Lights on for aminopeptidases in cystic kidney disease

Journal of Clinical Investigation

Volumn 120, Issue 3, 2010, Pages 660-663

  Böttinger, Erwin P ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOPEPTIDASE; LEUCINE RICH REPEAT KINASE 2; PROLINE IMINOPEPTIDASE; PROLINE IMINOPEPTIDASE 3; TRANSCRIPTION FACTOR GLI2; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; BARDET BIEDL SYNDROME; BONE DISEASE; CENTROSOME; COGNITIVE DEFECT; CYTOSOL; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EUKARYOTIC FLAGELLUM; GENE MUTATION; GENETIC DAMAGE; HEMISPHERIC DOMINANCE; HERRING; HUMAN; KIDNEY CYST; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; LIVER DISEASE; MITOCHONDRION; NEPHRONOPHTHISIS; NONHUMAN; NOTE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DEGENERATION; SIGNAL TRANSDUCTION;

AMINOPEPTIDASES; ANIMALS; CENTROSOME; CHROMOSOME MAPPING; CILIA; FAMILY; FEMALE; GENETIC DISEASES, INBORN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; KIDNEY; KIDNEY FAILURE; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; RATS; RATS, SPRAGUE-DAWLEY; ZEBRAFISH;

EID: 77949671506     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI42378     Document Type: Note

References (18)

1. Pazour GJ, Witman GB. The vertebrate primary cilium is a sensory organelle. Curr Opin Cell Biol. 2003;15(1):105-110.
2. Gerdes JM, Davis EE, Katsanis N. The vertebrate primary cilium in development, homeostasis, and disease. Cell. 2009;137(1):32-45.
3. Singla V, Reiter JF. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science. 2006;313(5787):629-633.
4. Tobin JL, Beales PL. The nonmotile ciliopathies. Genet Med. 2009;11(6):386-402.
5. Scholey JM. Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol. 2008;180(1):23-29.
6. Rohatgi R, Milenkovic L, Scott MP. Patched1 regulates hedgehog signaling at the primary cilium. Science. 2007;317(5836):372-376.
7. Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF. Vertebrate smoothened functions at the primary cilium. Nature. 2005;437(7061):1018-1021.
8. Gerdes JM, Katsanis N. Ciliary function and Wnt signal modulation. Curr Top Dev Biol. 2008;85:175-195.
9. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009;20(1):23-35.
10. Lancaster MA, et al. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med. 2009;15(9):1046-1054.
11. Otto EA, et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 2009;46(10):663-670.
12. Attanasio M, et al. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and f ibrosis. Nat Genet. 2007; 39(8):1018-1024.
13. O'Toole J, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010;120(3):791-802.
14. Ersahin C, Szpaderska AM, Orawski AT, Simmons WH. Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions. Arch Biochem Biophys. 2005;435(2):303-310.
15. Kim KS, Kumar S, Simmons WH, Brown NJ. Inhibition of aminopeptidase P potentiates wheal response to bradykinin in angiotensin-converting enzyme inhibitor-treated humans. J Pharmacol Exp Ther. 2000;292(1):295-298.
16. Sayer JA, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006; 38(6):674-681.
17. Li G, et al. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007;3(1):e8.
18. Sullivan-Brown J, et al. Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants. Dev Biol. 2008;314(2):261-275.