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Results 1 - 10 of 24 for ALANINE OR ARGININE OR ASPARTIC ACID OR GLUTAMIC ACID OR GLYCINE OR HISTIDINE OR ISOLEUCINE OR LEUCINE OR LYSINE OR METHIONINE OR "N-ACETYLTYROSINE" OR PHENYLALANINE OR PROLINE OR SERINE OR THREONINE OR TRYPTOPHAN OR VALINE
Did you mean ALANINE OR ARGININE OR ASPARTIC ACID OR glutamine ACID OR GLYCINE OR HISTIDINE OR ISOLEUCINE OR LEUCINE OR LYSINE OR METHIONINE OR "N-acetyl tyrosine" OR PHENYLALANINE OR PROLINE OR SERINE OR THREONINE OR TRYPTOPHAN OR VALINE?
  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
  7. Caffey disease 
    ... Caffey disease replaces the protein building block (amino acid) arginine with the amino acid cysteine at protein position 836 (written as Arg836Cys ...
    https://medlineplus.gov/genetics/condition/caffey-disease - Genetics
  8. Amish lethal microcephaly 
    ... mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  9. Beta-ureidopropionase deficiency 
    ... alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous ... enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  10. Arginine:glycine amidinotransferase deficiency 
    ... compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, arginine:glycine amidinotransferase controls the ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
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