Journal article

A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy

Ian A Parish, Lincon A Stamp, Ayla May D Lorenzo, Suzanne M Fowler, Yovina Sontani, Lisa A Miosge, Debbie R Howard, Christopher C Goodnow, Heather M Young, John B Furness

AMERICAN JOURNAL OF PATHOLOGY | ELSEVIER SCIENCE INC | Published : 2016

Abstract

Chronic intestinal pseudo-obstruction (CIPO) is a rare but life-threatening disease characterized by severe intestinal dysmotility. Histopathologic studies in CIPO patients have identified several different mechanisms that appear to be involved in the dysmotility, including defects in neurons, smooth muscle, or interstitial cells of Cajal. Currently there are few mouse models of the various forms of CIPO. We generated a mouse with a point mutation in the RNA recognition motif of the Nup35 gene, which encodes a component of the nuclear pore complex. Nup35 mutants developed a severe megacolon and exhibited a reduced lifespan. Histopathologic examination revealed a degenerative myopathy that de..

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Awarded by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Funding Acknowledgements

Supported by a National Health and Medical Research Council (NHMRC) C.J. Martin Fellowship (I.A.P.), NHMRC Program grant 1016953 and NIH grant AI100627 (C.C.G.), NHMRC Senior Research Fellowship APP1002506 (H.M.Y.), and NHMRC Project grants APP1079234 (H.M.Y., L.A.S.) and APP1005811 (J.B.F.). Protein structure visualization was performed with the UCSF Chimera package, which was developed by the Resource for Biocomputing, Visualization and Informatics at the University of California, San Francisco (supported by NIGMS P41-0M103311).