Search for dissertations about: "tyrosine hydroxylase"

Showing result 1 - 5 of 73 swedish dissertations containing the words tyrosine hydroxylase.

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

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

    Abstract : 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. READ MORE

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

    Author : Dmitry Usoskin; Ted Ebendal; Ernest Arenas; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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;

    Abstract : 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. READ MORE

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

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

    Abstract : 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. READ MORE

  4. 4. Alopecia and vitiligo in autoimmune polyendocrine syndrome type I

    Author : Håkan Hedstrand; Uppsala universitet; []
    Keywords : Medical sciences; APS I; autoantigen; vitiligo; alopecia areata; cDNA-library; immunoscreening; tyrosine hydroxylase; SOX9; SOX10; molecular mimicry; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Abstract : Autoimmune polyendocrine syndrome type I (APS I) is a recessively inherited disease caused by mutations in a recently identified gene, AIRE, on human chromosome 21. APS I patients are affected by autoimmune destruction of multiple endocrine glands and other organs as well as ectodermal structures. READ MORE

  5. 5. GDNF gene delivery in an animal model of Parkinson's disease. Long-term effects on intact, injured and transplanted dopamine neurons using lentiviral gene transfer

    Author : Biljana Georgievska; Neurobiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurologi; Neurology; neuropsykologi; neurofysiologi; neurophysiology; transplantation; tyrosine hydroxylase; tetracycline; striatum; substantia nigra; sprouting; regulation; neuroprotection; lentivirus; gene therapy; GDNF; behavior; dopamine; neuropsychology;

    Abstract : Parkinson's disease is characterized by a progressive degeneration of dopaminergic neurons in the substantia nigra, leading to a loss of dopamine in the target structure striatum and development of motor symptoms, such as bradykinesia, rigidity and tremor. New experimental treatment strategies for Parkinson's disease are aimed at either preventing the degeneration of the dopaminergic neurons, or at restoring dopamine in the striatum by fetal dopaminergic transplants. READ MORE