Congenital muscular dystrophies: toward molecular therapeutic interventions (Q37738318)

22 August 2017

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title

Congenital muscular dystrophies: toward molecular therapeutic interventions (English)

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22 August 2017

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James Collins

1

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PubMed ID

20425232

22 August 2017

Carsten G Bönnemann

series ordinal

2

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22 August 2017

1 March 2010

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Current Neurology and Neuroscience Reports

22 August 2017

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22 August 2017

10

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22 August 2017

2

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22 August 2017

83-91

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https://scigraph.springernature.com/pub.10.1007/s11910-010-0092-8

22 August 2017

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Congenital muscular dystrophies: new aspects of an expanding group of disorders

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Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy

21 January 2018

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Selenoprotein function and muscle disease

21 January 2018

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Redox regulation of the ryanodine receptor/calcium release channel

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12 December 2020

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

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Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

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A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

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Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy

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Natural history of Ullrich congenital muscular dystrophy.

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Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy

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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

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Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

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Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors.

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Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin

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Modulation of agrin binding and activity by the CT and related carbohydrate antigens

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Three novel collagen VI chains with high homology to the alpha3 chain

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Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

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12 December 2020

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

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Phase II/III randomized trial of TCH346 in patients with ALS

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Collagen VI related muscle disorders

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The alpha7beta1 integrin in muscle development and disease

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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

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Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

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Molecular cloning of a murine N-acetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen

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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

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LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

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12 December 2020

Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice

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12 December 2020

CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice.

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

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Human laminopathies: nuclei gone genetically awry

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

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The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

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Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies

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Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.

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Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

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Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin

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Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice

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Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy.

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Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression

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Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

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Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

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12 December 2020

Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo.

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12 December 2020

The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus.

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12 December 2020

Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival

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12 December 2020

The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria.

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12 December 2020

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

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12 December 2020

Muscular dystrophies due to defective glycosylation of dystroglycan

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12 December 2020

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan

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12 December 2020

Mutations in the integrin alpha7 gene cause congenital myopathy

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12 December 2020

PTC124 targets genetic disorders caused by nonsense mutations

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12 December 2020

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

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12 December 2020

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

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12 December 2020

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

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12 December 2020

Dystroglycan: from biosynthesis to pathogenesis of human disease.

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12 December 2020

Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy

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12 December 2020

Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency

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12 December 2020

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

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12 December 2020

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

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12 December 2020

10.1007/S11910-010-0092-8

Identifiers

DOI

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22 August 2017

1 reference

PubMed ID

20425232