Sökning: "Conformational disease"
Visar resultat 1 - 5 av 74 avhandlingar innehållade orden Conformational disease.
1. Susceptibility genes in conformational diseases
Sammanfattning : Conformational diseases are characterized by protein misfolding and aggregation in the affected tissue. The aim of this thesis was to find genetic support for mechanisms in common for three prevalent ... LÄS MER
2. Deciphering Carbohydrate Structure : From NMR Chemical Shifts to Conformational Analysis
Sammanfattning : Carbohydrates are ubiquitous in nature and exhibit a multitude of roles. Besides nucleic and amino acids, they can be regarded as the third alphabet of life. They are used as energy source to fuel the cells, as structural building blocks and play a key role in cellular recognition processes. LÄS MER
3. Modeling of biomembranes: from computational toxicology to simulations of neurodegenerative diseases
Sammanfattning : It was known from the middle of the last century that a cell-membrane is a lipid bilayer. Since that time a large number of experimental studies has been done in order to see how a certain molecule can penetrate through a membrane. LÄS MER
4. Characterization of the novel “Uppsala mutation” causing a familial form of early onset Alzheimer’s disease
Sammanfattning : The Alzheimer’s disease (AD) brain displays extracellular plaques of amyloid-β (Aβ), neurofibrillary tangles of tau and neuronal loss. The 40-42 amino acid Aβ peptide is formed from the amyloid precursor protein (APP) by β-secretase and γ-secretase, while α-secretase prevents Aβ generation. LÄS MER
5. Myosin myopathy. A new disease entity
Sammanfattning : By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy chaingenes, we introduce a new entity within the field of neuromuscular disorders: Myosin myopathyThe first myopathy affected a family in western Sweden. Previous linkage analysis had located the gene tochromosome 17p13. LÄS MER