Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms

• Main Authors: Insa Bultmann-Mellin (Author), Anne Conradi (Author), Alexandra C. Maul (Author), Katharina Dinger (Author), Frank Wempe (Author), Alexander P. Wohl (Author), Thomas Imhof (Author), F. Thomas Wunderlich (Author), Alexander C. Bunck (Author), Tomoyuki Nakamura (Author), Katri Koli (Author), Wilhelm Bloch (Author), Alexander Ghanem (Author), Andrea Heinz (Author), Harald von Melchner (Author), Gerhard Sengle (Author), Anja Sterner-Kock (Author)
• Format: Book
• Published: The Company of Biologists, 2015-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C), which is a severe disorder caused by defects of the elastic fiber network. Although the human gene involved in ARCL1C has been dis...