Results 151 to 160 of about 4,236 (177)

Emerin and the Nuclear Lamina in Muscle and Cardiac Disease [PDF]

Circulation Research, 2008
The human genome is contained within the nucleus and is separated from the cytoplasm by the nuclear envelope. Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy.
James M Holaska
exaly   +3 more sources

Emerin Expression in Early Development of Xenopus laevis

European Journal of Cell Biology, 2005
Emerin is an integral protein of the inner nuclear membrane in the majority of differentiated vertebrate cells. In humans, deficiency of emerin causes a progressive muscular dystrophy of the Emery-Dreifuss type. The physiological role of emerin is poorly understood.
Marie-Christine Dabauvalle, Clemens R Müller, Hanswalter Zentgraf   +2 more
exaly   +3 more sources

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Direct Interaction between Emerin and Lamin A

Biochemical and Biophysical Research Communications, 2000
Emerin is the protein of the inner nuclear membrane that is affected by mutation in X-linked Emery-Dreifuss muscular dystrophy. The autosomal dominant form of the disease is caused by mutations in the lamin A/C gene. Several lines of circumstantial evidence have suggested an interaction of emerin with lamins in the nuclear lamina but direct interaction
L, Clements, S, Manilal, D R, Love, G E, Morris   +3 more
openaire   +2 more sources

Role of structural flexibility in the evolution of emerin

Journal of Theoretical Biology, 2015
Emerin is a short inner nuclear membrane protein with an LEM-domain at the N-terminal end and a transmembrane domain at the C-terminal end. The middle region of human emerin contains multiple binding motifs. Since emerin is often found in evolutionarily newer species, the functional conservation of emerin becomes an interesting topic. In this study, we
Jia, Yuan, Bin, Xue
openaire   +2 more sources

Interaction between Emerin and Nuclear Lamins

Journal of Biochemistry, 2001
Emerin is an inner nuclear membrane protein that is involved in X-linked recessive Emery-Dreifuss muscular dystrophy (X-EDMD). Although the function of this protein is still unknown, we revealed that C-terminus transmembrane domain-truncated emerin (amino acid 1-225) binds to lamin A with higher affinity than lamin C.
M, Sakaki, H, Koike, N, Takahashi, N, Sasagawa, S, Tomioka, K, Arahata, S, Ishiura   +6 more
openaire   +2 more sources

Emerin

The International Journal of Biochemistry & Cell Biology, 1999
Emerin encoded by the STA gene is the first nuclear protein linked with a muscular dystrophy. Emerin is a 34 kDa, predominantly hydrophilic protein with a single hydrophobic region supposed to serve as a transmembrane domain. It was classified as a type II integral membrane protein localized at the inner nuclear membrane/nuclear lamina with an ...
openaire   +2 more sources

Isolation and characterization of the complete mouse emerin gene

Mammalian Genome, 1997
Emery-Dreifuss muscular dystrophy (EMD) is an X-linked recessive disorder associated with muscle wasting, contractures, and cardiomyopathy. The responsible emerin gene has recently been identified and found to encode a serine-rich protein similar to lamina-associated protein 2 (LAP2), although the disease mechanism remains obscure.
K, Small, M, Wagener, S T, Warren
openaire   +2 more sources

Immunocytochemical detection of emerin within the nuclear matrix

Neuromuscular Disorders, 1997
Emerin, the protein whose production is altered in the X-linked form of Emery-Dreifuss muscular distrophy, has been hypothesized to be associated with the nuclear matrix on the basis of biochemical studies. In addition, immunocytochemical data reported its localization at the nuclear periphery, on the nuclear lamina, in sections of several normal ...
S, Squarzoni, P, Sabatelli, A, Ognibene, D, Toniolo, L, Cartegni, F, Cobianchi, S, Petrini, L, Merlini, N M, Maraldi   +8 more
openaire   +2 more sources

Emerin expression at the early stages of myogenic differentiation

Differentiation, 2000
Emerin is an ubiquitous protein localized at the nuclear membrane of most cell types including muscle cells. The protein is absent in most patients affected by the X-linked form of Emery-Dreifuss muscular dystrophy, a disease characterized by slowly progressive muscle wasting and weakness, early contractures of the elbows, Achilles tendons, and post ...
G. Lattanzi, A. Ognibene, P. Sabatelli, C. Capanni, D. Toniolo, M. Columbaro, S. Santi, RICCIO, Massimo, L. Merlini, N. M. Maraldi, S. Squarzoni   +10 more
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Emerin and cardiomyopathy in Emery–Dreifuss muscular dystrophy

Neuromuscular Disorders, 1999
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-threatening progressive cardiomyopathy with conduction defect, early onset joint contractures and slow progressive muscle weakness in scapulo-humero-peroneal distribution.
M, Funakoshi, Y, Tsuchiya, K, Arahata
openaire   +2 more sources