Sökning: "hydroxylase"

Visar resultat 1 - 5 av 160 avhandlingar innehållade ordet hydroxylase.

  1. 1. Pteridine dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type 1

    Författare :Olov Ekwall; Uppsala universitet; []
    Nyckelord :Medical sciences; APS I; alopecia; autoantigen; cDNA; malabsorption; phenylalanine hydroxylase; pteridine; tryptophan hydroxylase; tyrosine hydroxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Sammanfattning : Autoimmune polyendocrine syndrome type I (APS) is a monogenous, recessively inherited disease characterised by endocrine and non-endocrine autoimmune manifestations. One fifth of APS I patients suffer from periodic intestinal dysfunction with varying degrees of malabsorbtion, steatorrhea and constipation. LÄS MER

  3. 2. X-ray characterization of PaPheOH, a bacterial phenylalanine hydroxylase

    Författare :Fredrik Ekström; Uwe H. Sauer; Edward Hough; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biochemistry; PaPheOH; PheOH; PAH; phhA; phenylalanine hydroxylase; protein crystallography; a-actinin; microcrystal; ABD; CH-domain; Biokemi; Biochemistry; Biokemi; biokemi; Biochemistry;

    Sammanfattning : Many human diseases are associated with the malfunction of enzymes in the aromatic amino acid hydroxylase family, e.g. phenylketonuria (PKU), hyperphenylalaninemia (HPA), schizophrenia and Parkinson's disease. LÄS MER

  4. 3. Vitamin D and its receptor in parathyroid tumors

    Författare :Pamela Correa; Martin Bäckdahl; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; hyperparathyroidism; loss of heterozygoisty; vitamin D; vitamin D receptor; polymorphism; hydroxylase; genetics; tumorigenesis; Kirurgi; Surgery; Kirurgi; Surgery; kirurgi;

    Sammanfattning : Correa, P. 2002. Vitamin D and its receptor in parathyroid tumors. Acta Universitatis Upsaliensis. LÄS MER

  5. 4. Role of Bone Morphogenetic Proteins for Catecholaminergic Neurons in Vivo : Use of the Tyrosine Hydroxylase Locus for Cell-Specific inactivation of Signal Transduction

    Författare :Dmitry Usoskin; Ted Ebendal; Ernest Arenas; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurosciences; Tyrosine Hydroxylase; Bone Morphogenetic Proteins BMP ; Transforming Growth Factor-β TGF-β ; tissue-specific knockout; Parkinson s disease; Neurovetenskap; Neurology; Neurologi;

    Sammanfattning : Members of the Transforming Growth factor-β (TGF-β) superfamily and its subclass Bone Morphogenetic Proteins (BMP) play important roles for nervous system development. In order to study the BMP role for catecholaminergic neurons in vivo, we generated three knock-in mice, expressing the transgenes specifically in the targeting cells. LÄS MER

  7. 5. Studies on sterol 27-hydroxylase (CYP27A1)

    Författare :Sara von Bahr; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Human sterol 27-hydroxylase (CYP27A1) has been studied in the present thesis with focus on substrate specificity and possible role of the enzyme for prevention of accumulation of cholesterol and cholestanol in tissues. Attempts have been made to evaluate a metabolic pathway to bile acids in human primary hepatocytes that starts with a 27-hydroxylation of cholesterol catalyzed by CYP27A1. LÄS MER