'Cyclopropane synthase from Sterculia foetida developing seeds catalyzes the addition of a methylene group from S-adenosylmethionine to the cis double bond of oleic acid (Bao, X., Katz, S., Pollard, M., and Ohlrogge, J. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 7172-7177). To understand this enzyme better, differential expression ... More
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.
AuthorsWicking CA, Scholem RD, Hunt SM, Brown GK
JournalBiochem J
PubMed ID3800988
Pyruvate dehydrogenase (PDH) deficiency has been described in many patients with primary lactic acidosis. However, there are very few cases in which a structural defect in the complex has been clearly demonstrated. Measurement of the activity of the PDH complex in cultured human cells has proved unreliable, and a combination ... More
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
AuthorsLib MY, Brown RM, Brown GK, Marusich MF, Capaldi RA
JournalJ Histochem Cytochem
PubMed ID12070266
Deficiency of the E1 alpha-subunit of the pyruvate dehydrogenase (PDH) complex is an X-linked inborn error of metabolism and one of the major causes of lactic acidosis in children. Although most heterozygous females manifest symptoms of the disease, it is often difficult to establish the diagnosis as results based on ... More
An immunocytochemical approach to detection of mitochondrial disorders.
Mitochondrial disorders can lead to a confusing array of symptoms, which frequently makes a diagnosis difficult. Traditional approaches to such diagnoses are based on enzyme activity assays, with further characterization provided by genetic analysis. However, these methods require relatively large sample sizes, are time-consuming, labor-intensive, and show variability between laboratories. ... More
Transcriptome and proteome analysis of soleus muscle of hormone-sensitive lipase-null mice.
AuthorsHansson O, Donsmark M, Ling C, Nevsten P, Danfelter M, Andersen JL, Galbo H, Holm C
JournalJ Lipid Res
PubMed ID16199803
Hormone-sensitive lipase (HSL), a key enzyme in fatty acid mobilization in adipocytes, has been demonstrated also in skeletal muscle. To gain further insight into the role and importance of HSL in skeletal muscle, a transcriptome analysis of soleus muscle of HSL-null mice was performed. A total of 161 transcripts were ... More
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
AuthorsMorten KJ, Beattie P, Brown GK, Matthews PM
JournalNeurology
PubMed ID10449128
OBJECTIVE: To determine whether dichloroacetate (DCA) treatment can increase pyruvate dehydrogenase (PDH) activity in PDH-deficient cell lines harboring pathogenic mutations in the PDH E1alpha gene. BACKGROUND: PDH deficiency is a nuclear-encoded mitochondrial disorder and a major recognized cause of neonatal encephalomyopathies associated with primary lactic acidosis. Over the last decade, ... More