Results 171 to 180 of about 6,334 (202)

Emerin in health and disease [PDF]

Seminars in Cell and Developmental Biology, 2014
Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins A and C and FHL1. Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. This review will specifically focus on emerin function and the current thinking for how loss or mutations in emerin cause EDMD.
James M Holaska
exaly   +3 more sources

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Emerin presence in platelets

Acta Neuropathologica, 2000
Emerin is an almost ubiquitous protein which is abnormal in X-linked Emery-Dreifuss muscular dystrophy (EMD), a syndrome characterized by muscle weakness, joint contractures and cardiac arrhythmia. Emerin is localized in the cells at the nuclear rim and its function is still unknown.
Stefano Squarzoni, Patrizia Sabatelli, Stefania Petrini   +2 more
exaly   +3 more sources

Emerin Represses STAT3 Signaling through Nuclear Membrane-Based Spatial Control [PDF]

International Journal of Molecular Sciences, 2021
Emerin is the inner nuclear membrane protein involved in maintaining the mechanical integrity of the nuclear membrane. Mutations in EMD encoding emerin cause Emery–Dreifuss muscular dystrophy (EDMD). Evidence is accumulating that emerin regulation of specific gene expression is associated with this disease, but the exact function of emerin has not been
Byongsun Lee, Jaekyung Shim
exaly   +3 more sources

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression

Neuromuscular Disorders, 2000
Emerin, the product of the gene responsible for X-linked Emery-Dreifuss muscular dystrophy (EDMD), has a ubiquitous tissue distribution and is localised to the nuclear envelope. We present here the relationship between emerin protein expression, nuclear localization and clinical phenotype for two distal mutations identified in unrelated EDMD patients ...
John Kendrick-Jones
exaly   +4 more sources

The molecular basis of emerin-emerin and emerin-BAF interactions.

Journal of cell science, 2015
Emerin is a conserved membrane component of nuclear lamina structure. Here, we report an advance in understanding the molecular basis of emerin function: intermolecular emerin-emerin association. There were two modes: one mediated by association of residues 170-220 in one emerin molecule to residues 170-220 in another, and the second involving residues
Jason M, Berk, Dan N, Simon, Clifton R, Jenkins-Houk, Jason W, Westerbeck, Line M, Grønning-Wang, Cathrine R, Carlson, Katherine L, Wilson   +6 more
openaire   +2 more sources

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

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

The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction [PDF]

International Journal of Molecular Sciences, 2020
β-dystroglycan (β-DG) assembles with lamins A/C and B1 and emerin at the nuclear envelope (NE) to maintain proper nuclear architecture and function. To provide insight into the nuclear function of β-DG, we characterized the interaction between β-DG and emerin at the molecular level. Emerin is a major NE protein that regulates multiple nuclear processes
Ricardo Mondragon-Gonzalez, Jhon Rivera-Monroy, James M Holaska   +2 more
exaly   +10 more sources

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

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.
Martin, Gareiss, Kathrin, Eberhardt, Eleonora, Krüger, Sebastian, Kandert, Carolin, Böhm, Hanswalter, Zentgraf, Clemens R, Müller, Marie-Christine, Dabauvalle   +7 more
exaly   +3 more sources