Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene. (wikipedia.org)
Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2 -related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. (medlineplus.gov)
Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2 -related muscular dystrophy. (medlineplus.gov)
MDC1A is caused by a defect in the LAMA2 gene which is responsible for the production of laminin a2 protein (previously called merosin). (ricoverhoeven.com)
From the 17th to 19th March 2023, ten students from the Honors Programme in Maastricht University organized and attended a conference in Barcelona, focusing on Laminin Alpha-2-Congenital Muscular Dystrophy (LAMA2-CMD), also known as Merosin-Deficient Congenital Dystrophy Type 1A (MDC1A). (maastrichtuniversity.nl)
Congenital muscular dystrophy (CMD) with merosin deficiency (MDC1A) is an autosomal recessive disorder due to mutations in the laminin alpha-2 gene (LAMA2). (fsrmm.ch)
Die Muskeldystrophie mit Merosinmangel ist eine autosomal-rezessive Erkrankung aufgrund von Veränderungen im Laminin alpha2-Gen (LAMA2), eine der häufigsten kongenitalen Muskeldystrophien, wobei die Angaben über die Häufigkeit in der Literatur variieren. (fsrmm.ch)
MDC1A1
In a study of 116 patients in the United Kingdom, the most common congenital muscular dystrophies were collagen VI-related disorders (19%), with α-dystroglycanopathy congenital muscular dystrophy (12%) and merosin-deficient congenital muscular dystrophy (MDC1A) (10%) being next in frequency. (medscape.com)
Subunit2
This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. (medlineplus.gov)
Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. (medlineplus.gov)
Congenital1
Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. (wikipedia.org)
Alpha21
A CMD Subtype that results from gene defects in the laminin-alpha2 gene affecting the production of merosin protein in the muscle cell. (cmdir.org)
Chain9
This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). (wikipedia.org)
alpha 3B chain of laminin-5 [Homo sap. (nig.ac.jp)
In PC12 cells, we recently showed that the engagement of integrin a3b1 to a binding sequence within the human laminin a2 chain was sufficient to recruit PKCa and PKCd to the integrin receptor [6]. (mirnamimic.com)
Mutations1
CMD is caused by genetic mutations that affect proteins necessary for the proper structure and function of muscles and sometimes for the eyes and/or brain. (mdaquest.org)
Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). (medlineplus.gov)
The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers. (medlineplus.gov)
Laminins plays a major role in binding itself and other proteins together not only in the extracellular matrix but also to the muscle cell membrane. (cmdir.org)
Among the extracellular matrix compounds used in this study, two (collagen I and fibronectin) allowed only a weak attachment of cortical neurons to the substratum, while the others (collagen IV, laminin, and basal lamina from Engelbreth-Holm-Swarm sarcoma) allowed both firm attachment and moderate to extensive neurite outgrowth from neuronal cell bodies. (curehunter.com)
Dystrophin associates with a number of proteins to form a large oligomeric complex named the dystrophin-glycoprotein complex (DGC), which bridges across the sarcolemma and connects the extracellular matrix and the actin cytoskeleton (Allamand and Campbell, (2000) Human Molecular Genetics 9:2459-2467). (justia.com)
Deficiency1
Some patients however show a milder and more variable course of the disease with later onset, which often correlates with partial Merosin-deficiency in muscle biopsy immunohistochemistry staining. (fsrmm.ch)
Collagen1
BMs are specialized structures that underlie epithelia and surround organs and mainly comprise collagen IV, laminins, and heparan sulfate proteoglycans (HSPG). (nature.com)
Gene2
Two transcript variants encoding different proteins have been found for this gene. (wikipedia.org)
Whereas α2 laminins promoted islet cell clustering, they did not affect gene expression. (nature.com)
Laminins [ ( PUBMED:2404817 ) ] are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation. (embl.de)
Laminin proteins are made of three different subunits called alpha, beta, and gamma. (medlineplus.gov)
Tumor3
Evidence suggests that the protein plays a role in tumor invasion. (bvsalud.org)
PHD2 is certainly the major prolyl hydroxylase that adjusts HIF-1 proteins balance in nonhypoxic cells, whereas knockdown of PHD1 or PHD3 will not really affect HIF-1 proteins amounts in many tumor cell lines (Berra range 350C1700 at a quality of 30,000. (forgetmenotinitiative.org)
Synthetic peptides or recombinant fragments containing bio- logically active motifs have been shown to partially mimic the effects of native laminin in various cellular functions, such as cell adhesion, spreading, migration, neurite outgrowth, and tumor metastasis [6-10], suggesting that laminin-derived-short peptide- modified biomaterials may have therapeutic potential in tissue regeneration applications. (mirnamimic.com)
Receptors1
Biological activities of laminin are mediated through binding to a subset of integrin family of cell adhesion receptors, a3b1, a6b1, a6b4, and a7b1 [2]. (mirnamimic.com)
Membrane proteins1
Nuclear lamins interact with inner nuclear membrane proteins to form the nuclear lamina on the interior of the nuclear envelope. (cmdir.org)
Recombinant1
WT or mutant GST-actin blend proteins was incubated at 30C for 30 minutes with or without recombinant PHD3 proteins supplemented with 50 millimeter Tris/HCl (pH 8.0), 100 millimeter NaCl, 100 M DTT, 100 M FeSO4, 5 millimeter ascorbate, and 1 millimeter -ketoglutarate. (forgetmenotinitiative.org)
Skeletal1
Laminin 2 and laminin 4 play a particularly important role in the skeletal muscles. (medlineplus.gov)
Epitope1
After three flushes, the destined protein had been fractionated by SDSCPAGE and examined by immunoblot assays using antibodies against the pursuing protein or epitope BLZ945 label: PHD2, PHD3, -actin, PKM2 (Novus Biologicals), Sixth is v5 (Invitrogen, Carlsbad, California), or Banner (Sigma-Aldrich). (forgetmenotinitiative.org)
In contrast, culturing on Laminin-421 induced the expression of β-cell genes, including Ins1 , MafA , and Glut2 , and significantly improved glucose-stimulated insulin secretion. (nature.com)
Chains1
Compared to ECs, pancreatic pericytes produce significantly higher levels of α2 and α4 laminin chains, which constitute the peri-islet and vascular BM. (nature.com)
Structural2
Using a series of fusion proteins corresponding to the different structural domains of TSP, binding of [125I]DCN to TSP was found to be dependent of the N-terminal domain and, to a lesser extent, of the type 1 repeats and the C-terminal domain of TSP. (embl.de)
Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. (cmdir.org)
Human2
The conserved patterns correspond mainly to hydrophobic core residues located in central beta strands of the known three-dimensional structures of two pentraxins, the human C-reactive protein and the serum amyloid P-component. (embl.de)
In experiments probing for a role of PKCa in human laminin-2-integrin-mediated cell adhesion and spreading of PC12 cells, we observed unexpected enhancements of adhesion, spreading and stress fiber formation to 1 mM Go¨6976 with concomitant increase in membrane translocation of PKCd and autophosphorylation of focal adhesion kinase (FAK). (mirnamimic.com)
Antibody3
imgenex, 770 antibody to dnmt3b ( clone 52a1018 1:200 ) 771 bcl 6 anti body conc 772 cdk 4 anti body conc 773 gata2 antibody conc 774 mdm2 antibody conc 775 pck1 conc 776 sf 1 conc 777 bob 1 conc 778 pit 1 conc 779 antigap43 antibody 780 anti eber associated protein antibody, polyclonal 781 brilliant cresyl blue 782 phospho. (tendersindelhi.com)
protein 795 anti cd 163 796 anti gap43 antibody 797 anti lin28 antibody ( preferably thermoscientific ) 798 xl iso ( 17q ) 799 brilliant cresyl blue 800 fecal occult blood test ( fobt ) , kit 801 phospho. (tendersindelhi.com)
Co-IP assays Cells had been lysed in altered radioimmunoprecipitation assay stream, and WCLs had been incubated over night with anti-FLAG (Sigma-Aldrich, St. Louis, MO), anti-PHD2 (Novus Biologicals, Littleton, Company), anti-PHD3 (Novus Biologicals), or anti-hydroxyproline (Abcam) antibody in the existence of proteins ACagarose beans (Novus Biologicals). (forgetmenotinitiative.org)
Copies1
The laminin globular (G) domain can be found in one to several copies in various laminin family members, including a large number of extracellular proteins. (embl.de)
Stability1
Laminins help to maintain muscle fiber stability. (cmdir.org)
Found1
We further found that the pericytic laminin isoforms differentially regulate mouse β-cells. (nature.com)
MUTANT1
In vitro prolyl hydroxylation assays WT or mutant GSTC-actin and GST-PHD3 blend protein had been indicated in BL21-Platinum (Para3) and filtered by joining to glutathione-Sepharose beans Rabbit polyclonal to IPMK (GE Health care). (forgetmenotinitiative.org)
Type1
It is known as a 'LE' or 'laminin-type EGF-like' domain. (embl.de)
Domains3
There are 10670 TSPN domains in 10645 proteins in SMART's nrdb database. (embl.de)
Merging extracellular domains: fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins. (embl.de)
There are 106401 EGF_Lam domains in 19990 proteins in SMART's nrdb database. (embl.de)
Cell3
Laminin G-containing proteins appear to have a wide variety of roles in cell adhesion, signalling, migration, assembly and differentiation. (embl.de)
Go¨6976 also induced laminin-dependent cell adhesion in NIH/3T3 and CV-1 fibroblasts, suggesting of a mechanism that may be common to multiple cell-types. (mirnamimic.com)
A specific inhibitor of PKCd, rottlerin, completely abrogated Go¨6976-dependent increase in PC12 cell adhesion to laminin as well as the activation of small GTPases, Rac1 and Cdc42, that are downstream of PKCd in adhesion receptor signaling. (mirnamimic.com)
Complete1
The complete taxonomic breakdown of all proteins with TSPN domain is also avaliable . (embl.de)