Sökning: "SCA7"

Visar resultat 1 - 5 av 11 avhandlingar innehållade ordet SCA7.

  1. 1. Imaging the molecular pathways of neurodegeneration : New pathologies of SCA7

    Författare :Frida Niss; Anna-Lena Ström; Einar Hallberg; Georg Auberger; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurodegeneration; SCA7; Polyglutamine diseases; RNA binding proteins; Aggregation; Stress granules; Chromatin organization; Quantitative image analysis; Nuclear envelope; Nuclear pore complex; Nucleocytoplasmic transport; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Sammanfattning : Spinocerebellar Ataxia type 7 (SCA7) is a genetic neurodegenerative disease with lethal outcome that affects the cerebellum and retina of patients. This thesis focuses on characterising molecular pathological pathways that cause toxicity and cell death in SCA7. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  7. 5. RNA binding proteins and epigenetics in SCA7

    Författare :Frida Niss; Anna-Lena Ström; Ann-Kristin Östlund-Farrants; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Sammanfattning : Polyglutamine diseases are a group of nine disorders that includes, among others SCA7. The common denominator is an expanded glutamine tract in the respective disease protein caused by unstable replication during meiosis. LÄS MER