Article
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Development (Cambridge, England) - 22 Jun 2020
Jones Lynelle K, Lam Rachel, McKee Karen K, Aleksandrova Maya, Dowling John, Alexander Stephen I, Mallawaarachchi Amali, Cottle Denny L, Short Kieran M, Pais Lynn, Miner Jeffery H, Mallett Andrew J, Simons Cas, McCarthy Hugh, Yurchenco Peter D, Smyth Ian M
Abstract excerpt
Laminin alpha 5 (LAMA5) is a member of a large family of proteins that trimerise and then polymerise to form a central component of all basement membranes. Consequently, the protein plays an instrumental role in shaping the normal development of the kidney, skin, neural tube, lung and limb, and many other organs and tissues. Pathogenic mutations in some laminins have been shown to cause a range of largely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.