The dystrophin protein family - Hazai, Diana
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Duchenne muscular dystrophy (DMD)is one of the most common, severe human disease. Mutations in the DMD gene are responsible for the disorder. Due to the mutations, dystrophin proteins are not expressed or expressed in functionally impaired form. The dystrophins are members of the dystrophin-associated protein complex (DAPC)located in the sarcolemma in the striated muscle. The DAPC links the extracellular matrix to the actin-based cytoskeleton and anchors signalling molecules. DAPC proteins are also localized in neurons and glia cells within the central nervous system and they interact with…mehr

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Produktbeschreibung
Duchenne muscular dystrophy (DMD)is one of the most common, severe human disease. Mutations in the DMD gene are responsible for the disorder. Due to the mutations, dystrophin proteins are not expressed or expressed in functionally impaired form. The dystrophins are members of the dystrophin-associated protein complex (DAPC)located in the sarcolemma in the striated muscle. The DAPC links the extracellular matrix to the actin-based cytoskeleton and anchors signalling molecules. DAPC proteins are also localized in neurons and glia cells within the central nervous system and they interact with each other building up different types of DAPCs. Finding out the localization, colocalization of the DAPC proteins and the construction of the DAPC within the brain was the aim of the research and we also analyzed what kind of changes might occur with DAPC proteins without dystrophin in dystrophin- deficient mice. There are several DAPC protein variants located around the capillaries of the brain which might play a role in the blood-brain barrier. We supposed that in other organs constituting barriers,like lung and testis there are also DAPCs.
Autorenporträt
I took a degree in Zoology in 2002 at the Szent István University, Faculty of Veterinary Science in Budapest, Hungary and started my PhD studies in the same year at the Department of Anatomy and Histology. Since then I keep on doing scientific work while actively participate in the education as well-by giving seminars at the University.