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Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond
123/123 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.
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The 123 checked references that resolve
resolves10.1016/0014-4827(92)90200-R
Corneal cell-matrix interactions: Type VI Collagen promotes adhesion and spreading of corneal fibroblasts
resolves10.1006/excr.1993.1134
Integrin and Arg-Gly-Asp Dependence of Cell Adhesion to the Native and Unfolded Triple Helix of Collagen Type VI
resolves10.1074/jbc.M104058200
Selective Binding of Collagen Subtypes by Integrin α1I, α2I, and α10I Domains
resolves10.1038/ncomms15861
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
resolves10.1002/mgg3.142
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
resolves10.1091/mbc.e02-05-0259
Distribution and Evolution of von Willebrand/Integrin A Domains: Widely Dispersed Domains with Roles in Cell Adhesion and Elsewhere
resolves10.1074/jbc.M510192200
The C5 Domain of the Collagen VI α3(VI) Chain Is Critical for Extracellular Microfibril Formation and Is Present in the Extracellular Matrix of Cultured Cells
resolves10.1074/jbc.M109932200
Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations
resolves10.1002/j.1460-2075.1989.tb03598.x
Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.
resolves10.1016/j.str.2013.06.028
A Structure of a Collagen VI VWA Domain Displays N and C Termini at Opposite Sides of the Protein
resolves10.1002/j.1460-2075.1992.tb05527.x
Structure of recombinant N‐terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan.
resolves10.1074/jbc.M111.265595
Collagen VI, Conformation of A-domain Arrays and Microfibril Architecture
resolves10.1016/j.actbio.2016.12.023
Defining the hierarchical organisation of collagen VI microfibrils at nanometre to micrometre length scales
resolves10.1074/jbc.M304638200
Complexes of Matrilin-1 and Biglycan or Decorin Connect Collagen VI Microfibrils to Both Collagen II and Aggrecan
resolves10.1038/ng0996-113
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
resolves10.1074/jbc.M114.632208
Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain
resolves10.1073/pnas.121027598
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
resolves10.1016/j.nmd.2007.03.017
Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
resolves10.1093/hmg/ddi025
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
resolves10.1002/ana.21439
Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity
resolves10.1212/01.wnl.0000271387.10404.4e
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
resolves10.1016/j.bbadis.2014.05.033
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
resolves10.1016/j.cell.2016.05.053
Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine
resolves10.1242/jcs.120220
Nonsense-mediated mRNA decay of collagen – emerging complexity in RNA surveillance mechanisms
resolves10.1002/ana.20586
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
resolves10.1086/340608
Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy
resolves10.1002/ana.22283
Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy
resolves10.1093/hmg/7.6.981
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
resolves10.1002/humu.22429
Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies
resolves10.1136/jmg.2004.023754
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
resolves10.1212/01.WNL.0000163990.00057.66
Detection of common and private mutations in the
<i>COL6A1</i>
gene of patients with Bethlem myopathy
resolves10.1074/jbc.274.31.21817
Bethlem Myopathy and Engineered Collagen VI Triple Helical Deletions Prevent Intracellular Multimer Assembly and Protein Secretion
resolves10.1016/j.nmd.2006.07.015
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
resolves10.4103/0366-6999.186638
“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies
resolves10.1074/jbc.M109.093666
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy
resolves10.1074/jbc.M110.152520
Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy
resolves10.1016/j.ajhg.2015.04.010
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
resolves10.1002/mds.26600
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High‐Throughput Sequencing
resolves10.1093/hmg/7.13.2135
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy
resolves10.1074/jbc.M112.433078
COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy
resolves10.1038/ng.3901
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
resolves10.1534/g3.115.021923
A Nonsense Variant in <i>COL6A1</i> in Landseer Dogs with Muscular Dystrophy
resolves10.1111/jvim.12224
Sarcolemmal Specific Collagen VI Deficient Myopathy in a Labrador Retriever
resolves10.1093/hmg/ddv368
Two novel COLVI long chains in zebrafish that are essential for muscle development
resolves10.1371/journal.pone.0133986
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish
resolves10.3389/fnagi.2016.00131
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
resolves10.1016/j.matbio.2010.10.001
Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice
resolves10.1002/ajmg.a.30443
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes
resolves10.1371/journal.pone.0105686
Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
resolves10.1038/ng1270
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
resolves10.32098/mltj.04.2013.08
Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies
resolves10.1093/hmg/ddp126
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
resolves10.1111/j.1476-5381.2009.00316.x
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in<i>Col6a1</i><sup>−/−</sup>myopathic mice
resolves10.1093/hmg/ddu254
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models
resolves10.1097/00002060-200211001-00018
Oxidative Stress and the Pathogenesis of Muscular Dystrophies
resolves10.1152/physrev.00026.2013
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
resolves10.1093/hmg/ddq339
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
resolves10.1038/nm.2247
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
resolves10.1080/15548627.2015.1108508
Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice
resolves10.1172/JCI40373
Repairing skeletal muscle: regenerative potential of skeletal muscle stem cells
resolves10.3389/fnagi.2014.00244
Cyclosporin A Promotes in vivo Myogenic Response in Collagen VI-Deficient Myopathic Mice
resolves10.1080/15548627.2016.1231279
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
resolves10.1073/pnas.0800962105
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
resolves10.1155/2011/139194
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
resolves10.1007/s00125-016-4130-1
Endotrophin, a multifaceted player in metabolic dysregulation and cancer progression, is a predictive biomarker for the response to PPARγ agonist treatment
resolves10.1006/bbrc.2001.6227
The C5 Domain of Col6A3 Is Cleaved Off from the Col6 Fibrils Immediately after Secretion
resolves10.1002/j.1460-2075.1990.tb08122.x
Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors.
resolves10.1172/JCI23424
Adipocyte-derived collagen VI affects early mammary tumor progression in vivo, demonstrating a critical interaction in the tumor/stroma microenvironment
resolves10.1093/jmcb/mjt010
NG2/CSPG4-collagen type VI interplays putatively involved in the microenvironmental control of tumour engraftment and local expansion
resolves10.1002/emmm.201202006
Inhibition of endotrophin, a cleavage product of collagen VI, confers cisplatin sensitivity to tumours
resolves10.1016/j.ccr.2012.01.004
TEM8/ANTXR1 Blockade Inhibits Pathological Angiogenesis and Potentiates Tumoricidal Responses against Multiple Cancer Types
resolves10.1016/j.matbio.2014.12.002
Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis
resolves10.2174/156802608786413474
Peroxisome Proliferator-Activated Receptor &#947; Agonists as Insulin Sensitizers: From the Discovery to Recent Progress
resolves10.1007/s00125-016-4094-1
Serum endotrophin identifies optimal responders to PPARγ agonists in type 2 diabetes
resolves10.1007/s12519-014-0481-1
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy
resolves10.1136/jmedgenet-2014-102819
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
resolves10.1111/cge.12185
Phenotypic variability of a likely <scp>FA2H</scp> founder mutation in a family with complicated hereditary spastic paraplegia
resolves10.1002/humu.22691
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
resolves10.5535/arm.2014.38.2.292
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
resolves10.1016/S0960-8966(99)00014-0
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
resolves10.1212/WNL.0b013e31827689fb
Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI
resolves10.1002/humu.21022
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
resolves10.1086/377107
New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
resolves10.1212/01.WNL.0000113023.84421.00
Ullrich disease due to deficiency of collagen VI in the sarcolemma
The 5 references without a DOI — listed, not checked
no DOI — not checkedMicrofibrillar Collagen Type VI
no DOI — not checkedIdentification and functional characterization of two type VI collagen receptors, alpha 3 beta 1 integrin and NG2, during avian corneal stromal development
no DOI — not checkedCOL6A5 variants in familial neuropathic chronic itch
no DOI — not checkedType VI Collagen
no DOI — not checkedBeyond quality control: the role of nonsense-mediated mRNA decay (NMD) in regulating gene expression
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