Sökning: "Polyglutamine diseases"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden Polyglutamine diseases.

  1. 1. 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

  3. 2. 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

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

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

    Sammanfattning : 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. LÄS MER

  7. 5. The role of the ubiquitin-proteasome system in neurodegenerative disorders

    Författare :Lisette Gerridina Gezina Catharina Verhoef; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Degradation; green fluorescent protein GFP ; neurodegeneration; polyglutamine; proteasome; UBB 1; ubiquitin;

    Sammanfattning : Neurodegenerative disorders are a heterogeneous group of clinically and pathologically diverse diseases. The diseases are characterised by selective loss of neurons. in specific regions of the brain. The result is disruption of motor, sensory or cognitive systems, leading to severe disability of the patients. LÄS MER