Sökning: "tyrosine hydroxylase"
Visar resultat 1 - 5 av 71 avhandlingar innehållade orden tyrosine hydroxylase.
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. Role of Bone Morphogenetic Proteins for Catecholaminergic Neurons in Vivo : Use of the Tyrosine Hydroxylase Locus for Cell-Specific inactivation of Signal Transduction
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
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
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. 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
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