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Keywords: muscular dystrophyClose
Biochem Soc Trans (2019) 47 (5): 1393–1404.
Published: 24 September 2019
... focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations...
Valeria Marrocco, Piera Fiore, Luca Madaro, Annunziata Crupi, Biliana Lozanoska-Ochser, Marina Bouché
Biochem Soc Trans (2014) 42 (6): 1550–1555.
Published: 17 November 2014
... a comprehensive picture is still lacking. Moreover, we recently showed that lack of PKCθ in a mouse model of Duchenne muscular dystrophy (DMD) ameliorates the progression of the disease. In the present article, we review new developments in our understanding of the involvement of PKCθ in intracellular mechanisms...
Biochem Soc Trans (2011) 39 (1): 336–339.
Published: 19 January 2011
...Jane E. Hewitt During the last 10 years it has become apparent that a significant subset of inherited muscular dystrophy is caused by errors in the glycosylation of α-dystroglycan. Many of these dystrophies are also associated with abnormalities of the central nervous system. Dystroglycan has...
Biochem Soc Trans (2005) 33 (6): 1254–1255.
Published: 26 October 2005
... actin dystroglycan extracellular matrix ezrin muscular dystrophy proteolytic processing The interaction between a cell and its surroundings is regulated by adhesion molecules that allow the ECM (extracellular matrix) to communicate with the underlying cell cytoskeleton. One such adhesion...