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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Collagen, type VI, alpha 1

COL6A1, OPLL
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: COL6A2, CAN, HAD, AGE, POLYMERASE
Papers on COL6A1
Type VI Collagen Regulates Dermal Matrix Assembly and Fibroblast Motility.
New
Connelly et al., London, United Kingdom. In J Invest Dermatol, Jan 2016
Generation of cell-derived matrices (CDMs) by human dermal fibroblasts with stable knockdown of COL6A1 revealed that type VI collagen-deficient matrices were significantly thinner and contained more aligned, thicker, and widely spaced fibers than CDMs produced by normal fibroblasts.
Accumulation and Changes in Composition of Collagens in Subcutaneous Adipose Tissue After Bariatric Surgery.
New
Clément et al., Paris, France. In J Clin Endocrinol Metab, Jan 2016
Expression levels of genes encoding ECM components (eg, COL3A1, COL6A1, COL6A2, ELN), cross-linking enzymes (eg, lysyl oxidase [LOX], LOXL4, transglutaminase), metalloproteinases, and their inhibitors were modified 1 year after BS.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
New
Allamand et al., Paris, France. In Hum Mol Genet, Jan 2016
In humans, defects in the most widely expressed heterotrimer (α123), due to mutations in the COL6A1-3 genes, cause a heterogeneous group of neuromuscular disorders, collectively termed COLVI-related muscle disorders.
A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.
New
Pilon et al., In J Clin Invest, Jan 2016
Moreover, as COL6A1 and COL6A2 are on human Chr.21q, this mechanism is highly relevant to the predisposition of patients with Down syndrome to HSCR.
Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice.
New
Bonaldo et al., Padova, Italy. In Autophagy, Nov 2015
We have previously found that persistence of dysfunctional organelles due to autophagy failure is a key event in the pathogenesis of COL6/collagen VI-related myopathies, and have demonstrated that reactivation of a proper autophagic flux rescues the muscle defects of Col6a1-null (col6a1(-/-)) mice.
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Review
New
Nishino et al., Kodaira, Japan. In J Neurol Neurosurg Psychiatry, Mar 2015
Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in either COL6A1, COL6A2 or COL6A3 gene, thereby leading to collagen VI deficiency in the ECM.
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy.
Leeb et al., Zürich, Switzerland. In G3 (bethesda), 2014
The affected Landseer dog was homozygous for a single, private nonsynonymous variant in the critical intervals, a nonsense variant in the COL6A1 gene (Chr31:39,303,964G>T; COL6A1:c.289G>T;
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
Impact
Ikegawa et al., Tokyo, Japan. In Nat Genet, 2014
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common spinal disorder among the elderly that causes myelopathy and radiculopathy.
Collagen type VI myopathies.
Review
Hicks et al., Newcastle upon Tyne, United Kingdom. In Adv Exp Med Biol, 2013
Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy.
Genetics and heritability of cervical spondylotic myelopathy and ossification of the posterior longitudinal ligament: results of a systematic review.
Review
Fehlings et al., Toronto, Canada. In Spine (phila Pa 1976), 2013
Within the 19 case-control studies related to question 2, 2 single nucleotide polymorphisms (COL6A1/Intron 32(-29) and COL11A2/Intron 6(-4)) were observed at higher frequencies in OPLL cases than in controls in more than 1 study and may be associated with its development.
The expanded collagen VI family: new chains and new questions.
Review
Hansen et al., In Connect Tissue Res, 2012
Three genetically distinct collagen VI chains, α1(VI), α2(VI) and α3(VI), encoded by the COL6A1.
[Research progress of bone morphogenetic protein and liability of ossification of posterior longitudinal ligament].
Review
Yadav et al., Tianjin, China. In Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi, 2012
OBJECTIVE: To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL).
Identification of the up-regulation of TP-alpha, collagen alpha-1(VI) chain, and S100A9 in esophageal squamous cell carcinoma by a proteomic method.
GeneRIF
Meng et al., Luoyang, China. In J Proteomics, 2012
TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC.
Absence of type VI collagen paradoxically improves cardiac function, structure, and remodeling after myocardial infarction.
GeneRIF
Meszaros et al., United States. In Circ Res, 2012
Deletion of type VI collagen in this knockout model plays a critical protective role after myocardial infarct by limiting infarct size, chronic apoptosis, aberrant remodeling, and fibrosis, leading to preservation of cardiac function.
Type VI collagen deficiency induces osteopenia with distortion of osteoblastic cell morphology.
GeneRIF
Noda et al., Tokyo, Japan. In Tissue Cell, 2012
Type VI collagen deficiency distorted the shape of osteoblasts both in the cancellous bone and in the cambium layer of periosteal region. Furthermore, type VI collagen deficiency disorganized collagen arrangement.
Physical exercise stimulates autophagy in normal skeletal muscles but is detrimental for collagen VI-deficient muscles.
GeneRIF
Bonaldo et al., Padova, Italy. In Autophagy, 2011
Physical training exacerbated the dystrophic phenotype of Col6a1-/- mice, where autophagy flux is compromised.
Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice.
GeneRIF
Guilak et al., Durham, United States. In Plos One, 2011
Altered trabecular bone structure and delayed cartilage degeneration in the knees is seen in collagen VI null mice.
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.
Impact
Ikegawa et al., Tokyo, Japan. In Nat Genet, 1998
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common form of human myelopathy caused by a compression of the spinal cord by ectopic ossification of spinal ligaments.
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
Impact
Bolhuis et al., Amsterdam, Netherlands. In Nat Genet, 1996
Nine kindreds show genetic linkage to the COL6A1-COL6A2 cluster on chromosome 21q22.3
Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group.
Impact
Antonarakis, Baltimore, United States. In N Engl J Med, 1991
These polymorphisms spanned a region of about 120 centimorgans on the long arm of chromosome 21, from the D21S13 locus (the most centromeric) to the COL6A1 gene (the most telomeric).
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