Search for dissertations about: "Polyglutamine"

Showing result 1 - 5 of 18 swedish dissertations containing the word Polyglutamine.

  2. 1. 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

  4. 2. 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

  5. 3. Studies of polyglutamine expanded Ataxin-7 toxicity

    Author : Xin Yu; Anna-Lena Ström; Albert La Spada; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; neurodegeneration; SCA7; protein degradation; aggregation; p53; oxidative stress; NOX; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Abstract : Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant inherited neurodegenerative disease for which there is no cure. SCA7 belongs to the group of polyglutamine disorders, which are all caused by the expansion of a polyglutamine tract in different disease proteins. READ MORE

  6. 4. 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

  7. 5. 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