Focus on molecules: Fibulin-3 (EFEMP1)

Experimental Eye Research

Volumn 90, Issue 3, 2010, Pages 374-375

  Zhang, Youwen ^a   Marmorstein, Lihua Y ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; EXTRACELLULAR MATRIX PROTEIN 1; FIBULIN; FIBULIN 3; GELATINASE A; GELATINASE B; MEMBRANE PROTEIN; MOLECULAR MARKER; SCLEROPROTEIN; STROMELYSIN; TISSUE INHIBITOR OF METALLOPROTEINASE 1; TISSUE INHIBITOR OF METALLOPROTEINASE 3; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AUTOSOMAL DOMINANT INHERITANCE; BASEMENT MEMBRANE; BONE DEVELOPMENT; BREAST CANCER; BRUCH MEMBRANE; CELL GROWTH; CLINICAL FEATURE; DOWN REGULATION; ELASTIC FIBER; ENDOTHELIUM CELL; ENZYME ACTIVITY; GENE INACTIVATION; HUMAN; LUNG CANCER; MESENCHYME; METHYLATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; SHORT SURVEY;

EXTRACELLULAR MATRIX; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MACULAR DEGENERATION;

EID: 77649187192     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2009.09.018     Document Type: Short Survey

References (4)

1. Fu L., Garland D., Yang Z., Shukla D., Rajendran A., Pearson E., Stone E.M., Zhang K., Pierce E.A. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum. Mol. Genet. 2007, 16:2411-2422.
2. Marmorstein L.Y., McLaughlin P.J., Peachey N.S., Sasaki T., Marmorstein A.D. Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration. Hum. Mol. Genet. 2007, 16:2423-2432.
3. McLaughlin P.J., Bakall B., Choi J., Liu Z., Sasaki T., Davis E.C., Marmorstein A.D., Marmorstein L.Y. Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice. Hum. Mol. Genet. 2007, 16:3059-3070.
4. Stone E.M., Lotery A.J., Munier F.L., Heon E., Piguet B., Guymer R.H., Vandenburgh K., Cousin P., Nishimura D., Swiderski R.E., Silvestri G., Mackey D.A., Hageman G.S., Bird A.C., Sheffield V.C., Schorderet D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat. Genet. 1999, 22:199-202.