Affinage

LAMA2

Laminin subunit alpha-2 · UniProt P24043

Length
3122 aa
Mass
343.9 kDa
Annotated
2026-06-10
100 papers in source corpus 21 papers cited in narrative 21 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

LAMA2 encodes the laminin α2 chain, a basement membrane glycoprotein essential for the structural integrity of muscle and peripheral nerve, whose loss causes merosin-deficient congenital muscular dystrophy (MDC1A) (PMID:7550355). Laminin α2 confers two non-redundant biochemical properties on the basement membrane: self-polymerization, mediated by a universally conserved CxxC motif in its N-terminal LN domain, and high-affinity linkage to the cell surface via α-dystroglycan (PMID:18430779, PMID:28659438). Disruption of either property—by null mutation, domain VI deletion, or point mutation of the LN CxxC motif—destabilizes the basement membrane and produces both progressive myodegeneration and peripheral amyelination (PMID:7874173, PMID:9326364, PMID:18430779). The requirement is specifically for the maintenance and survival of mature, contracting myofibers and for muscle regeneration rather than for initial myogenic differentiation, with laminin α2 loss triggering apoptotic death of degenerating and immature muscle cells (PMID:9326364, PMID:9633519, PMID:10616210). The mechanistic basis of disease has been validated by reconstitution: the compensatory laminin-α4 fails to polymerize or bind α-dystroglycan, and supplying these two activities in trans with engineered linker proteins (αLNNd for polymerization and mini-agrin for α-dystroglycan binding) restores basement membrane stability, muscle force, and lifespan, with extra-muscular linker expression required to correct the Schwann cell–axon myelination defect (PMID:28659438, PMID:36878377, PMID:37038437). Beyond muscle and nerve, laminin α2 is produced by mural cells and leptomeningeal/vascular fibroblasts under Wnt/β-catenin control and contributes to neurovascular and gliovascular basal lamina assembly (PMID:36098369, PMID:40960171). LAMA2 also signals to cells as a matrix ligand through integrin- and hedgehog-dependent pathways governing stem/progenitor fate (PMID:32213190, PMID:36334352), and is co-opted as a T-cell coreceptor for staphylococcal superantigens through its G4 domain (PMID:29335257).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1994 High

    Establishing that a laminin α2 defect underlies muscular dystrophy required first finding a causal mutation; the dy2J mouse provided the first molecular lesion linking aberrant splicing and a domain VI truncation to muscle instability.

    Evidence Splice-site mutation identification and mRNA characterization in the dy2J murine dystrophy model

    PMID:7874173

    Open questions at the time
    • Did not establish the human disease association
    • Did not define which biochemical property of domain VI is lost
  2. 1995 High

    It was unknown which gene caused merosin-deficient congenital muscular dystrophy; identifying loss-of-function LAMA2 mutations in affected families established direct genetic causation of MDC1A.

    Evidence Homozygosity mapping, linkage, and splice-site/nonsense mutation identification in CMD families

    PMID:7550355

    Open questions at the time
    • Did not resolve the molecular mechanism by which loss destabilizes the basement membrane
    • Genotype–phenotype relationships not defined
  3. 1996 Medium

    Defining the LAMA2 gene architecture provided the framework for interpreting splicing mutations and the basis for evolutionary divergence comparisons.

    Evidence Complete genomic sequencing and exon-intron mapping with comparative genomics against Drosophila LAMA

    PMID:8910357

    Open questions at the time
    • Structural data alone do not address protein function
    • Regulatory elements controlling expression not mapped
  4. 1998 High

    Whether laminin α2 was needed for muscle formation or muscle maintenance was unresolved; ES-cell disruption showed normal differentiation but collapse of myotubes at the onset of contraction, pinpointing a maintenance/survival role.

    Evidence ES cell gene disruption and in vitro differentiation with myotube stability assays; null knockout with TUNEL and DNA laddering in mice

    PMID:9326364 PMID:9633519

    Open questions at the time
    • Molecular survival signal deprived from myofibers not identified
    • Did not address peripheral nerve requirement
  5. 1999 High

    The role of laminin α2 in repair was unknown; reporter and rescue experiments showed Lama2 is activated during regeneration and that human LAMA2 transgene restores successful muscle repair.

    Evidence lacZ knock-in reporter (dyW) mouse, muscle injury/regeneration model, and human LAMA2 transgene rescue

    PMID:10616210

    Open questions at the time
    • Did not separate satellite-cell-intrinsic from matrix-dependent effects mechanistically
    • Signaling pathway sustaining regenerating fibers not defined
  6. 2008 High

    The specific structural element responsible for laminin α2 function was unclear; a CxxC point mutation in the LN domain causing both myodegeneration and amyelination established the polymerization motif as functionally essential in both tissues.

    Evidence Characterization of the nmf417 point-mutant allele with histological and ultrastructural analysis of muscle and nerve

    PMID:18430779

    Open questions at the time
    • Did not quantify the relative contributions of polymerization versus receptor binding
    • Mechanism of nerve amyelination not resolved
  7. 2017 High

    Why compensatory laminins fail to substitute for laminin α2 was unknown; reconstitution showed laminin-α4 neither polymerizes nor binds α-dystroglycan, and supplying both functions in trans rescues muscle, establishing the two activities as the core therapeutic targets.

    Evidence In vitro polymerization and cell-binding assays with recombinant proteins plus transgenic αLNNd and mini-agrin expression in LAMA2-MD mice; AAV mini-agrin delivery in dy/dy mice

    PMID:28659438 PMID:29766020

    Open questions at the time
    • Long-term durability and human translation not addressed
    • Relative weighting of polymerization vs receptor linkage for nerve not yet separated
  8. 2019 High

    A function for laminin α2 outside the basement membrane was unknown; it was identified as a direct G4-domain coreceptor for staphylococcal superantigens driving LCK-independent T-cell activation.

    Evidence Ligand-receptor capture, ELISA, pulldown and SPR binding assays, in vitro T-cell activation, and in vivo toxic shock model

    PMID:29335257

    Open questions at the time
    • Physiological (non-toxin) ligand of the G4 coreceptor activity not defined
    • Relationship to basement membrane function unclear
  9. 2022 Medium

    The transcriptional and cell-type control of LAMA2 in the brain vasculature was unknown; Wnt/β-catenin activation in mural cells was shown to drive Lama2 expression that promotes astrocyte endfoot maturation.

    Evidence RNA-seq of Apcdd1-/- retinas, in vitro Wnt/β-catenin activation in mural cells, and immunofluorescence; later scRNA-seq with a dyH knockout

    PMID:36098369 PMID:40960171

    Open questions at the time
    • Direct β-catenin binding to the Lama2 locus not demonstrated
    • Causal link between mural-cell Lama2 and barrier function not fully established
  10. 2023 High

    Whether the nerve pathology in LAMA2-MD is muscle-derived or nerve-intrinsic was unresolved; compartment-specific linker expression showed extra-muscular (nerve) laminin α2 function is required for Schwann cell–axon maintenance and myelination, while dual polymerization/receptor reconstitution improves survival and muscle through modified laminin-411.

    Evidence Ubiquitous vs muscle-specific transgenic and AAV linker expression in dy/dy and dy3K/dy3K mice with motor, histological, survival, and biochemical endpoints

    PMID:35639486 PMID:36878377 PMID:37038437

    Open questions at the time
    • Schwann-cell-intrinsic downstream signaling not defined
    • Full normalization not achieved by linker substitution
  11. 2023 Medium

    Roles for LAMA2 as a signaling ligand and regulated target in non-muscle progenitors were unknown; loss/gain-of-function studies linked LAMA2 to hedgehog-, integrin/AKT-, and PI3K-AKT-dependent control of MSC, pancreatic progenitor, neural stem cell, and tumor cell behavior, and identified upstream regulators Brn4 and Mex3a.

    Evidence siRNA/overexpression with hedgehog Western blots in hMSCs; ITGA7/AKT and scRNA-seq in pancreatic progenitors; RIP and PI3K-AKT readouts in lung adenocarcinoma; ChIP/luciferase in neural stem cells

    PMID:32213190 PMID:32792503 PMID:36334352 PMID:37091532

    Open questions at the time
    • These signaling roles rest on single-lab studies
    • Whether they reflect matrix-receptor versus intracellular mechanisms is not resolved
    • In vivo relevance to LAMA2-MD unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • The precise survival signal that contracting myofibers and Schwann cells derive from an intact laminin α2 basement membrane, and how it integrates with α-dystroglycan and integrin engagement, remains undefined.
  • Downstream pro-survival signaling pathway not mapped
  • Integration of polymerization vs receptor-binding signals not resolved
  • Human therapeutic translation of linker reconstitution not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098631 cell adhesion mediator activity 2 GO:0048018 receptor ligand activity 1
Localization
GO:0031012 extracellular matrix 4 GO:0005576 extracellular region 2
Pathway
R-HSA-1266738 Developmental Biology 2 R-HSA-1474244 Extracellular matrix organization 2 R-HSA-1643685 Disease 2
Partners
DAG1ITGA7
Complex memberships
laminin-211laminin-411

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 Splice site and nonsense mutations in LAMA2 cause absence of the laminin α2 chain (merosin), establishing LAMA2 as the gene responsible for merosin-deficient congenital muscular dystrophy (MDC1A) by direct mutation identification in affected families. Homozygosity mapping, linkage analysis, and direct mutation identification (splice site and nonsense mutations) in CMD families Nature genetics High 7550355
1994 A G-to-A mutation in a splice site of the Lama2 gene in dy2J mice causes abnormal splicing and expression of multiple mRNAs, one of which is translated into a laminin α2 polypeptide with a deletion in domain VI; this truncated protein lacks the functional properties needed for muscle stability. Mutation identification in the dy2J murine muscular dystrophy model; splice site analysis and mRNA characterization Nature genetics High 7874173
1997 Targeted disruption (knockout) of the Lama2 gene in mice produces severe muscular dystrophy with growth retardation and increased apoptotic cell death in degenerating muscles (TUNEL-positive nuclei and DNA laddering), demonstrating that laminin α2 is essential for muscle fiber survival postnatally. Gene targeting in mice (Lama2 null, dy3K/dy3K); light microscopy, TUNEL staining, DNA laddering FEBS letters High 9326364
1998 Homozygous disruption of the Lama2 gene in embryonic stem cells results in normal differentiation but unstable myotubes that detach, collapse, and degenerate at the onset of the contractile phenotype, indicating that laminin α2 is specifically required for the sustenance of mature, contracting muscle cells rather than for initial myogenic differentiation. ES cell gene disruption; in vitro differentiation assays; observation of myotube stability Experimental cell research High 9633519
1999 The Lama2 gene is strongly activated during muscle regeneration and is required for successful muscle repair; homozygous dyW mice lacking laminin α2 show abundant satellite cell activation but fail to complete regeneration due to excessive death of cells associated with immature myofibers, and expression of a human LAMA2 transgene rescues this defect. lacZ knock-in reporter mouse (dyW); beta-galactosidase activity assays; muscle injury/regeneration model; human LAMA2 transgene rescue Laboratory investigation High 10616210
1996 The human LAMA2 gene spans over 260,000 base pairs and contains 64 exons; two exons (43 and 52) are extremely small (6 and 12 bp). Comparison with the Drosophila LAMA gene revealed poor conservation of intron positions, indicating significant divergence in gene structure. Complete genomic sequencing and exon-intron border determination; comparative genomics with Drosophila LAMA The Journal of biological chemistry Medium 8910357
2008 A point mutation (Cys79Arg) in the LN domain of laminin α2 — at a universally conserved CxxC motif that mediates laminin-laminin polymerization — causes progressive myodegeneration and severe peripheral amyelination in mice (nmf417 allele), demonstrating that the LN domain CxxC motif is required for laminin α2 function in both nerve and muscle. Characterization of novel Lama2 allele (nmf417) in mice; point mutation identification; histological and ultrastructural analysis of muscle and peripheral nerve Journal of cell science High 18430779
2017 Laminin-α4, which compensatorily replaces laminin-α2 in LAMA2-MD, forms unstable basement membranes because it neither polymerizes nor binds efficiently to α-dystroglycan; engineered linker proteins αLNNd (enabling polymerization via the laminin N-terminal domain) and mini-agrin (enabling α-dystroglycan binding) together restore basement membrane stability, recover muscle force, and extend lifespan in mouse models of LAMA2-MD. In vitro polymerization and cell-binding assays with recombinant proteins; transgenic expression of linker proteins in LAMA2-MD mice; grip strength, body weight, survival, and histological endpoints Science translational medicine High 28659438
2019 LAMA2 (laminin α2 subunit) acts as a direct coreceptor for staphylococcal superantigens on T cells; binding between staphylococcal enterotoxin E and LAMA2 was confirmed by ELISA, pulldown, and surface plasmon resonance; through its G4 domain, LAMA2 mediates LCK-independent T cell activation via a calcium-sensing receptor-type GPCR–PLCβ pathway. LRC-TriCEPS ligand-receptor capture technology; ELISA, pulldown, surface plasmon resonance binding assays; in vitro T cell activation assays; in vivo toxic shock model Journal of immunology High 29335257
2017 AAV-delivered mini-agrin (a non-homologous functional substitute for laminin α2 containing binding sites for laminins and α-dystroglycan) ameliorates both skeletal muscle pathology and peripheral nerve pathology in dy/dy mice, demonstrating that restoring extracellular matrix linkage via α-dystroglycan is sufficient to partially correct both myodegeneration and peripheral amyelination in LAMA2-MD. AAV9-mini-agrin delivery in dy/dy mice; lifespan, grip strength, myelination by histology/EM, motor function, Schwann cell regeneration markers Molecular therapy. Methods & clinical development Medium 29766020
2019 Linker protein αLNNd (chimeric protein enabling α4-laminin polymerization) alone ameliorates the ambulatory (mild) form of LAMA2-MD, while AAV delivery of αLNNdΔG2' (a shortened linker expressed in muscle, nerve, and other tissues) restores both muscle histology and sciatic nerve myelination in dy2J/dy2J mice, demonstrating that the nerve pathology requires extra-muscular expression of the linker protein. AAV-mediated delivery of linker mini-genes; forelimb/hindlimb grip strength; sciatic nerve myelination by histology; muscle histopathology JCI insight High 35639486
2022 Wnt/β-catenin signaling in mural cells (pericytes/smooth muscle cells) regulates Lama2 expression in the neurovascular basement membrane; Apcdd1 knockout mice with elevated Wnt/β-catenin signaling show increased Lama2 mRNA and protein in vasculature, and in vitro activation of Wnt/β-catenin in mural cells induces Lama2 expression, which in turn promotes maturation of astrocyte endfeet (upregulation of aquaporin-4 and integrin-α6). Bulk RNA-seq of Apcdd1-/- vs. wild-type retinas; in vitro Wnt/β-catenin activation in mural cells; immunofluorescence; cell-type attribution of Lama2 expression Development (Cambridge, England) Medium 36098369
2020 LAMA2 regulates the osteogenic/adipogenic fate commitment of mesenchymal stem cells (MSCs) by modulating the hedgehog signaling pathway: LAMA2 inhibits osteogenesis and promotes adipogenesis both in vitro and in vivo, as demonstrated by loss- and gain-of-function experiments with siRNA knockdown and overexpression, and Western blot analysis of hedgehog pathway components. Gain- and loss-of-function experiments in hMSCs (siRNA and overexpression); osteogenic/adipogenic differentiation assays in vitro and in vivo (implantation); Western blot of hedgehog pathway Stem cell research & therapy Medium 32213190
2020 Mex3a binds directly to LAMA2 mRNA (demonstrated by RNA immunoprecipitation) and promotes its instability, causing downregulation of LAMA2 in lung adenocarcinoma cells; reduced LAMA2 levels activate the PI3K-AKT pathway, promoting cell migration and invasion. RNA immunoprecipitation (RIP) assay; Mex3a knockdown; transcriptome sequencing; cell migration/invasion assays; PI3K-AKT pathway activity assessment Cell death & disease Medium 32792503
2022 LAMA2 protein (0.5 µg/mL) incorporated into GelMA hydrogel promotes pancreatic endocrine progenitor differentiation through integrin subunit α7 (ITGA7), which activates Integrin-AKT signaling to upregulate transcription factors FOXA2 and PDX1; LAMA2 knockdown during early pancreatic progenitor differentiation markedly decreases the FOXA2+/GATA6+ cluster. LAMA2-GelMA hybrid hydrogel; LAMA2 knockdown during differentiation; single-cell transcriptomics; Western blot of ITGA7, FOXA2, PDX1; in vivo xenograft assay Biomaterials Medium 36334352
2023 The transcription factor Brn4 directly binds to the Lama2 promoter (confirmed by ChIP and dual-luciferase reporter assays) and upregulates Lama2 expression; Lama2 (along with Samsn1) mediates Brn4-induced inhibition of hippocampal neural stem cell proliferation and promotion of neuronal differentiation. ChIP assay; dual-luciferase reporter gene assay; Lama2 knockdown; EdU incorporation; cell cycle analysis; immunofluorescence Stem cells international Medium 37091532
2023 In LAMA2-null (dy3K/dy3K) mice, compensatory laminin-α4 lacks the polymerization property and α-dystroglycan-binding property of laminin-α2; transgenic expression of both αLNNd (enables laminin-α4 polymerization) and miniagrin (increases laminin binding to α-dystroglycan) together improve survival three-fold, increase muscle mass and grip strength, increase myofiber size, reduce fibrosis, and elevate matrix-bound laminin subunits — effects largely mediated through modified laminin-411. Transgenic dual-construct expression in dy3K/dy3K mice; grip strength; body weight; survival; histology (fibrosis, myofiber size); Western blot and immunostaining of laminin subunits; mTOR/Akt phosphorylation assays Matrix biology High 36878377
2023 Linker protein expression in all tissues (not restricted to muscle) in dy/dy mice prevents hindlimb paralysis and ameliorates peripheral nerve pathology, demonstrating that laminin α2 is required in peripheral nerve (not just muscle) for maintenance of Schwann cell–axon interactions and myelination. Ubiquitous vs. muscle-specific transgenic expression of mini-agrin and αLNNd in dy/dy mice; motor function; histology of peripheral nerve; survival PNAS nexus High 37038437
2007 An intronic deletion in LAMA2 (7nt deletion in intron 17) causes complete skipping of exon 17 (confirmed by ex vivo RT-PCR approach), and a frameshift deletion in exon 57 together result in nonsense mRNAs subject to nonsense-mediated decay, causing complete laminin-α2 deficiency. Ex vivo minigene/RT-PCR approach demonstrating exon 17 skipping caused by intronic mutation; direct sequencing Neuromuscular disorders : NMD Medium 18053718
2001 A nonsense mutation (Arg744Stop) in exon 15 of LAMA2 causes exon 15 skipping despite intact consensus splice sequences, restoring the reading frame and producing a truncated but partially functional protein; this nonsense-mediated exon skipping explains the mild phenotype in affected siblings. RT-PCR analysis of patient muscle mRNA; sequencing of mutant transcript; identification of exon skipping Brain : a journal of neurology Medium 11287370
2025 Single-cell RNA sequencing of mouse brain reveals that Lama2 is expressed predominantly and specifically in vascular and leptomeningeal fibroblasts and vascular smooth muscle cells (and weakly in astrocytes), not in neurons; in Lama2-knockout (dyH/dyH) mice, decreased Lama2 expression in these cell types is associated with disruption of gliovascular basal lamina assembly. CRISPR-Cas9 Lama2 knockout mice (dyH/dyH); single-cell RNA sequencing; bulk RNA-seq; immunofluorescence eLife Medium 40960171

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 Size-distribution analysis of macromolecules by sedimentation velocity ultracentrifugation and lamm equation modeling. Biophysical journal 3283 10692345
1995 Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature genetics 555 7550355
1994 Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nature genetics 325 7874173
1998 Sedimentation analysis of noninteracting and self-associating solutes using numerical solutions to the Lamm equation. Biophysical journal 299 9726952
1997 Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS letters 227 9326364
2005 Sedimentation velocity analysis of heterogeneous protein-protein interactions: Lamm equation modeling and sedimentation coefficient distributions c(s). Biophysical journal 154 15863475
2010 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscular disorders : NMD 153 20207543
2020 Mex3a interacts with LAMA2 to promote lung adenocarcinoma metastasis via PI3K/AKT pathway. Cell death & disease 126 32792503
2002 Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). European journal of human genetics : EJHG 105 11938437
1998 Determination of molecular parameters by fitting sedimentation data to finite-element solutions of the Lamm equation. Biophysical journal 90 9449345
2018 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. Human mutation 81 30055037
2020 LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. Frontiers in molecular neuroscience 74 32848593
2017 Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. Science translational medicine 70 28659438
1999 Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. Laboratory investigation; a journal of technical methods and pathology 68 10616210
2005 Modeling analytical ultracentrifugation experiments with an adaptive space-time finite element solution of the Lamm equation. Biophysical journal 63 15980162
2008 LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical genetics 56 18700894
1996 Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. The Journal of biological chemistry 55 8910357
2011 Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle & nerve 53 21953594
1998 Disruption of the lama2 gene in embryonic stem cells: laminin alpha 2 is necessary for sustenance of mature muscle cells. Experimental cell research 53 9633519
2008 A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination. Journal of cell science 51 18430779
1998 PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. Journal of medical genetics 49 9541105
2015 LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & nerve 44 25663498
2014 Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. Neuromuscular disorders : NMD 44 24957499
2003 Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. Human mutation 44 12552556
2020 Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics. Frontiers in molecular neuroscience 39 32116540
2001 Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. Brain : a journal of neurology 33 11287370
2014 Atypical phenotype in two patients with LAMA2 mutations. Neuromuscular disorders : NMD 32 24534542
2020 LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. Frontiers in molecular neuroscience 29 32390798
2020 LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling. Stem cell research & therapy 27 32213190
2008 LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 26 18406646
2005 LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Archives of neurology 26 16216942
2016 IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy. Human molecular genetics 24 27798092
2011 Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer. International journal of oncology 24 22038115
2013 Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice. Stem cell reviews and reports 23 22664740
2020 Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. Frontiers in molecular neuroscience 22 32116541
2011 Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular genetics and metabolism 22 21752681
2020 Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models. Frontiers in molecular neuroscience 21 32792907
2018 Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. Molecular therapy. Methods & clinical development 21 29766020
2004 LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. Neurology 21 15452315
1998 An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 20 10726842
2019 Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET. Therapeutic advances in endocrinology and metabolism 19 30728939
2011 Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC medical genetics 19 21306635
2000 Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscular disorders : NMD 19 11053680
2018 Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. Scientific reports 18 30301903
2022 Mural Wnt/β-catenin signaling regulates Lama2 expression to promote neurovascular unit maturation. Development (Cambridge, England) 17 36098369
2021 Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study. BMC neurology 17 34384384
2020 Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 17 32444167
2000 Muscular dystrophy alters the processing of light acetylcholinesterase but not butyrylcholinesterase forms in liver of Lama2(dy) mice. Journal of neuroscience research 17 11002295
2022 Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN linker protein. JCI insight 16 35639486
2019 Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes. Frontiers in molecular neuroscience 15 31920536
2015 Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. Brain & development 15 26304763
2023 Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal of neuromuscular diseases 14 37182895
2022 An artificial LAMA2-GelMA hydrogel microenvironment for the development of pancreatic endocrine progenitors. Biomaterials 13 36334352
2021 Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature. Seizure 13 34325301
2018 Staphylococcal Superantigens Use LAMA2 as a Coreceptor To Activate T Cells. Journal of immunology (Baltimore, Md. : 1950) 13 29335257
2018 Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy. Iranian biomedical journal 13 29707938
2014 Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients. Journal of neuromuscular diseases 13 27858771
2007 LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. Neuromuscular disorders : NMD 13 18053718
2001 Identification of inactive ecto-5'-nucleotidase in normal mouse muscle and its increased activity in dystrophic Lama2(dy) mice. Journal of neuroscience research 13 11746385
2022 Epigenetic regulation of LINC01270 in breast cancer progression by mediating LAMA2 promoter methylation and MAPK signaling pathway. Cell biology and toxicology 12 36241925
2020 Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD. Skeletal muscle 12 32498713
2023 Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases. Journal of neuromuscular diseases 11 37005889
2023 Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy. PNAS nexus 11 37038437
2021 Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of neurology 11 34559299
2007 Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. Genetic testing 11 17949279
2022 Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. Neuromuscular disorders : NMD 10 35868898
2020 Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). Journal of neuropathology and experimental neurology 10 32827036
2019 Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. Neuromuscular disorders : NMD 10 31040037
2019 Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. Human molecular genetics 10 31348492
2011 Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. BMC research notes 10 22166137
2003 Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscular disorders : NMD 10 12467726
2020 Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 9 32904964
1998 An improved approximate solution of the Lamm equation for the simultaneous estimation of sedimentation and diffusion coefficients from sedimentation velocity experiments. Biophysical chemistry 9 17027450
2018 COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. Journal of clinical neuromuscular disease 8 29465610
2017 Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. Biomedical reports 8 28804634
2017 Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy. Neuromuscular disorders : NMD 8 28818390
2017 A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient. Internal medicine (Tokyo, Japan) 8 29225264
2024 An international retrospective early natural history study of LAMA2-related dystrophies. Journal of neuromuscular diseases 7 39177609
2021 Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. Journal of veterinary internal medicine 7 34854126
2019 Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 7 31309178
2018 LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Case reports in genetics 7 30147969
2021 Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report. BMC medical genomics 6 33882917
2020 Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). Frontiers in molecular neuroscience 6 32742259
2017 Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD. PloS one 6 28771630
2014 Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Indian pediatrics 6 25432227
2023 CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy. bioRxiv : the preprint server for biology 5 36945402
2023 Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy. Disease models & mechanisms 5 37021539
2022 Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscular disorders : NMD 5 35989179
2021 Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. Journal of clinical laboratory analysis 5 34528292
2019 A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. Biomedical reports 5 31929873
2018 Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy. Frontiers in genetics 5 29487616
2014 LAMA2-related congenital muscular dystrophy complicated by West syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 5 25500573
2025 A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype. eLife 4 40960171
2024 European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain. Neuromuscular disorders : NMD 4 38306718
2024 Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy. Journal of genetics and genomics = Yi chuan xue bao 4 38777118
2023 Dual transgene amelioration of Lama2-null muscular dystrophy. Matrix biology : journal of the International Society for Matrix Biology 4 36878377
2023 Lama2 And Samsn1 Mediate the Effects of Brn4 on Hippocampal Neural Stem Cell Proliferation and Differentiation. Stem cells international 4 37091532
2023 Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients. Frontiers in genetics 4 37388928
2020 Novel LAMA2 variants identified in a patient with white matter abnormalities. Human genome variation 4 32509318
2011 Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. Bioscience reports 4 20477750

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