Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker‐Warburg syndrome (cerebroocular dysplasia‐muscular dystrophy)

Wewer, Ulia M.; Durkin, Marian E.; Zhang, X.; Laursen, Henriette; Nielsen, Niels Hilmer; Towfighi, Javad; Engvall, Eva; Albrechtsen, Reidar

doi:10.1212/wnl.45.11.2099

Cited by 60 publications

(19 citation statements)

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“…Other proteins may be reduced, i.e. laminin-b2 [81], perlecan [80] and P180 [75,82]. Ultrastructural analysis has revealed some changes, but it is not clear if these are specific or due to muscle regeneration/degeneration and generalised basal lamina damage [80,83].…”

Section: Diagnosismentioning

confidence: 99%

Congenital muscular dystrophy: molecular and cellular aspects

Jiménez‐Mallebrera

Brown

Sewry

et al. 2005

CMLS, Cell. Mol. Life Sci.

123

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The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype, but there is overlap between some entities and their classification is based on a combination of clinical features and the primary or secondary protein defect. Recent studies have identified the genetic basis of a number of congenital muscular dystrophies (11 genes in total) and have recognised a novel pathological mechanism that highlights the importance of the correct posttranslational processing of proteins, in particular alpha-dystroglycan. Diagnosis of these conditions has been aided by the availability of specific antibodies for each protein and a better understanding of the protein changes that accompany each condition. In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments.

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Section: Diagnosismentioning

confidence: 99%

Congenital muscular dystrophy: molecular and cellular aspects

Jiménez‐Mallebrera

Brown

Sewry

et al. 2005

CMLS, Cell. Mol. Life Sci.

123

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“…Both FCMD and MEB display secondary laminin h2 defects, indicating that the primary defect affects laminin h2 synthesis or assembly. Walker Warburg syndrome constitutes another subgroup of CMD where a subset of patients have been reported to have disturbed laminin i2 chain levels [56,140]. Reduced laminin i1 chain levels in skeletal muscle have also been reported in a dominant myopathy [141].…”

Section: Muscle Disease Indirectly Affecting Laminin Distributionmentioning

confidence: 99%

Laminins during muscle development and in muscular dystrophies

Gullberg¹,

Tiger²,

Velling³

1999

CMLS, Cell. Mol. Life Sci.

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Cellular interactions with the extracellular h4 and h5 chains are major laminin chains in the matrix during muscle formation and in muscular dystro-muscle basement membrane during muscle formation, but laminin h4 and h5 chains are absent in adult phy have received increased interest during the past years. Laminins constitute a growing family of proteins muscle. The importance of laminins for muscle integrity with complex expression patterns in forming basement is manifested in congenital muscular dystrophies with defects in the laminin h2 chain. There is no good membranes during muscle development. In skeletal evidence for the presence of laminin h1 chain in dysmuscle, laminins constitute major ligands for cell surtrophic muscle, but some other fetal muscle laminins face receptors involved in the transmission of force from the cell interior, but laminins might also influence signal can be detected in dystrophic muscle. Characterization transmission events during muscle formation and in of laminin expression patterns in muscular dystrophies might be of diagnostic and therapeutic value. In this muscle regeneration. During myogenesis the laminin h1 paper, we review the recent publications on the biologichain is present around the epithelial somite; but later, in forming muscle, the laminin h1 chain is restricted to cal functions of muscle laminins and discuss their roles the myotendinous junction. The laminin h2, in skeletal muscle.

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“…The altered expression of laminin chains leads to various human neuropathologies (Olson and Walsh, 2002). Specifically, perturbations in the ␣2 chain induce severe congenital muscular dystrophy associated with demyelination (Helbling-Leclerc et al, 1995), and reduced ␤2 chain expression is seen in Walker-Warburg syndrome, a cerebroocular dysplasia (Wewer et al, 1995). Finally, experimentally induced mutations in CNS laminins or laminin receptors also produce profound defects in cortical morphogenesis (Georges-Labouesse et al, 1998;Halfter et al, 2002;Moore et al, 2002).…”

mentioning

confidence: 99%

Collagen XVII and BPAG1 expression in the retina: Evidence for an anchoring complex in the central nervous system

et al. 2005

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The ectoderm gives rise not only to the skin but also to the entire CNS. This common embryonic lineage suggests that some molecular isoforms might serve analogous functions in both tissues. Indeed, not only are laminins important components of dermal adhesion mechanisms, but they also regulate some aspects of synaptic development in both the CNS and the PNS. In the skin, laminins are part of a hemidesmosome complex essential for basal keratinocyte adhesion that includes collagen XVII (BP180) and BPAG1 (dystonin/BP230). Here, we show that CNS neurons also express collagen XVII and BPAG1 and that these molecules are expressed in the adult and developing retina. In the retina, isoforms of collagen XVII and BPAG1 are colocalized with laminins at photoreceptor synapses and around photoreceptor outer segments; both molecules are expressed by rods, whereas cones express collagen XVII but not BPAG1. Moreover, biochemical data demonstrate that collagen XVII complexes with retinal laminins. We propose that collagen XVII and BPAG1 isoforms may help to anchor elements of the rod photoreceptor cytomatrix to the extracellular matrix.

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Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker‐Warburg syndrome (cerebroocular dysplasia‐muscular dystrophy)

Cited by 60 publications

References 0 publications

Congenital muscular dystrophy: molecular and cellular aspects

Congenital muscular dystrophy: molecular and cellular aspects

Laminins during muscle development and in muscular dystrophies

Collagen XVII and BPAG1 expression in the retina: Evidence for an anchoring complex in the central nervous system

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