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A cleavage product of Polycystin-1 is a mitochondrial matrix protein that affects mitochondria morphology and function when heterologously expressed.

Lin CC, Kurashige M, Liu Y, Terabayashi T, Ishimoto Y, Wang T, Choudhary V, Hobbs R, Liu LK, Lee PH, Outeda P, Zhou F, Restifo NP, Watnick T, Kawano H, Horie S, Prinz W, Xu H, Menezes LF, Germino GG.

Sci Rep. 2018 Feb 9;8(1):2743. doi: 10.1038/s41598-018-20856-6.


A Report of the 24th Annual Congress on Women's Health-Workshop on Transforming Women's Health: From Research to Practice.

Plank-Bazinet JL, Sampson A, Kornstein SG, Germino GG, Robert-Guroff M, Gilman SE, Wetherington CL, Cook N, Cornelison TL, Begg L, Clayton JA.

J Womens Health (Larchmt). 2018 Jan;27(1):115-120. doi: 10.1089/jwh.2017.29016.orwh.


NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.

Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.

Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4.


A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.

Outeda P, Menezes L, Hartung EA, Bridges S, Zhou F, Zhu X, Xu H, Huang Q, Yao Q, Qian F, Germino GG, Watnick T.

Kidney Int. 2017 Nov;92(5):1130-1144. doi: 10.1016/j.kint.2017.04.027. Epub 2017 Jul 18.


Fatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease.

Menezes LF, Lin CC, Zhou F, Germino GG.

EBioMedicine. 2016 Jan 26;5:183-92. doi: 10.1016/j.ebiom.2016.01.027. eCollection 2016 Mar.


The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.

Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS.

J Am Soc Nephrol. 2015 Sep;26(9):2081-95. doi: 10.1681/ASN.2014121192. Epub 2015 May 7.


Systems biology of polycystic kidney disease: a critical review.

Menezes LF, Germino GG.

Wiley Interdiscip Rev Syst Biol Med. 2015 Jan-Feb;7(1):39-52. doi: 10.1002/wsbm.1289. Epub 2015 Feb 2. Review.


Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism.

Kim H, Xu H, Yao Q, Li W, Huang Q, Outeda P, Cebotaru V, Chiaravalli M, Boletta A, Piontek K, Germino GG, Weinman EJ, Watnick T, Qian F.

Nat Commun. 2014 Nov 18;5:5482. doi: 10.1038/ncomms6482.


Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.

Lee YL, Santé J, Comerci CJ, Cyge B, Menezes LF, Li FQ, Germino GG, Moerner WE, Takemaru K, Stearns T.

Mol Biol Cell. 2014 Oct 1;25(19):2919-33. doi: 10.1091/mbc.E14-02-0735. Epub 2014 Aug 7.


Murine Models of Polycystic Kidney Disease.

Menezes LF, Germino GG.

Drug Discov Today Dis Mech. 2013 Dec 1;10(3-4):e153-e158.


Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

Boddu R, Yang C, O'Connor AK, Hendrickson RC, Boone B, Cui X, Garcia-Gonzalez M, Igarashi P, Onuchic LF, Germino GG, Guay-Woodford LM.

J Mol Med (Berl). 2014 Oct;92(10):1045-56. doi: 10.1007/s00109-014-1185-7. Epub 2014 Jul 3.


Determination of urinary lithogenic parameters in murine models orthologous to autosomal dominant polycystic kidney disease.

Ferraz RR, Fonseca JM, Germino GG, Onuchic LF, Heilberg IP.

Urolithiasis. 2014 Aug;42(4):301-7. doi: 10.1007/s00240-014-0664-1. Epub 2014 May 10.


Polycystin signaling is required for directed endothelial cell migration and lymphatic development.

Outeda P, Huso DL, Fisher SA, Halushka MK, Kim H, Qian F, Germino GG, Watnick T.

Cell Rep. 2014 May 8;7(3):634-44. doi: 10.1016/j.celrep.2014.03.064. Epub 2014 Apr 24.


Impaired glomerulogenesis and endothelial cell migration in Pkd1-deficient renal organ cultures.

Rowe I, Chiaravalli M, Piontek KB, Germino GG, Boletta A.

Biochem Biophys Res Commun. 2014 Feb 21;444(4):473-9. doi: 10.1016/j.bbrc.2014.01.068. Epub 2014 Jan 25.


A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.

Liu D, Wang CJ, Judge DP, Halushka MK, Ni J, Habashi JP, Moslehi J, Bedja D, Gabrielson KL, Xu H, Qian F, Huso D, Dietz HC, Germino GG, Watnick T.

J Am Soc Nephrol. 2014 Jan;25(1):81-91. doi: 10.1681/ASN.2012050486. Epub 2013 Sep 26.


Polycystic kidney disease: Polycystin-1 and polycystin-2--it's complicated.

Watnick TJ, Germino GG.

Nat Rev Nephrol. 2013 May;9(5):249-50. doi: 10.1038/nrneph.2013.73. Epub 2013 Apr 9. No abstract available.


Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.

Menezes LF, Zhou F, Patterson AD, Piontek KB, Krausz KW, Gonzalez FJ, Germino GG.

PLoS Genet. 2012;8(11):e1003053. doi: 10.1371/journal.pgen.1003053. Epub 2012 Nov 29.


Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.

Foy RL, Chitalia VC, Panchenko MV, Zeng L, Lopez D, Lee JW, Rana SV, Boletta A, Qian F, Tsiokas L, Piontek KB, Germino GG, Zhou MI, Cohen HT.

Hum Mol Genet. 2012 Dec 15;21(26):5456-71. doi: 10.1093/hmg/dds391. Epub 2012 Sep 21.


Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1(-/-) mice.

Wachi T, Yoshida N, Funae Y, Ueno M, Germino GG, Hirotsune S, Deguchi N.

Biochem Biophys Res Commun. 2012 Aug 24;425(2):212-8. doi: 10.1016/j.bbrc.2012.07.070. Epub 2012 Jul 23.


A missense mutation in PKD1 attenuates the severity of renal disease.

Pei Y, Lan Z, Wang K, Garcia-Gonzalez M, He N, Dicks E, Parfrey P, Germino G, Watnick T.

Kidney Int. 2012 Feb;81(4):412-7. doi: 10.1038/ki.2011.370. Epub 2011 Oct 26.


Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.

Steigelman KA, Lelli A, Wu X, Gao J, Lin S, Piontek K, Wodarczyk C, Boletta A, Kim H, Qian F, Germino G, Géléoc GS, Holt JR, Zuo J.

J Neurosci. 2011 Aug 24;31(34):12241-50. doi: 10.1523/JNEUROSCI.6531-10.2011.


Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.

Ferreira FM, Oliveira LC, Germino GG, Onuchic JN, Onuchic LF.

Proc Natl Acad Sci U S A. 2011 Jun 14;108(24):9833-8. doi: 10.1073/pnas.1106766108. Epub 2011 May 27.


Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts.

Paul BM, Vassmer D, Taylor A, Magenheimer L, Carlton CG, Piontek KB, Germino GG, Vanden Heuvel GB.

Dev Dyn. 2011 Jun;240(6):1493-501. doi: 10.1002/dvdy.22625. Epub 2011 Apr 4.


T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.

Miller MM, Iglesias DM, Zhang Z, Corsini R, Chu L, Murawski I, Gupta I, Somlo S, Germino GG, Goodyer PR.

Kidney Int. 2011 Jul;80(2):146-53. doi: 10.1038/ki.2011.56. Epub 2011 Mar 9.


Pkd1 and Pkd2 are required for normal placental development.

Garcia-Gonzalez MA, Outeda P, Zhou Q, Zhou F, Menezes LF, Qian F, Huso DL, Germino GG, Piontek KB, Watnick T.

PLoS One. 2010 Sep 16;5(9). pii: e12821. doi: 10.1371/journal.pone.0012821.


mTOR inhibitors in polycystic kidney disease.

Watnick T, Germino GG.

N Engl J Med. 2010 Aug 26;363(9):879-81. doi: 10.1056/NEJMe1006925. Epub 2010 Jun 26. No abstract available.


Molecular advances in autosomal dominant polycystic kidney disease.

Gallagher AR, Germino GG, Somlo S.

Adv Chronic Kidney Dis. 2010 Mar;17(2):118-30. doi: 10.1053/j.ackd.2010.01.002. Review.


Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.

Shillingford JM, Piontek KB, Germino GG, Weimbs T.

J Am Soc Nephrol. 2010 Mar;21(3):489-97. doi: 10.1681/ASN.2009040421. Epub 2010 Jan 14.


Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion.

Bastos AP, Piontek K, Silva AM, Martini D, Menezes LF, Fonseca JM, Fonseca II, Germino GG, Onuchic LF.

J Am Soc Nephrol. 2009 Nov;20(11):2389-402. doi: 10.1681/ASN.2008040435. Epub 2009 Oct 15. Erratum in: J Am Soc Nephrol. 2010 Jun;21(6):1062.


Effect of pioglitazone on survival and renal function in a mouse model of polycystic kidney disease.

Raphael KL, Strait KA, Stricklett PK, Baird BC, Piontek K, Germino GG, Kohan DE.

Am J Nephrol. 2009;30(5):468-73. doi: 10.1159/000242432. Epub 2009 Sep 24.


Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.

Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, Germino GG, Pandolfi PP, Boletta A.

Mol Cell Biol. 2009 May;29(9):2359-71. doi: 10.1128/MCB.01259-08. Epub 2009 Mar 2.


Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells.

Raphael KL, Strait KA, Stricklett PK, Miller RL, Nelson RD, Piontek KB, Germino GG, Kohan DE.

Kidney Int. 2009 Mar;75(6):626-33. doi: 10.1038/ki.2008.659. Epub 2009 Jan 14.


Polycystic kidney disease, cilia, and planar polarity.

Menezes LF, Germino GG.

Methods Cell Biol. 2009;94:273-97. doi: 10.1016/S0091-679X(08)94014-0. Epub 2009 Dec 23. Review.


TRPP2 and TRPV4 form a polymodal sensory channel complex.

Köttgen M, Buchholz B, Garcia-Gonzalez MA, Kotsis F, Fu X, Doerken M, Boehlke C, Steffl D, Tauber R, Wegierski T, Nitschke R, Suzuki M, Kramer-Zucker A, Germino GG, Watnick T, Prenen J, Nilius B, Kuehn EW, Walz G.

J Cell Biol. 2008 Aug 11;182(3):437-47. doi: 10.1083/jcb.200805124.


Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.

Weber KH, Lee EK, Basavanna U, Lindley S, Ziegelstein RC, Germino GG, Sutters M.

Am J Physiol Renal Physiol. 2008 Jun;294(6):F1279-86. doi: 10.1152/ajprenal.00348.2007. Epub 2008 Apr 16.


ARPKD and ADPKD: first cousins or more distant relatives?

Kaimori JY, Germino GG.

J Am Soc Nephrol. 2008 Mar;19(3):416-8. doi: 10.1681/ASN.2008010033. Epub 2008 Feb 13. No abstract available.


Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.

Yu S, Hackmann K, Gao J, He X, Piontek K, García-González MA, Menezes LF, Xu H, Germino GG, Zuo J, Qian F.

Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18688-93. Epub 2007 Nov 14. Erratum in: Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1386. Gao, Jianggang [corrected to Gao, Jiangang]; Garcia Gonzalez, Miguel A [corrected to García-González].


A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.

Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG.

Nat Med. 2007 Dec;13(12):1490-5. Epub 2007 Oct 28.


Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, Katsanis N.

Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17524-9. Epub 2007 Oct 24.


Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhesion.

Boca M, D'Amato L, Distefano G, Polishchuk RS, Germino GG, Boletta A.

Mol Biol Cell. 2007 Oct;18(10):4050-61. Epub 2007 Aug 1.


Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.

Hum Mol Genet. 2007 Aug 15;16(16):1940-50. Epub 2007 Jun 16.


Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):160-7. Epub 2007 Jun 18.


The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.

Basavanna U, Weber KM, Hu Q, Ziegelstein RC, Germino GG, Sutters M.

Biochem Biophys Res Commun. 2007 Jul 27;359(2):367-72. Epub 2007 May 25.


Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.

Wei W, Hackmann K, Xu H, Germino G, Qian F.

J Biol Chem. 2007 Jul 27;282(30):21729-37. Epub 2007 May 24.


Polyductin undergoes notch-like processing and regulated release from primary cilia.

Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG.

Hum Mol Genet. 2007 Apr 15;16(8):942-56.


The attrition of young physician-scientists: problems and potential solutions.

Donowitz M, Germino G, Cominelli F, Anderson JM.

Gastroenterology. 2007 Feb;132(2):477-80.


Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

Stayner C, Iglesias DM, Goodyer PR, Ellis L, Germino G, Zhou J, Eccles MR.

Hum Mol Genet. 2006 Dec 15;15(24):3520-8. Epub 2006 Nov 2. Erratum in: Hum Mol Genet. 2009 Apr 15;18(8):1543.


A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression.

Ikeda M, Fong P, Cheng J, Boletta A, Qian F, Zhang XM, Cai H, Germino GG, Guggino WB.

Cell Physiol Biochem. 2006;18(1-3):9-20. Epub 2006 Aug 14.


Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA.

J Pediatr. 2006 Aug;149(2):159-64. No abstract available.


The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.

Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, Walz G, Piontek KB, Germino GG, Weimbs T.

Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5466-71. Epub 2006 Mar 27.

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