifer Duff ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Respiratory Chain ◽

Genetic Basis ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Whole Exome ◽

Mitochondrial Respiratory

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

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718506064.793499515 ◽

2014 ◽

Author(s):

Gail Herman

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Respiratory Chain ◽

Genetic Basis ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Whole Exome ◽

Mitochondrial Respiratory

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A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

Brain and Development ◽

10.1016/j.braindev.2008.12.020 ◽

2010 ◽

Vol 32 (3) ◽

pp. 253-257 ◽

Author(s):

Joo Hee Seo ◽

Young Mock Lee ◽

Joon Soo Lee ◽

Se Hoon Kim ◽

Heung Dong Kim

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Ohtahara Syndrome ◽

Mitochondrial Respiratory

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Cocaine- and amphetamine-regulated transcript peptide increases mitochondrial respiratory chain complex II activity and protects against oxygen–glucose deprivation in neurons

Brain Research ◽

10.1016/j.brainres.2014.07.043 ◽

2014 ◽

Vol 1582 ◽

pp. 107-113 ◽

Author(s):

Dujuan Sha ◽

Luna Wang ◽

Jun Zhang ◽

Lai Qian ◽

Qiming Li ◽

...

Keyword(s):

Respiratory Chain ◽

Chain Complex ◽

Glucose Deprivation ◽

Mitochondrial Respiratory Chain ◽

Oxygen Glucose Deprivation ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Mitochondrial Respiratory

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Characterization of Arabidopsis mutant with inactivated gene coding for Fe-S subunit of mitochondrial respiratory chain complex I

Russian Journal of Plant Physiology ◽

10.1134/s1021443710030118 ◽

2010 ◽

Vol 57 (3) ◽

pp. 392-400 ◽

Author(s):

V. I. Tarasenko ◽

E. Yu. Garnik ◽

Yu. M. Konstantinov

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Gene Coding ◽

Arabidopsis Mutant ◽

Mitochondrial Respiratory

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Bisbenzyltetrahydroisoquinolines, a New Class of Inhibitors of the Mitochondrial Respiratory Chain Complex I

Planta Medica ◽

10.1055/s-2004-818921 ◽

2004 ◽

Vol 70 (3) ◽

pp. 266-268 ◽

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

New Class ◽

Mitochondrial Respiratory

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Dysfunction of mitochondrial respiratory chain complex I in human failing myocardium is not due to disturbed mitochondrial gene expression

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(02)02600-1 ◽

2002 ◽

Vol 40 (12) ◽

pp. 2174-2181 ◽

Author(s):

Robert J Scheubel ◽

Mike Tostlebe ◽

Andreas Simm ◽

Susanne Rohrbach ◽

Roland Prondzinsky ◽

...

Keyword(s):

Gene Expression ◽

Respiratory Chain ◽

Complex I ◽

Mitochondrial Gene ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Mitochondrial Gene Expression ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Mitochondrial Respiratory

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Novel Mycotoxin fromAcremonium exuviarumIs a Powerful Inhibitor of the Mitochondrial Respiratory Chain Complex III

Chemical Research in Toxicology ◽

10.1021/tx800317z ◽

2009 ◽

Vol 22 (3) ◽

pp. 565-573 ◽

Author(s):

Alexey G. Kruglov ◽

Maria A. Andersson ◽

Raimo Mikkola ◽

Merja Roivainen ◽

Laszlo Kredics ◽

...

Keyword(s):

Respiratory Chain ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Complex Iii ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Mitochondrial Respiratory

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

International Journal of Cardiology ◽

10.1016/j.ijcard.2016.01.026 ◽

2016 ◽

Vol 207 ◽

pp. 203-205 ◽

Author(s):

Atsuko Imai ◽

Shuhei Fujita ◽

Yoshihito Kishita ◽

Masakazu Kohda ◽

Yoshimi Tokuzawa ◽

...

Keyword(s):

Respiratory Chain ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Atpase 6 ◽

Mitochondrial Respiratory

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Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate

Pediatrics International ◽

10.1111/ped.12907 ◽

2016 ◽

Vol 58 (7) ◽

pp. 651-655

Author(s):

Yuya Hashimura ◽

Ichiro Morioka ◽

Chieko Hisamatsu ◽

Naoki Yokoyama ◽

Mariko Taniguchi-Ikeda ◽

...

Keyword(s):

Respiratory Chain ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Intestinal Pseudo Obstruction ◽

Mitochondrial Respiratory

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Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2017.04.001 ◽

2017 ◽

Vol 21 (5) ◽

pp. 783-786 ◽

Author(s):

Nathalie Villeneuve ◽

Affef Abidi ◽

Pierre Cacciagli ◽

Cécile Mignon-Ravix ◽

Brigitte Chabrol ◽

...

Keyword(s):

Respiratory Chain ◽

Early Onset ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Neonatal Onset ◽

Related Phenotype ◽

Mitochondrial Respiratory

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