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Results 1 - 6 of 6 for Aspartic acid
  1. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... plays a role in adding the amino acid aspartic acid at the proper place in mitochondrial proteins.Mutations ... synthetase enzyme activity, which hinders the addition of aspartic acid to mitochondrial proteins. It is unclear how the ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  2. Asparagine synthetase deficiency 
    ... it converts the protein building block (amino acid) aspartic acid to the amino acid asparagine.In addition to ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  3. Epidermolytic hyperkeratosis 
    ... ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  4. Multiple familial trichoepithelioma 
    ... mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. ...
    https://medlineplus.gov/.../multiple-familial-trichoepithelioma - Genetics
  5. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... T, Chapman S, Pope FM. A glycine to aspartic acid substitution of COL2A1 in a family with the ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  6. Canavan disease 
    ... breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics