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Results 1 - 10 of 12 for Abnormal activity of mitochondrial respiratory chain
  1. Hereditary paraganglioma-pheochromocytoma 
    ... result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3): ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  2. SDHD gene 
    ... result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3): ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  3. ETHE1 gene 
    ... in cells. The buildup of sulfide inhibits the activity of COX, which disrupts mitochondrial energy production and damages tissues and organs throughout ...
    https://medlineplus.gov/genetics/gene/ethe1 - Genetics
  4. BCS1L gene 
    ... Munnich A, Rustin P, Rotig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. ... in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16( ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  5. Mitochondrial complex V deficiency 
    ... Brandt U, Nijtmans L. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. Cell Metab. 2017 Jan 10;25(1):128-139. doi: 10.1016/j.cmet.2016.09.002. Epub 2016 Oct 6. Citation on PubMed ... genetic defects of mitochondrial ATP synthase. Physiol Res. 2014;63(Suppl 1): ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  6. Deoxyguanosine kinase deficiency 
    ... Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  7. SDHA gene 
    ... abnormally short protein. These genetic changes disrupt the activity of the SDH enzyme, impairing the ability of mitochondria to produce energy. It is not known, however, ...
    https://medlineplus.gov/genetics/gene/sdha - Genetics
  8. Carnitine palmitoyltransferase II deficiency 
    ... enter mitochondria. Once these fatty acids are inside mitochondria, ... the activity of carnitine palmitoyltransferase 2. Without enough of this ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  9. Essential Oils From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Environmental Health/Specifics ... Environmental Health ... National Institute of Environmental Health Sciences ... From the National Institutes of Health ... Essential oils ...
    https://www.niehs.nih.gov/health/topics/agents/essential-oils - External Health Links
  10. Lung Diseases From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Lung disease refers to several types of diseases or disorders that prevent the lungs from functioning properly. Lung disease can affect respiratory function, ...
    https://www.niehs.nih.gov/health/topics/conditions/lung-disease - External Health Links
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