Sökning: "myosin heavy-chain IIa"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden myosin heavy-chain IIa.

1. 1. Myosin myopathy. A new disease entity

   Författare :Homa Tajsharghi; Göteborgs universitet; []
   Nyckelord :Neuromuscular disorders; Myosin myopathy; Myosin heavy chain; Myosin storage myopathy;

   Sammanfattning : By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy chaingenes, we introduce a new entity within the field of neuromuscular disorders: Myosin myopathyThe first myopathy affected a family in western Sweden. Previous linkage analysis had located the gene tochromosome 17p13. LÄS MER

3. 2. Celluar and Molecular Mechanisms Underlying Regulation of Skeletal Muscle Contraction in Health and Disease

   Författare :Mingxin Li; Lars Larsson; Tomas Winkler; Alf Månsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Scaling; myosin heavy chain; in vitro motility assay; myopathy; Clinical neurophysiology; Klinisk neurofysiologi; Neuroscience; Neurovetenskap;

   Sammanfattning : Morphological changes, genetic modifications, and cell functional alterations are not always parallel. Therefore, assessment of skeletal muscle function is an integral part of the etiological approach. LÄS MER

4. 3. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

   Författare :Niklas Darin; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

   Sammanfattning : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. LÄS MER

5. 4. Human extraocular muscles : molecular diversity of a unique muscle allotype

   Författare :Daniel Kjellgren; Fatima Pedrosa-Domellöf; Lars-Erik Thornell; Lillemor Wachtmeister; John Porter; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ophtalmology; extraocular; muscle; myosin; protein c; laminin; serca; immunocytochemistry; human; Oftalmiatrik; Ophtalmology; Oftalmologi; oftalmiatrik; Ophtalmology;

   Sammanfattning : Introduction: The extraocular muscles (EOMs) are considered a separate class of skeletal muscle, allotype. Myosin is the major contractile protein in muscle. The myosin heavy chain (MyHC) isoforms are the best molecular markers of functional heterogeneity of muscle fibers. LÄS MER

7. 5. A novel single skeletal muscle cell in vitro motility assay : effects of aging and non-enzymatic glycosylation on myosin function

   Författare :Peter Höök; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :In vitro motility; motility speed; aging; single muscle fiber; myosin isoform; temperature; scaling; glycation;

   Sammanfattning : The aims of this study were to develop a single skeletal muscle fiber in vitro motility assay, and to employ the assay in order to study the effects of aging and non-enzymatic glycosylation on the mechanical properties of the motor protein myosin in an attempt to improve our understanding of the molecular mechanisms underlying the aging-related impairment in regulation of muscle function. Myosin was extracted from a millimeter short single muscle fiber segment directly onto a nitrocellulosecoated coverslip for subsequent analyses of the functional properties of the motor protein. LÄS MER