Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies.
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[1] E. Mercuri,et al. Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues , 2017, Nucleic acid therapeutics.
[2] K. Bushby,et al. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period , 2017, Neuromuscular Disorders.
[3] Daniele Merico,et al. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism , 2017, Nature Medicine.
[4] Shuo Lin,et al. Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice , 2017, Science Translational Medicine.
[5] M. Girgenrath,et al. Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy , 2017, Journal of neuromuscular diseases.
[6] M. Rüegg,et al. Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype , 2017, The Journal of clinical investigation.
[7] J. Rousseau,et al. Increased Expression of Laminin Subunit Alpha 1 Chain by dCas9-VP160 , 2016, Molecular therapy. Nucleic acids.
[8] R. Fässler,et al. Integrin-mediated mechanotransduction , 2016, The Journal of cell biology.
[9] M. Girgenrath,et al. IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy. , 2016, Human molecular genetics.
[10] Liping Yu,et al. Structural basis of laminin binding to the LARGE glycans on dystroglycan , 2016, Nature chemical biology.
[11] M. Durbeej,et al. Bortezomib Does Not Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy , 2016, PloS one.
[12] L. Tintignac,et al. Mechanisms Regulating Neuromuscular Junction Development and Function and Causes of Muscle Wasting. , 2015, Physiological reviews.
[13] Xiwei Shan,et al. The Extracellular Matrix Protein Laminin α2 Regulates the Maturation and Function of the Blood–Brain Barrier , 2014, The Journal of Neuroscience.
[14] R. Kiessling,et al. Laminins 411 and 421 differentially promote tumor cell migration via α6β1 integrin and MCAM (CD146). , 2014, Matrix biology : journal of the International Society for Matrix Biology.
[15] F. Muntoni,et al. Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy , 2014, Neuromuscular Disorders.
[16] M. Patarroyo,et al. Monoclonal antibodies to human laminin α4 chain globular domain inhibit tumor cell adhesion and migration on laminins 411 and 421, and binding of α6β1 integrin and MCAM to α4-laminins. , 2014, Matrix biology : journal of the International Society for Matrix Biology.
[17] J. Holmberg,et al. Bortezomib partially improves laminin α2 chain-deficient muscular dystrophy. , 2014, The American journal of pathology.
[18] J. Ervasti,et al. Microtubule binding distinguishes dystrophin from utrophin , 2014, Proceedings of the National Academy of Sciences.
[19] S. Strickland,et al. Astrocytic laminin regulates pericyte differentiation and maintains blood brain barrier integrity , 2014, Nature Communications.
[20] G. Gao,et al. The potential of adeno-associated viral vectors for gene delivery to muscle tissue , 2014, Expert opinion on drug delivery.
[21] Ching H. Wang,et al. Diagnostic approach to the congenital muscular dystrophies , 2014, Neuromuscular Disorders.
[22] A. Nakamura,et al. Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice , 2013, Human molecular genetics.
[23] K. Uaesoontrachoon,et al. Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular Dystrophy , 2013, PloS one.
[24] J. Mendell,et al. Gene therapy for muscular dystrophy: Lessons learned and path forward , 2012, Neuroscience Letters.
[25] Shuo Lin,et al. Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-α2-deficient congenital muscular dystrophy (MDC1A) , 2012, Skeletal Muscle.
[26] E. Hohenester,et al. Crystal Structures of the Network-Forming Short-Arm Tips of the Laminin β1 and γ1 Chains , 2012, PloS one.
[27] Robert H. Brown,et al. Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer , 2012, PloS one.
[28] S. Aga-Mizrachi,et al. Losartan, a therapeutic candidate in congenital muscular dystrophy: Studies in the dy2J/dy2J Mouse , 2012, Annals of neurology.
[29] R. Wuebbles,et al. Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. , 2012, The American journal of pathology.
[30] Liping Yu,et al. Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE , 2012, Science.
[31] S. Tapscott,et al. Immunity and AAV-Mediated Gene Therapy for Muscular Dystrophies in Large Animal Models and Human Trials , 2011, Front. Microbio..
[32] Shuo Lin,et al. Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice , 2011, EMBO molecular medicine.
[33] M. Durbeej,et al. Transgenic expression of Laminin α1 chain does not prevent muscle disease in the mdx mouse model for Duchenne muscular dystrophy. , 2011, The American journal of pathology.
[34] E. Hohenester,et al. Determinants of Laminin Polymerisation Revealed by the Crystal Structure of the Alpha5 Chain Amino-Terminal Region , 2011 .
[35] E. Hohenester,et al. Determinants of laminin polymerization revealed by the structure of the α5 chain amino-terminal region , 2011, EMBO reports.
[36] P. Yurchenco. Basement membranes: cell scaffoldings and signaling platforms. , 2011, Cold Spring Harbor perspectives in biology.
[37] M. Steinmetz,et al. Laminin chain assembly is regulated by specific coiled-coil interactions , 2010, Journal of structural biology.
[38] P. Barzaghi,et al. Omigapil Ameliorates the Pathology of Muscle Dystrophy Caused by Laminin-α2 Deficiency , 2009, Journal of Pharmacology and Experimental Therapeutics.
[39] K. Campbell,et al. Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan , 2009, Proceedings of the National Academy of Sciences.
[40] D. Burkin,et al. Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy , 2009, Proceedings of the National Academy of Sciences.
[41] P. Yurchenco,et al. Developmental and pathogenic mechanisms of basement membrane assembly. , 2009, Current pharmaceutical design.
[42] P. Yurchenco,et al. Scaffold-forming and Adhesive Contributions of Synthetic Laminin-binding Proteins to Basement Membrane Assembly* , 2009, Journal of Biological Chemistry.
[43] M. Girgenrath,et al. Pathology is alleviated by doxycycline in a laminin‐α2–null model of congenital muscular dystrophy , 2008, Annals of neurology.
[44] R. Burgess,et al. A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination , 2008, Journal of Cell Science.
[45] P. Yurchenco,et al. Role of Laminin Terminal Globular Domains in Basement Membrane Assembly* , 2007, Journal of Biological Chemistry.
[46] A. Alkan,et al. Merosin-Negative Congenital Muscular Dystrophy: Diffusion-Weighted Imaging Findings of Brain , 2007, Journal of child neurology.
[47] Silke Berger,et al. The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin α2-deficient congenital muscular dystrophy , 2007, Proceedings of the National Academy of Sciences.
[48] K. Sekiguchi,et al. The Requirement of the Glutamic Acid Residue at the Third Position from the Carboxyl Termini of the Laminin γ Chains in Integrin Binding by Laminins* , 2007, Journal of Biological Chemistry.
[49] P. Barzaghi,et al. Linker molecules between laminins and dystroglycan ameliorate laminin-α2–deficient muscular dystrophy at all disease stages , 2007, The Journal of cell biology.
[50] K. Davies,et al. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with β-dystroglycan , 2007, The Journal of cell biology.
[51] Jia-Yi Li,et al. Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy. , 2006, Human molecular genetics.
[52] K. Sekiguchi,et al. Ligand-binding specificities of laminin-binding integrins: A comprehensive survey of laminin–integrin interactions using recombinant α3β1, α6β1, α7β1 and α6β4 integrins , 2006 .
[53] Simon C Watkins,et al. Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[54] J. Sanes,et al. A simplified laminin nomenclature. , 2005, Matrix biology : journal of the International Society for Matrix Biology.
[55] P. Barzaghi,et al. Overexpression of mini‐agrin in skeletal muscle increases muscle integrity and regenerative capacity in laminin‐α2‐deficient mice , 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[56] P. Yurchenco,et al. Laminin–sulfatide binding initiates basement membrane assembly and enables receptor signaling in Schwann cells and fibroblasts , 2005, The Journal of cell biology.
[57] Susan C. Brown,et al. Congenital muscular dystrophy: molecular and cellular aspects , 2005, Cellular and Molecular Life Sciences CMLS.
[58] L. Sherman,et al. Coordinate control of axon defasciculation and myelination by laminin-2 and -8 , 2005, The Journal of cell biology.
[59] S. Takeda,et al. Laminin α1 chain reduces muscular dystrophy in laminin α2 chain deficient mice , 2004 .
[60] K. Campbell,et al. Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan , 2004, Cell.
[61] P. Barzaghi,et al. Expression of mouse agrin in normal, denervated and dystrophic muscle , 2003, Neuromuscular Disorders.
[62] J. Talts,et al. Beta1 integrin and alpha-dystroglycan binding sites are localized to different laminin-G-domain-like (LG) modules within the laminin alpha5 chain G domain. , 2003, The Biochemical journal.
[63] E. Engvall,et al. Laminin α2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice , 2003, Neuromuscular Disorders.
[64] A. Connolly,et al. High dose weekly oral prednisone improves strength in boys with Duchenne muscular dystrophy , 2002, Neuromuscular Disorders.
[65] R. Fässler,et al. Matrix assembly, regulation, and survival functions of laminin and its receptors in embryonic stem cell differentiation , 2002, The Journal of cell biology.
[66] A. Pestronk,et al. Complement 3 deficiency and oral prednisolone improve strength and prolong survival of laminin α2-deficient mice , 2002, Journal of Neuroimmunology.
[67] R. Timpl,et al. Complete sequence, recombinant analysis and binding to laminins and sulphated ligands of the N-terminal domains of laminin α3B and α5 chains , 2002 .
[68] E. Engvall,et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy , 2001, Nature.
[69] E. Engvall,et al. Laminin α2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats , 2001, Journal of the Neurological Sciences.
[70] E. Engvall,et al. Muscular dystrophy in female dogs. , 2001, Journal of veterinary internal medicine.
[71] R. Timpl,et al. Structural and Functional Analysis of the Recombinant G Domain of the Laminin α4 Chain and Its Proteolytic Processing in Tissues* , 2000, The Journal of Biological Chemistry.
[72] P. Yurchenco,et al. Form and function: The laminin family of heterotrimers , 2000, Developmental dynamics : an official publication of the American Association of Anatomists.
[73] E. Engvall,et al. Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. , 1999, Laboratory investigation; a journal of technical methods and pathology.
[74] P. Yurchenco,et al. The laminin α2 expressed by dystrophic dy2J mice is defective in its ability to form polymers , 1999, Current Biology.
[75] R. Timpl,et al. The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin. , 1999, Molecular cell.
[76] J. Sanes,et al. Distribution of ten laminin chains in dystrophic and regenerating muscles , 1999, Neuromuscular Disorders.
[77] I. Shih. The role of CD146 (Mel‐CAM) in biology and pathology , 1999, The Journal of pathology.
[78] R. Timpl,et al. Binding of the G domains of laminin α1 and α2 chains and perlecan to heparin, sulfatides, α‐dystroglycan and several extracellular matrix proteins , 1999 .
[79] E. Hoffman,et al. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. , 1999, AJNR. American journal of neuroradiology.
[80] M. Grounds,et al. Expression of Laminin α1, α2, α4, and α5 Chains, Fibronectin, and Tenascin-C in Skeletal Muscle of Dystrophic 129ReJdy/dyMice , 1999 .
[81] M. Paulsson,et al. The Targeted Deletion of the LAMC1 Gene , 1998, Annals of the New York Academy of Sciences.
[82] E. Engvall,et al. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. , 1998, The Journal of clinical investigation.
[83] E. Engvall,et al. Disruption of thelama2Gene in Embryonic Stem Cells: Laminin α2 Is Necessary for Sustenance of Mature Muscle Cells , 1998 .
[84] R. Kammerer,et al. Electron microscopic structure of agrin and mapping of its binding site in laminin‐1 , 1998, The EMBO journal.
[85] M. Ruegg,et al. Agrin Is a High-affinity Binding Protein of Dystroglycan in Non-muscle Tissue* , 1998, The Journal of Biological Chemistry.
[86] J. Sanes,et al. Distribution and Function of Laminins in the Neuromuscular System of Developing, Adult, and Mutant Mice , 1997, The Journal of cell biology.
[87] R. Burgeson,et al. Self-assembly of Laminin Isoforms* , 1997, The Journal of Biological Chemistry.
[88] P. Yurchenco,et al. Localization of heparin binding activity in recombinant laminin G domain. , 1997, European journal of biochemistry.
[89] I. Nonaka,et al. Laminin α2 chain‐null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)‐deficient congenital muscular dystrophy , 1997 .
[90] M. Ruegg,et al. Agrin Binds to the Nerve–Muscle Basal Lamina via Laminin , 1997, The Journal of cell biology.
[91] K. Campbell,et al. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. , 1997, Human molecular genetics.
[92] F. Muntoni,et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency , 1997, Neuromuscular Disorders.
[93] E. Mercuri,et al. Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy , 1996, Neuromuscular Disorders.
[94] R. Huber,et al. Site‐directed mutagenesis and structural interpretation of the nidogen binding site of the laminin gamma1 chain. , 1996, The EMBO journal.
[95] M. Ruegg,et al. Dystroglycan Is a Dual Receptor for Agrin and Laminin-2 in Schwann Cell Membrane* , 1996, The Journal of Biological Chemistry.
[96] M. Ruegg,et al. Alternative Splicing of Agrin Alters Its Binding to Heparin, Dystroglycan, and the Putative Agrin Receptor , 1996, Neuron.
[97] K. Campbell,et al. Merosin‐negative congenital muscular dystrophy associated with extensive brain abnormalities , 1995, Neurology.
[98] F. Muntoni,et al. Demyelinating Peripheral Neuropathy in Merosin-Deficient Congenital Muscular Dystrophy , 1995, Journal of child neurology.
[99] A. Utani,et al. Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice. , 1995, Human molecular genetics.
[100] E. Engvall,et al. Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene , 1994, Nature Genetics.
[101] E. Engvall,et al. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[102] K. Campbell,et al. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. , 1994, The Journal of biological chemistry.
[103] P. Yurchenco,et al. Self-assembly and calcium-binding sites in laminin. A three-arm interaction model. , 1993, The Journal of biological chemistry.
[104] P. Yurchenco,et al. Laminin forms an independent network in basement membranes [published erratum appears in J Cell Biol 1992 Jun;118(2):493] , 1992, The Journal of cell biology.
[105] H. Wiedemann,et al. Recombinant nidogen consists of three globular domains and mediates binding of laminin to collagen type IV. , 1991, The EMBO journal.
[106] E. Tsilibary,et al. Laminin polymerization in vitro. Evidence for a two-step assembly with domain specificity. , 1985, The Journal of biological chemistry.
[107] J. Southard,et al. Muscular dystrophy in the mouse caused by an allele at the dy-locus. , 1970, Life sciences.
[108] W. Silvers,et al. New Genetically Homogeneous Background for Dystrophic Mice and Their Normal Counterparts , 1962, Science.
[109] E. Russell,et al. Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE. , 1955, Proceedings of the National Academy of Sciences of the United States of America.
[110] J. Uitto,et al. Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa. , 2017, Matrix biology : journal of the International Society for Matrix Biology.
[111] H. Nishimune,et al. The role of laminins in the organization and function of neuromuscular junctions. , 2017, Matrix biology : journal of the International Society for Matrix Biology.
[112] A. Pozzi,et al. The nature and biology of basement membranes. , 2017, Matrix biology : journal of the International Society for Matrix Biology.
[113] James M. Allen,et al. Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.
[114] R. Timpl,et al. Complete sequence, recombinant analysis and binding to laminins and sulphated ligands of the N-terminal domains of laminin alpha3B and alpha5 chains. , 2002, The Biochemical journal.