Welcome to cider

Field	Query

	Field	Term

General Information:

Id:	12,206
Diseases:	Emery-Dreifuss muscular dystrophy
Organism:	Homo sapiens
Publication type:	review
Reference:	Meinke P et al.(2011) The LINC complex and human disease Biochem. Soc. Trans. 39: 1693-1697 [PMID: 22103509]

Interaction Information:

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119689	gene/protein EMD is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119718	gene/protein LMNA is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119719	gene/protein SUN1 is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119720	gene/protein SUN2 is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119721	gene/protein SYNE1 is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119722	gene/protein SYNE2 is_part_of complex/PPI LINC complex

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119723	complex/PPI LINC complex is localized in cellular component nuclear envelope

Comment	Emerin was the first LINC component associated with a human disease, namely EDMD (Emery‚ÄďDreifuss muscular dystrophy). Later on, other components of the LINC complex, such as lamins A/C and small isoforms of nesprin-1 and nesprin-2, were found to be associated with EDMD, reflecting a genetic heterogeneity that has not been resolved so far. Only approximately 46% of the EDMD patients can be linked to genes of LINC and non-LINC components, pointing to further genes involved in the pathology of EDMD. Obvious candidates are the LINC proteins SUN1 and SUN2.
Formal Description Interaction-ID: 119724	gene/protein EMD affects_activity of disease Emery-Dreifuss muscular dystrophy 1, X-linked

Comment	Emerin was the first LINC component associated with a human disease, namely EDMD (Emery‚ÄďDreifuss muscular dystrophy). Later on, other components of the LINC complex, such as lamins A/C and small isoforms of nesprin-1 and nesprin-2, were found to be associated with EDMD, reflecting a genetic heterogeneity that has not been resolved so far. Only approximately 46% of the EDMD patients can be linked to genes of LINC and non-LINC components, pointing to further genes involved in the pathology of EDMD. Obvious candidates are the LINC proteins SUN1 and SUN2.
Formal Description Interaction-ID: 119725	gene/protein LMNA affects_activity of disease Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Comment	Emerin was the first LINC component associated with a human disease, namely EDMD (Emery‚ÄďDreifuss muscular dystrophy). Later on, other components of the LINC complex, such as lamins A/C and small isoforms of nesprin-1 and nesprin-2, were found to be associated with EDMD, reflecting a genetic heterogeneity that has not been resolved so far. Only approximately 46% of the EDMD patients can be linked to genes of LINC and non-LINC components, pointing to further genes involved in the pathology of EDMD. Obvious candidates are the LINC proteins SUN1 and SUN2.
Formal Description Interaction-ID: 119726	gene/protein LMNA affects_activity of disease Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Comment	Emerin was the first LINC component associated with a human disease, namely EDMD (Emery‚ÄďDreifuss muscular dystrophy). Later on, other components of the LINC complex, such as lamins A/C and small isoforms of nesprin-1 and nesprin-2, were found to be associated with EDMD, reflecting a genetic heterogeneity that has not been resolved so far. Only approximately 46% of the EDMD patients can be linked to genes of LINC and non-LINC components, pointing to further genes involved in the pathology of EDMD. Obvious candidates are the LINC proteins SUN1 and SUN2.
Formal Description Interaction-ID: 119727	gene/protein SYNE1 affects_activity of disease Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Comment	Emerin was the first LINC component associated with a human disease, namely EDMD (Emery‚ÄďDreifuss muscular dystrophy). Later on, other components of the LINC complex, such as lamins A/C and small isoforms of nesprin-1 and nesprin-2, were found to be associated with EDMD, reflecting a genetic heterogeneity that has not been resolved so far. Only approximately 46% of the EDMD patients can be linked to genes of LINC and non-LINC components, pointing to further genes involved in the pathology of EDMD. Obvious candidates are the LINC proteins SUN1 and SUN2.
Formal Description Interaction-ID: 119728	gene/protein SYNE2 affects_activity of disease Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Comment	Screening of binding partners of LINC components as candidates identified LUMA (TMEM43), encoding a binding partner of emerin and lamins, as a gene involved in atypical EDMD.
Formal Description Interaction-ID: 119729	gene/protein TMEM43 affects_activity of disease Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119730	complex/PPI LINC complex interacts (colocalizes) with cellular component actin filament

Comment	The LINC (linker of nucleoskeleton and cytoskeleton) complex is a proposed mechanical link tethering the nucleo- and cyto-skeleton via the NE (nuclear envelope). The LINC components emerin, lamin A/C, SUN1,SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins. Besides the mechanostructural functions, the LINC complex is also involved in signalling pathways and gene regulation.
Formal Description Interaction-ID: 119731	complex/PPI LINC complex interacts (colocalizes) with gene/protein LMNB

Comment	Clinically, EDMD is characterized by early contractures of elbow and Achilles tendons as well as postcervical muscles that lead to rigidity of the spine and the neck, also known as rigid spine. Frequently, contractures of the Achilles tendons without muscle involvement in the first decade of life are observed as the first signs of the disease. Contractures of the elbows and rigid spine appear mostly in early adolescence.Slowly progressive muscle weakness and wasting may occur in early childhood, typically affecting particular muscle groups. Initially, humero-peroneal distribution can beobserved: proximally the upper extremities and distally thelower extremities are affected. In later stages of the disease,the proximal lower extremities will also be affected. Usually, the patients remain ambulant, but, in severe cases, patients may become wheelchair-bound. Cardiomyopathy is clinically the most important aspect of the disease, usually starting after the occurrence of muscular weakness in early adulthood. At onset, conduction defects can be observed, which lead to a high risk of sudden heart death and require pacemaker or defibrillator implantation and, in rare cases, heart transplantation.
Formal Description Interaction-ID: 119732	disease Emery-Dreifuss muscular dystrophy increases_activity of phenotype progressive muscle weakness

Comment	Clinically, EDMD is characterized by early contractures of elbow and Achilles tendons as well as postcervical muscles that lead to rigidity of the spine and the neck, also known as rigid spine. Frequently, contractures of the Achilles tendons without muscle involvement in the first decade of life are observed as the first signs of the disease. Contractures of the elbows and rigid spine appear mostly in early adolescence.Slowly progressive muscle weakness and wasting may occur in early childhood, typically affecting particular muscle groups. Initially, humero-peroneal distribution can beobserved: proximally the upper extremities and distally thelower extremities are affected. In later stages of the disease,the proximal lower extremities will also be affected. Usually, the patients remain ambulant, but, in severe cases, patients may become wheelchair-bound. Cardiomyopathy is clinically the most important aspect of the disease, usually starting after the occurrence of muscular weakness in early adulthood. At onset, conduction defects can be observed, which lead to a high risk of sudden heart death and require pacemaker or defibrillator implantation and, in rare cases, heart transplantation.
Formal Description Interaction-ID: 119733	disease Emery-Dreifuss muscular dystrophy increases_activity of disease Cardiomyopathy

Comment	An example for a non-LINC component is the FHL1 (fourand a half LIM domain 1) encoded by the X-linked FHL1gene that is associated with EDMD (EDMD6, OMIM 300696). All FHL1mutations associated with EDMD cause changes in the distal region of the gene and probably destroy one of the four LIM domains or an NLS (nuclear localization signal) of the three known isoforms of the protein.
Formal Description Interaction-ID: 119734	gene/protein FHL1 affects_activity of disease Emery-Dreifuss muscular dystrophy 6, X-linked

Comment	EDMD-causing mutations in STA/ EMD, disrupting emerin binding to the transcriptional repressor Btf (Bcl-2-associated transcription factor), GCL (germ cell-less) and BAF (barrier to autointegration factor) provide the first glimpses into LINC being involved in gene regulation and thus opening a new avenue for functional studies.
Formal Description Interaction-ID: 119735	gene/protein EMD interacts (colocalizes) with gene/protein BCLAF1

Comment	EDMD-causing mutations in STA/ EMD, disrupting emerin binding to the transcriptional repressor Btf (Bcl-2-associated transcription factor), GCL (germ cell-less) and BAF (barrier to autointegration factor) provide the first glimpses into LINC being involved in gene regulation and thus opening a new avenue for functional studies.
Formal Description Interaction-ID: 119736	gene/protein EMD interacts (colocalizes) with gene/protein GMCL1

Comment	EDMD-causing mutations in STA/ EMD, disrupting emerin binding to the transcriptional repressor Btf (Bcl-2-associated transcription factor), GCL (germ cell-less) and BAF (barrier to autointegration factor) provide the first glimpses into LINC being involved in gene regulation and thus opening a new avenue for functional studies.
Formal Description Interaction-ID: 119737	gene/protein EMD interacts (colocalizes) with gene/protein BANF1

Home
Contact

The Helmholtz Zentrum München Imprint and Privacy Policy apply.

© 2013 - Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH) Ingolstädter Landstraße 1, D-85764 Neuherberg, Germany

Disclaimer: IBIS Databases and associated information are protected by copyright. This server and its associated data and services are for academic, non-commercial use only. The Helmholtz Zentrum München has no liability for the use of results, data or information which have been provided through this server. Neither the use for commercial purposes, nor the redistribution of IBIS database files to third parties nor the distribution of parts of files or derivative products to any third parties is permitted. Commercial users shall contact the Helmholtz Zentrum München for a separate users license.