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Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
30/30 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
The 30 checked references that resolve
resolves10.1073/pnas.0610270104
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
resolves10.1093/hmg/ddi025
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
resolves10.1093/hmg/7.13.2135
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy
resolves10.1083/jcb.135.4.1163
Distinct regions control transcriptional activation of the alpha1(VI) collagen promoter in different tissues of transgenic mice.
resolves10.1016/j.yexcr.2008.08.006
An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells
resolves10.1038/nm.2247
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
resolves10.1016/j.cell.2013.02.053
Type 2 Innate Signals Stimulate Fibro/Adipogenic Progenitors to Facilitate Muscle Regeneration
resolves10.1083/jcb.200204076
α1-Syntrophin–deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration
resolves10.1038/ng1270
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
resolves10.1212/01.WNL.0000113023.84421.00
Ullrich disease due to deficiency of collagen VI in the sarcolemma
resolves10.1016/j.nmd.2012.10.025
Imatinib attenuates severe mouse dystrophy and inhibits proliferation and fibrosis-marker expression in muscle mesenchymal progenitors
resolves10.1038/ncb2015
Muscle injury activates resident fibro/adipogenic progenitors that facilitate myogenesis
resolves10.1128/MCB.01300-08
Metabolic Dysregulation and Adipose Tissue Fibrosis: Role of Collagen VI
resolves10.1038/nm.1956
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
resolves10.1242/dev.064162
Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration
resolves10.1055/s-2008-1059651
A CLINICAL AND HISTOLOGICAL STUDY OF ULLRICH'S DISEASE (CONGENITAL ATONIC-SCLEROTIC MUSCULAR DYSTROPHY)
resolves10.1093/brain/awp236
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
resolves10.1212/01.wnl.0000271387.10404.4e
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
resolves10.1038/ncb2014
Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle
resolves10.1242/jcs.086629
Fibrosis and adipogenesis originate from a common mesenchymal progenitor in skeletal muscle
resolves10.1007/BF02864097
Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems
resolves10.1128/MCB.23.9.3363-3372.2003
The Grb10/Nedd4 Complex Regulates Ligand-Induced Ubiquitination and Stability of the Insulin-Like Growth Factor I Receptor
resolves10.1136/jnnp-2012-304710
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
resolves10.1093/brain/awu210
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice
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