Oxidative Phosphorylation Disorders

Common Name(s)

Oxidative Phosphorylation Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oxidative Phosphorylation Disorders" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oxidative Phosphorylation Disorders" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Oxidative Phosphorylation Disorders" returned 3 free, full-text research articles on human participants. First 3 results:

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders.
 

Author(s): Magdalena Lebiedzinska, Agnieszka Karkucinska-Wieckowska, Carlotta Giorgi, Elzbieta Karczmarewicz, Ewa Pronicka, Paolo Pinton, Jerzy Duszynski, Maciej Pronicki, Mariusz R Wieckowski

Journal: Biochim. Biophys. Acta. ;1797(6-7):952-60.

 

p66Shc, the growth factor adaptor protein, can have a substantial impact on mitochondrial metabolism through regulation of cellular response to oxidative stress. We investigated relationships between the extent of p66Shc phosphorylation at Ser36, mitochondrial dysfunctions and an ...

Last Updated: 21 Jun 2010

Go To URL
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.
 

Author(s): Kate Gibson, Jane L Halliday, Denise M Kirby, Joy Yaplito-Lee, David R Thorburn, Avihu Boneh

Journal: Pediatrics. 2008 Nov;122(5):1003-8.

 

The goals were to examine the frequency of perinatal manifestations of mitochondrial oxidative phosphorylation disorders within a population-based cohort, to characterize these manifestations, to identify a possible association between these manifestations and diagnoses at a later ...

Last Updated: 3 Nov 2008

Go To URL
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
 

Author(s): Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chretien, Agnès Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

Journal: J. Clin. Invest.. 2007 Mar;117(3):765-72.

 

Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS), as it distributes electrons among the various dehydrogenases and the cytochrome segments of the respiratory chain. We have identified 2 novel inborn errors of CoQ10 biosynthesis in 2 distinct families. ...

Last Updated: 2 Mar 2007

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Oxidative Phosphorylation Disorders" returned 1 free, full-text review articles on human participants. First 3 results:

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.
 

Author(s): Jan A Smeitink, Massimo Zeviani, Douglass M Turnbull, Howard T Jacobs

Journal: Cell Metab.. 2006 Jan;3(1):9-13.

 

The final steps in the production of adenosine triphosphate (ATP) in mitochondria are executed by a series of multisubunit complexes and electron carriers, which together constitute the oxidative phosphorylation (OXPHOS) system. OXPHOS is under dual genetic control, with communication ...

Last Updated: 9 Jan 2006

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Tissue Sample Study for Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

 

Last Updated: 1 Mar 2013

Go to URL