成骨不全
生物
细胞外基质
Ⅰ型胶原
结缔组织
胶原蛋白,I型,α1
细胞生物学
解剖
病理
遗传学
内分泌学
医学
作者
Selvaraj Vimalraj,Saravanan Sekaran,Anuradha Dhanasekaran,Sudha Warrier
出处
期刊:Differentiation
[Elsevier]
日期:2024-02-28
卷期号:136: 100757-100757
被引量:5
标识
DOI:10.1016/j.diff.2024.100757
摘要
Collagen is a highly abundant protein in the extracellular matrix of humans and mammals, and it plays a critical role in maintaining the body's structural integrity. Type I collagen is the most prevalent collagen type and is essential for the structural integrity of various tissues. It is present in nearly all connective tissues and is the main constituent of the interstitial matrix. Mutations that affect collagen fiber formation, structure, and function can result in various bone pathologies, underscoring the significance of collagen in sustaining healthy bone tissue. Studies on type 1 collagen have revealed that mutations in its encoding gene can lead to diverse bone diseases, such as osteogenesis imperfecta, a disorder characterized by fragile bones that are susceptible to fractures. Knowledge of collagen's molecular structure, synthesis, assembly, and breakdown is vital for comprehending embryonic and foetal development and several aspects of human physiology. In this review, we summarize the structure, molecular biology of type 1 collagen, its biomineralization and pathologies affecting bone.
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