Universität zu Köln

Bultmann-Mellin, Insa, Conradi, Anne, Maul, Alexandra C., Dinger, Katharina, Wempe, Frank, Wohl, Alexander P., Imhof, Thomas, Wunderlich, F. Thomas, Bunck, Alexander C., Nakamura, Tomoyuki, Koli, Katri, Bloch, Wilhelm, Ghanem, Alexander, Heinz, Andrea ORCID: 0000-0002-8609-4460, Von Melchner, Harald, Sengle, Gerhard and Sterner-Kock, Anja (2015). Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. Dis. Model. Mech., 8 (4). S. 403 - 416. CAMBRIDGE: COMPANY BIOLOGISTS LTD. ISSN 1754-8411

Full text not available from this repository.

Abstract

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 discovered based on similar elastic fiber abnormalities exhibited by mice lacking the short Ltbp-4 isoform (Ltbp4S(-/-)), the murine phenotype does not replicate ARCL1C. We therefore inactivated both Ltbp-4 isoforms in the mouse germline to model ARCL1C. Comparative analysis of Ltbp4S(-/-) and Ltbp4-null (Ltbp4(-/-)) mice identified Ltbp-4L as an important factor for elastogenesis and postnatal survival, and showed that it has distinct tissue expression patterns and specific molecular functions. We identified fibulin-4 as a previously unknown interaction partner of both Ltbp-4 isoforms and demonstrated that at least Ltbp-4L expression is essential for incorporation of fibulin-4 into the extracellular matrix (ECM). Overall, our results contribute to the current understanding of elastogenesis and provide an animal model of ARCL1C.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bultmann-Mellin, Insa UNSPECIFIED UNSPECIFIED UNSPECIFIED Conradi, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Maul, Alexandra C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dinger, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Wempe, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Wohl, Alexander P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Imhof, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Wunderlich, F. Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Bunck, Alexander C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nakamura, Tomoyuki UNSPECIFIED UNSPECIFIED UNSPECIFIED Koli, Katri UNSPECIFIED UNSPECIFIED UNSPECIFIED Bloch, Wilhelm UNSPECIFIED UNSPECIFIED UNSPECIFIED Ghanem, Alexander UNSPECIFIED UNSPECIFIED UNSPECIFIED Heinz, Andrea UNSPECIFIED orcid.org/0000-0002-8609-4460 UNSPECIFIED Von Melchner, Harald UNSPECIFIED UNSPECIFIED UNSPECIFIED Sengle, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Sterner-Kock, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-403355
DOI:	10.1242/dmm.018960
Journal or Publication Title:	Dis. Model. Mech.
Volume:	8
Number:	4
Page Range:	S. 403 - 416
Date:	2015
Publisher:	COMPANY BIOLOGISTS LTD
Place of Publication:	CAMBRIDGE
ISSN:	1754-8411
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BETA-BINDING-PROTEIN; LUNG DEVELOPMENT; LYSYL OXIDASE; IN-VIVO; GROWTH; ELASTOGENESIS; FIBULIN-4; ELASTIN; MATRIX; MORPHOGENESIS Multiple languages Cell Biology; Pathology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/40335