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Keywords: emerin
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Articles
Biochem Soc Trans (2011) 39 (6): 1698–1704.
Published: 21 November 2011
.... 1 email giovanna.lattanzi@cnr.it 14 7 2011 © The Authors Journal compilation © 2011 Biochemical Society 2011 emerin Emery–Dreifuss muscular dystrophy (EDMD) prelamin A progeroid laminopathy SUN1 SUN2 The LMNA gene (OMIM *150330), encoding the A-type lamins...
Articles
Biochem Soc Trans (2008) 36 (6): 1354–1358.
Published: 19 November 2008
...Matthew A. Wheeler; Juliet A. Ellis Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss...
Articles
Biochem Soc Trans (2008) 36 (6): 1335–1338.
Published: 19 November 2008
...Susan C. Brown; Richard J. Piercy; Francesco Muntoni; Caroline A. Sewry EDMD (Emery–Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C ( LMNA ) located at 1q21.2–q21.3 or emerin ( EMD ) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations...
Articles
Biochem Soc Trans (2008) 36 (6): 1344–1349.
Published: 19 November 2008
... and EMD , responsible for EDMD (Emery–Dreifuss muscular dystrophy). LMNA encodes A-type lamins, whereas EMD encodes emerin, both located in the nuclear envelope. Mutation or loss of A-type lamins or emerin in the terminally differentiated myonuclei of muscle fibres results in muscle damage. Importantly...
Articles
Biochem Soc Trans (2008) 36 (6): 1378–1383.
Published: 19 November 2008
... community. It is a permanent network of core filaments underlying thicker fibres which is proposed to be a platform for numerous important nuclear activities such as transcription and DNA repair. Interestingly, A- and B-type lamin proteins and emerin are components of this nuclear structure; however...
Articles
Biochem Soc Trans (2008) 36 (6): 1384–1388.
Published: 19 November 2008
... cycle is not apparent in cells that have mutant lamin A or that are lacking emerin. We discuss the possibility that there is a functional intranuclear complex comprising four proteins: nuclear actin, lamin A, emerin and nuclear myosin. If any of the components are lacking or aberrant, then the nuclear...