Search for dissertations about: "Polyglutamine disease"

Showing result 1 - 5 of 17 swedish dissertations containing the words Polyglutamine disease.

2. 1. Study of molecular mechanism(s) underlying neurodegeneration in SCA7 disease : Role of NOX enzymes and oxidative stress

   Author : Abiodun Ajayi; Anna-Lena Ström; Boris Zhivotosky; Bengt Mannervik; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; neurodegeneration; polyglutamine; oxidative stress; metabolism; NADPH oxidase; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the SCA7/ATXN7 gene resulting in progressive ataxia and retinal dystrophy. SCA7 belongs to a group of neurodegenerative disorders called polyglutamine (polyQ) diseases, that share the common feature of glutamine tract expansions within otherwise unrelated proteins. READ MORE

4. 2. Expression and functional analysis of the SCA7 disease protein ataxin-7

   Author : Anna-Lena Ström; Monica Holmberg; Patrik Brundin; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Polyglutamine disease; CAG repeat; Spinocerebellar ataxia type 7; Molekylärbiologi; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease characterized by cerebellar ataxia and visual problems due to a progressive and selective loss of neurons within the cerebellum, brainstem and retina. The disease is caused by the expansion of a CAG repeat in the first coding exon of the SCA7 gene, resulting in an expanded polyglutamine domain in the N-terminal part of ataxin-7, a protein of unknown function. READ MORE

5. 3. The Molecular Chaperone DNAJB6 - A Suppressor of Disease Related Amyloid Fibril Formation

   Author : Cecilia Månsson; Biokemi och Strukturbiologi; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; DNAJ; HSP40; molecular chaperones; amyloid fibrils; Alzheimer’s disease; Huntington’s Disease; crosslinking mass spectrometry; chemical kinetics; aggregation; fibril formation;

   Abstract : Several neurodegenerative diseases are caused by peptides or proteins forming amyloid fibrils such as the Aβ peptide involved in Alzheimer’s disease and the huntingtin exon-1 with a prolonged polyglutamine (polyQ) stretch involved in Huntington’s disease. The ability to form amyloid fibrils is an intrinsic feature in all proteins. READ MORE

6. 4. STUDIES OF FACTORS AFFECTING INTRACELLULAR TOXICITY OF THE SCA7 DISEASE PROTEIN ATAXIN - 7 : FOCUS ON ATAXIN-7 DEGRADATION AND OXIDATIVE STRESS

   Author : Xin Yu; Anna-Lena Ström; Nico Dantuma; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Polyglutamine; SCA7; UPS; Autophagy; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is one of nine neurodegenerative disorders caused by expansion of CAG/polyglutamine repeats. Proteins carrying expanded polyglutamine (polyQ) domains are suggested to be resistant to degradation and aggregate. Furthermore, a negative correlation between aggregation and toxicity has been shown. READ MORE

7. 5. Studies of polyglutamine repeats and their biology in relation to disease

   Author : Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
   Keywords : trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

   Abstract : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. READ MORE