Sökning: "tyrosine hydroxylase"

Visar resultat 1 - 5 av 71 avhandlingar innehållade orden tyrosine hydroxylase.

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Olov Ekwall; [2001]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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

  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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Dmitry Usoskin; Ted Ebendal; Ernest Arenas; [2004]
    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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Neurology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin 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

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

    Detta är en avhandling från Umeå : Umeå centrum för molekylär patogenes (UCMP) (Teknisk-naturvetenskaplig fakultet)

    Författare :Fredrik Ekström; Uwe H. Sauer; Edward Hough; [2003]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biochemistry; PaPheOH; PheOH; PAH; phhA; phenylalanine hydroxylase; protein crystallography; a-actinin; microcrystal; ABD; CH-domain; Biokemi; NATURAL SCIENCES Chemistry Biochemistry; NATURVETENSKAP Kemi 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. 4. Alopecia and vitiligo in autoimmune polyendocrine syndrome type I

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Håkan Hedstrand; Uppsala universitet.; [2000]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical sciences; APS I; autoantigen; vitiligo; alopecia areata; cDNA-library; immunoscreening; tyrosine hydroxylase; SOX9; SOX10; molecular mimicry; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Sammanfattning : 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. LÄS MER

  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

    Detta är en avhandling från Biljana Georgievska, Div. Neurobiology, BMC A11, 221 84 Lund, Sweden

    Författare :Biljana Georgievska; [2004]
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER