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Pages in category "Collagen disease" The following 23 pages are in this category, out of 23 total. This list may not reflect recent changes. ...
Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be more appropriate for diseases associated with defects in collagen, which is a component of the connective tissue.
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affects the connective tissue. [1] The body's structures are held together by connective tissues, consisting of two distinct proteins : elastin and collagen .
Lysine (symbol Lys or K) [2] is an α-amino acid that is a precursor to many proteins.Lysine contains an α-amino group (which is in the protonated −NH + 3 form when the lysine is dissolved in water at physiological pH), an α-carboxylic acid group (which is in the deprotonated −COO − form when the lysine is dissolved in water at physiological pH), and a side chain (CH 2) 4 NH 2 (which ...
Collagens are complex molecules that provide structure, strength, and elasticity to connective tissue. Type II and type XI collagen disorders are grouped together because both types of collagen are components of the cartilage found in joints and the spinal column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous ...
Lysyl hydroxylases (or procollagen-lysine 5-dioxygenases) are alpha-ketoglutarate-dependent hydroxylases enzymes that catalyze the hydroxylation of lysine to hydroxylysine. [ 1 ] [ 2 ] Lysyl hydroxylases require iron and vitamin C as cofactors for their oxidation activity.
Bethlem myopathy is a slowly progressive muscle disease characterized predominantly by contractures, rigidity of the spine, skin abnormalities and proximal muscle weakness. [ 5 ] [ 11 ] Symptoms may present as early as infancy, with typical contractures and hyperlaxity of joints; however, in some patients, symptoms may go unnoticed until ...
Type XI collagen is a complex molecule that helps give structure and strength to the connective tissues. [5] Collagen is found in bone. It is also found in cartilage that makes up most of the skeleton during early development. The mutation of COL11A2 in Weissenbacher-Zweymüller syndrome disrupts the assembly of the type XI collagen molecules. [5]