Sökning: "ATXN7"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet ATXN7.

  1. 1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

    Författare :Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

    Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. 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. Study of molecular mechanism(s) underlying neurodegeneration in SCA7 disease : Role of NOX enzymes and oxidative stress

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

    Sammanfattning : 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. LÄS MER

  5. 4. Molecular mechanism(s) underlying neurodegeneration in SCA7 disease : Role of NOX enzymes and oxidative stress

    Författare :Abiodun Ajayi; Anna-Lena Ström; Ana Cristina Rego; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; neurodegeneration; oxidative stress; NOX; metabolism; p53; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the SCA7 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. LÄS MER

  7. 5. 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