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Sarcospan

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https://www.readbyqxmd.com/read/29932866/dna-methylation-of-sspn-is-linked-to-adipose-tissue-distribution-and-glucose-metabolism
#1
Maria Keller, Matthias Klös, Kerstin Rohde, Jacqueline Krüger, Tabea Kurze, Arne Dietrich, Michael R Schön, Daniel Gärtner, Tobias Lohmann, Miriam Dreßler, Michael Stumvoll, Matthias Blüher, Peter Kovacs, Yvonne Böttcher
DNA methylation is a crucial epigenetic mechanism in obesity and fat distribution. We explored the Sarcospan ( SSPN) gene locus by using genome-wide data sets comprising methylation and expression data, pyrosequencing analysis in the promoter region, and genetic analysis of an SNP variant rs718314, which was previously reported to associate with waist-to-hip ratio. We found that DNA methylation influences several clinical variables related to fat distribution and glucose metabolism, while SSPN mRNA levels showed directionally opposite effects on these traits...
June 22, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28702169/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#2
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28697784/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#3
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
July 11, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28593034/nanospan-an-alternatively-spliced-isoform-of-sarcospan-localizes-to-the-sarcoplasmic-reticulum-in-skeletal-muscle-and-is-absent-in-limb-girdle-muscular-dystrophy-2f
#4
Angela K Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L Wang, Jim Heighway, Ramón M Coral-Vázquez, Julio Vergara, Rachelle H Crosbie-Watson
BACKGROUND: Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix. Overexpression of SSPN ameliorates Duchenne muscular dystrophy in murine models. METHODS: Standard cloning approaches were used to identify nanospan, and nanospan-specific polyclonal antibodies were generated and validated...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28587652/nanospan-an-alternatively-spliced-isoform-of-sarcospan-localizes-to-the-sarcoplasmic-reticulum-in-skeletal-muscle-and-is-absent-in-limb-girdle-muscular-dystrophy-2f
#5
Angela K Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L Wang, Jim Heighway, Ramón M Coral-Vázquez, Julio Vergara, Rachelle H Crosbie-Watson
BACKGROUND: Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix. Overexpression of SSPN ameliorates Duchenne muscular dystrophy in murine models. METHODS: Standard cloning approaches were used to identify nanospan, and nanospan-specific polyclonal antibodies were generated and validated...
June 6, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28406175/nkx2-5-and-sarcospan-genetically-interact-in-the-development-of-the-muscular-ventricular-septum-of-the-heart
#6
Adam A Panzer, Suk D Regmi, DePorres Cormier, Megan T Danzo, Iuan-Bor D Chen, Julia B Winston, Alayna K Hutchinson, Diana Salm, Claire E Schulkey, Rebecca S Cochran, David B Wilson, Patrick Y Jay
The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer heart defects. Mutations of the cardiac transcription factor NKX2-5 cause cardiac malformations, including muscular VSDs. We describe here a genetic interaction between Nkx2-5 and Sarcospan (Sspn) that affects the risk of muscular VSD in mice. Sspn encodes a protein in the dystrophin-glycoprotein complex...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27798107/high-levels-of-sarcospan-are-well-tolerated-and-act-as-a-sarcolemmal-stabilizer-to-address-skeletal-muscle-and-pulmonary-dysfunction-in-dmd
#7
Elizabeth M Gibbs, Jamie L Marshall, Eva Ma, Thien M Nguyen, Grace Hong, Jessica S Lam, Melissa J Spencer, Rachelle H Crosbie-Watson
Duchenne muscular dystrophy (DMD) is a genetic disorder that causes progressive muscle weakness, ultimately leading to early mortality in affected teenagers and young adults. Previous work from our lab has shown that a small transmembrane protein called sarcospan (SSPN) can enhance the recruitment of adhesion complex proteins to the cell surface. When human SSPN is expressed at three-fold levels in mdx mice, this increase in adhesion complex abundance improves muscle membrane stability, preventing many of the histopathological changes associated with DMD...
December 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27382038/age-related-differences-in-dystrophin-impact-on-force-transfer-proteins-membrane-integrity-and-neuromuscular-junction-stability
#8
David C Hughes, George R Marcotte, Andrea G Marshall, Daniel W D West, Leslie M Baehr, Marita A Wallace, Perrie M Saleh, Sue C Bodine, Keith Baar
The loss of muscle strength with age has been studied from the perspective of a decline in muscle mass and neuromuscular junction (NMJ) stability. A third potential factor is force transmission. The purpose of this study was to determine the changes in the force transfer apparatus within aging muscle and the impact on membrane integrity and NMJ stability. We measured an age-related loss of dystrophin protein that was greatest in the flexor muscles. The loss of dystrophin protein occurred despite a twofold increase in dystrophin mRNA...
May 1, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/27060448/differential-expression-between-human-dermal-papilla-cells-from-balding-and-non-balding-scalps-reveals-new-candidate-genes-for-androgenetic-alopecia
#9
Elaine G Y Chew, Joanna H J Tan, Adiam W Bahta, Bryan S-Y Ho, Xingliang Liu, Tze Chiun Lim, Yee Yen Sia, Paul L Bigliardi, Stefanie Heilmann, Andrew C A Wan, Markus M Nöthen, Michael P Philpott, Axel M Hillmer
Androgenetic alopecia (AGA) is a common heritable and androgen-dependent hair loss condition in men. Twelve genetic risk loci are known to date, but it is unclear which genes at these loci are relevant for AGA. Dermal papilla cells (DPCs) located in the hair bulb are the main site of androgen activity in the hair follicle. Widely used monolayer-cultured primary DPCs in hair-related studies often lack dermal papilla characteristics. In contrast, immortalized DPCs have high resemblance to intact dermal papilla...
August 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26793286/the-biochemical-and-mass-spectrometric-profiling-of-the-dystrophin-complexome-from-skeletal-muscle
#10
REVIEW
Sandra Murphy, Kay Ohlendieck
The development of advanced mass spectrometric methodology has decisively enhanced the analytical capabilities for studies into the composition and dynamics of multi-subunit protein complexes and their associated components. Large-scale complexome profiling is an approach that combines the systematic isolation and enrichment of protein assemblies with sophisticated mass spectrometry-based identification methods. In skeletal muscles, the membrane cytoskeletal protein dystrophin of 427 kDa forms tight interactions with a variety of sarcolemmal, cytosolic and extracellular proteins, which in turn associate with key components of the extracellular matrix and the intracellular cytoskeleton...
2016: Computational and Structural Biotechnology Journal
https://www.readbyqxmd.com/read/26709803/the-sarcoglycan-complex-in-skeletal-muscle
#11
REVIEW
Hakan Tarakci, Joachim Berger
In skeletal muscle, the dystrophin-associated glycoprotein complex forms a link between the actin cytoskeleton and the extracellular matrix that is critical for muscle integrity. Within this complex resides the sarcoglycan subcomplex, which consists of four transmembrane glycoproteins (alpha-, beta-, gamma-, and delta-sarcoglycan). During assembly, beta-sarcoglycan tightly associates with delta-sarcoglycan to form a functional core that then recruits gamma- and alpha-sarcoglycan to form the sarcoglycan complex...
January 1, 2016: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/26702081/mending-a-broken-heart-the-role-of-sarcospan-in-duchenne-muscular-dystrophy-associated-cardiomyopathy
#12
EDITORIAL
Richard S Vander Heide
No abstract text is available yet for this article.
December 2015: Journal of the American Heart Association
https://www.readbyqxmd.com/read/26702077/sarcospan-regulates-cardiac-isoproterenol-response-and-prevents-duchenne-muscular-dystrophy-associated-cardiomyopathy
#13
Michelle S Parvatiyar, Jamie L Marshall, Reginald T Nguyen, Maria C Jordan, Vanitra A Richardson, Kenneth P Roos, Rachelle H Crosbie-Watson
BACKGROUND: Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular dystrophy skeletal muscle degeneration by activating compensatory pathways that regulate muscle cell adhesion (laminin-binding) to the extracellular matrix. Conversely, loss of SSPN destabilized skeletal muscle adhesion, hampered muscle regeneration, and reduced force properties...
December 23, 2015: Journal of the American Heart Association
https://www.readbyqxmd.com/read/25698924/the-sarcoglycan-complex-is-expressed-in-the-cerebrovascular-system-and-is-specifically-regulated-by-astroglial-cx30-channels
#14
Anne-Cécile Boulay, Bruno Saubaméa, Salvatore Cisternino, Virginie Mignon, Aurélien Mazeraud, Laurent Jourdren, Corinne Blugeon, Martine Cohen-Salmon
Astrocytes, the most prominent glial cell type in the brain, send specialized processes called endfeet, around blood vessels and express a large molecular repertoire regulating the cerebrovascular system physiology. One of the most striking properties of astrocyte endfeet is their enrichment in gap junction proteins Connexin 43 and 30 (Cx43 and Cx30) allowing in particular for direct intercellular trafficking of ions and small signaling molecules through perivascular astroglial networks. In this study, we addressed the specific role of Cx30 at the gliovascular interface...
2015: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/25504048/sarcospan-integration-into-laminin-binding-adhesion-complexes-that-ameliorate-muscular-dystrophy-requires-utrophin-and-%C3%AE-7-integrin
#15
Jamie L Marshall, Jennifer Oh, Eric Chou, Joy A Lee, Johan Holmberg, Dean J Burkin, Rachelle H Crosbie-Watson
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene that result in loss of the dystrophin-glycoprotein complex, a laminin receptor that connects the myofiber to its surrounding extracellular matrix. Utrophin, a dystrophin ortholog that is normally localized to the neuromuscular junction, is naturally upregulated in DMD muscle, which partially compensates for the loss of dystrophin. Transgenic overexpression of utrophin causes broad sarcolemma localization of utrophin, restoration of laminin binding and amelioration of disease in the mdx mouse model of DMD...
April 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/24060563/description-of-a-utrophin-associated-protein-complex-in-lipid-raft-domains-of-human-artery-smooth-muscle-cells
#16
Carlos Palma-Flores, Israel Ramírez-Sánchez, Haydeé Rosas-Vargas, Patricia Canto, Ramón Mauricio Coral-Vázquez
The dystrophin-associated protein complex (DAPC) is a multimeric complex that links the extracellular matrix to the actin cytoskeleton, and in some cases dystrophin can be substituted by its autosomal homologue utrophin to form the utrophin-associated protein complex (UAPC). Both complexes maintain the stability of plasma membrane during contraction process and play an important role in transmembrane signaling. Mutations in members of the DAPC are associated with muscular dystrophy and dilated cardiomyopathy...
March 2014: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/24021238/dystrophin-complex-functions-as-a-scaffold-for-signalling-proteins
#17
REVIEW
Bruno Constantin
Dystrophin is a 427kDa sub-membrane cytoskeletal protein, associated with the inner surface membrane and incorporated in a large macromolecular complex of proteins, the dystrophin-associated protein complex (DAPC). In addition to dystrophin the DAPC is composed of dystroglycans, sarcoglycans, sarcospan, dystrobrevins and syntrophin. This complex is thought to play a structural role in ensuring membrane stability and force transduction during muscle contraction. The multiple binding sites and domains present in the DAPC confer the scaffold of various signalling and channel proteins, which may implicate the DAPC in regulation of signalling processes...
February 2014: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/23601082/the-potential-of-sarcospan-in-adhesion-complex-replacement-therapeutics-for-the-treatment-of-muscular-dystrophy
#18
REVIEW
Jamie L Marshall, Yukwah Kwok, Brian J McMorran, Linda G Baum, Rachelle H Crosbie-Watson
Three adhesion complexes span the sarcolemma and facilitate critical connections between the extracellular matrix and the actin cytoskeleton: the dystrophin- and utrophin-glycoprotein complexes and α7β1 integrin. Loss of individual protein components results in a loss of the entire protein complex and muscular dystrophy. Muscular dystrophy is a progressive, lethal wasting disease characterized by repetitive cycles of myofiber degeneration and regeneration. Protein-replacement therapy offers a promising approach for the treatment of muscular dystrophy...
September 2013: FEBS Journal
https://www.readbyqxmd.com/read/23282144/sarcospan-a-small-protein-with-large-potential-for-duchenne-muscular-dystrophy
#19
Jamie L Marshall, Rachelle H Crosbie-Watson
Purification of the proteins associated with dystrophin, the gene product responsible for Duchenne muscular dystrophy, led to the discovery of the dystrophin-glycoprotein complex. Sarcospan, a 25-kDa transmembrane protein, was the last component to be identified and its function in skeletal muscle has been elusive. This review will focus on progress over the last decade revealing that sarcospan is an important regulator of muscle cell adhesion, strength, and regeneration. Investigations using several transgenic mouse models demonstrate that overexpression of sarcospan in the mouse model for Duchenne muscular dystrophy ameliorates pathology and restores muscle cell binding to laminin...
2013: Skeletal Muscle
https://www.readbyqxmd.com/read/22810924/preventing-phosphorylation-of-dystroglycan-ameliorates-the-dystrophic-phenotype-in-mdx-mouse
#20
Gaynor Miller, Chris J Moore, Rebecca Terry, Tracy La Riviere, Andrew Mitchell, Robert Piggott, T Neil Dear, Dominic J Wells, Steve J Winder
Loss of dystrophin protein due to mutations in the DMD gene causes Duchenne muscular dystrophy. Dystrophin loss also leads to the loss of the dystrophin glycoprotein complex (DGC) from the sarcolemma which contributes to the dystrophic phenotype. Tyrosine phosphorylation of dystroglycan has been identified as a possible signal to promote the proteasomal degradation of the DGC. In order to test the role of tyrosine phosphorylation of dystroglycan in the aetiology of DMD, we generated a knock-in mouse with a phenylalanine substitution at a key tyrosine phosphorylation site in dystroglycan, Y890...
October 15, 2012: Human Molecular Genetics
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