Sökning: "Sarcomeric proteins"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Sarcomeric proteins.

  1. 1. Cellular studies of neuromuscular disorders related to the sarcomeric proteins

    Författare :Saba Abdul-Hussein; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; myogenesis; myoblast; sarcomeric myopathy; TPM2; TRIM54; TRIM63;

    Sammanfattning : Sarcomere is the basic unit of cardiac and skeletal muscle contraction and its proper function requires an invariant organization of this structure. Mutations in sarcomeric proteins are known to cause increasing number of different cardiac and skeletal muscle diseases. LÄS MER

  3. 2. Functional role of cytoskeletal, contractile and regulatory proteins in muscle disease

    Författare :Mei Li; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The function of skeletal muscle is an essential component of animal physiology and daily life. Hereditary muscle diseases are comparatively rare in humans, but often very severe. The disease causes are heterogeneous, defects in nerves, intracellular components, structural proteins and the contractile apparatus can be involved. LÄS MER

  4. 3. Intensive Care Unit Muscle Wasting : Skeletal Muscle Phenotype and Underlying Molecular Mechanisms

    Författare :Sudhakar Reddy Aare; Larsson Lars; Rooyackers Olav; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acute quadriplegic myopathy; gene expression; myosin; heat shock proteins; mechanical ventilation; myostatin; sepsis; corticosteroids; diaphragm; Clinical Neurophysiology; Klinisk neurofysiologi;

    Sammanfattning : Acute quadriplegic myopathy (AQM), or critical illness myopathy, is a common debilitating acquired disorder in critically ill intensive care unit (ICU) patients characterized by generalized muscle wasting and weakness of limb and trunk muscles. A preferential loss of the thick filament protein myosin is considered pathognomonic of this disorder, but the myosin loss is observed relatively late during the disease progression. LÄS MER

  5. 4. Role of intermediate filament desmin in development of desmin-related myopathy

    Författare :Natalia Smolina; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Desmin is a major intermediate filament of muscle cells, serving to transmit mechanical forces and propagate mechanochemical signals, to coordinate contraction and relaxation cycles, and to stabilize the positioning of cellular organelles, e.g. mitochondria. LÄS MER

  7. 5. Muscle diseases with damaged sarcomeres - causes and consequences

    Författare :Monica Ohlsson; Göteborgs universitet; []
    Nyckelord :congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Sammanfattning : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. LÄS MER