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Cellular studies of neuromuscular disorders related to the sarcomeric proteins


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Title: Cellular studies of neuromuscular disorders related to the sarcomeric proteins
Authors: Abdul-Hussein, Saba
Issue Date: 21-Nov-2012
University: University of Gothenburg. Sahlgrenska Academy
Institution: Institute of Biomedicine. Department of Pathology
Parts of work: I. Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors. Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet 2010;47:575-577
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II. Saba Abdul-Hussein, Peter F.M. van der Ven, Homa Tajsharghi. Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells. Submitted

III. Saba Abdul-Hussein, Karin Rahl, Ali-Reza Moslemi, Homa Tajsharghi. Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures. Submitted

IV. Montse Olivé, Saba Abdul-Hussein, Anders Oldfors, Dieter O. Fürst, Peter F. M. van der Ven, José Gonzalez-Costello, Laura Gonzalez-Mera, Benjamin Torrejón- Escribano, Josefina Alió, Adolf Pou, Isidro Ferrer, Homa Tajsharghi. MuRF1 and MuRF3 mutations cause a new protein aggregate myopathy and cardiomyopathy. Manuscript
Date of Defence: 2013-03-21
Disputation: Torsdagen den 21 mars 2013, Kl 9.00, Hörsal Arvid Carlsson, Academicum, Medicinaregatan 3, Göteborg
Degree: Doctor of Philosophy (Medicine)
Publication type: Doctoral thesis
Keywords: myogenesis
myoblast
sarcomeric myopathy
TPM2
TRIM54
TRIM63
Abstract: 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. The front line in research on muscle diseases is at present to define the genetic background and pathogenesis of these diseases. The potential for development of effective therapies depends on elucidation of the molecular and... more
ISBN: 978-91-628-8584-7
URI: http://hdl.handle.net/2077/30559
Appears in Collections:Doctoral Theses from Sahlgrenska Academy
Doctoral Theses from University of Gothenburg / Doktorsavhandlingar från Göteborgs universitet
Doctoral Theses / Doktorsavhandlingar Institutionen för biomedicin

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