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  • Mutations
  • Most LAMA2 gene mutations that cause early-onset LAMA2 -related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. (nih.gov)
  • Mutations that cause late-onset LAMA2 -related muscular dystrophy usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. (nih.gov)
  • P388D1 transfectants which expressed these serine mutations adhered to laminin in response to PMA to the same extent as cells transfected with wild-type alpha 6A cDNA. (rupress.org)
  • However, our data indicate that typically the most severe mutations diminish mRNA stability, and serve as functional null alleles that block chain assembly by resulting in either a deficiency (in the nonlethal mitis variety) or a complete absence (in lethal Herlitz-JEB) of one of the chains needed for laminin-5 heterotrimer assembly. (rupress.org)
  • heterotrimer
  • In all six JEB patients, the laminin-5 assembly intermediates we observed were as predicted by our previous work indicating that the α3β3γ2 heterotrimer assembles intracellularly via a β3γ2 heterodimer intermediate. (rupress.org)
  • major noncollagenous
  • Laminins [( PUBMED:2404817 )] are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation. (embl.de)
  • epidermolysis
  • Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. (rupress.org)
  • regulate
  • There, the laminins help regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). (nih.gov)
  • basement
  • Basement membrane assembly is a cooperative process in which laminins polymerise through their N-terminal domain (LN or domain VI) and anchor to the cell surface through their G domains. (embl.de)
  • Regulation
  • The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. (wikipedia.org)
  • receptors
  • This leads to cell signalling through integrins and dystroglycan (and possibly other receptors) recruited to the adherent laminin. (embl.de)
  • The laminins can self-assemble, bind to other matrix macromolecules, and have unique and shared cell interactions mediated by integrins, dystroglycan, and other receptors. (embl.de)
  • muscular
  • 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. (nih.gov)
  • structural
  • The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. (nih.gov)