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Results 1 - 10 of 13 for Abnormal mitochondrial shape
  1. Autosomal dominant optic atrophy and cataract 
    ... play a role in the organization of the shape and structure of the mitochondria and in controlled cell death (apoptosis).Mutations in the OPA3 gene lead to abnormal mitochondrial function. The mitochondria become misshapen and disorganized ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  2. Barth syndrome 
    ... altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells.TAFAZZIN ... excess of MLCL are thought to impair normal mitochondrial shape and functions. Tissues with high energy demands, such ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  3. TAFAZZIN gene 
    ... perform its functions. Cardiolipin is necessary for maintaining mitochondrial shape, energy production, and protein transport within cells. More ... MLCL are thought to cause problems with normal mitochondrial shape and functions such as energy production and protein ...
    https://medlineplus.gov/genetics/gene/tafazzin - Genetics
  4. OPA3 gene 
    ... autosomal dominant optic atrophy and cataract lead to abnormal mitochondrial function. The mitochondria become misshapen and disorganized and ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  5. SLC25A24 gene 
    ... overall decrease in ATP production. This increase in abnormal mitochondria and decrease in energy production can lead to ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  6. Gorlin-Chaudhry-Moss syndrome 
    ... overall decrease in energy production. This increase in abnormal mitochondria and decrease in cellular energy can lead to ...
    https://medlineplus.gov/.../condition/gorlin-chaudhry-moss-syndrome - Genetics
  7. LETM1 gene 
    ... of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. J ...
    https://medlineplus.gov/genetics/gene/letm1 - Genetics
  8. PDP1 gene 
    ... 1 protein, which is thought to change its shape. The abnormal protein cannot remove the phosphate group from the ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics
  9. BCS1L gene 
    ... Ser78Gly or S78G). This alteration likely changes the shape of the protein, and the abnormal protein is broken down more quickly than the ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  10. X chromosome 
    ... suggest that impaired filamin A function affects the shape of cells in the ... tract, abnormal layering of these muscles may interfere with peristalsis. ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
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