Publications

A selection of recent and significant publications can be viewed below.

Select Publications

The pathobiology of polycystic kidney disease from a metabolic viewpoint.

Menezes LF, Germino GG.

Nat Rev Nephrol (2019 Dec) 15:735-749. Abstract/Full Text

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) 8:2743. Abstract/Full Text

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 Mar) 5:183-92. Abstract/Full Text

A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts.

Ishimoto Y, Menezes LF, Zhou F, Yoshida T, Komori T, Qiu J, Young MF, Lu H, Potapova S, Outeda P, Watnick T, Germino GG.

Kidney Int (2023 Sep) 104:611-616. Abstract/Full Text

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:e1003053. Abstract/Full Text

Additional Publications

In vivo Polycystin-1 interactome using a novel Pkd1 knock-in mouse model.

Lin CC, Menezes LF, Qiu J, Pearson E, Zhou F, Ishimoto Y, Anderson DE, Germino GG.

PLoS One (2023) 18:e0289778. Abstract/Full Text

Mechanisms of Cyst Development in Polycystic Kidney Disease.

Qiu J, Germino GG, Menezes LF.

Adv Kidney Dis Health (2023 May) 30:209-219. Abstract/Full Text

Pkd1 Mutation Has No Apparent Effects on Peroxisome Structure or Lipid Metabolism.

Terabayashi T, Menezes LF, Zhou F, Cai H, Walter PJ, Garraffo HM, Germino GG.

Kidney360 (2021 Oct 28) 2:1576-1591. Abstract/Full Text

Pathway identification through transcriptome analysis.

Terabayashi T, Germino GG, Menezes LF.

Cell Signal (2020 Oct) 74:109701. Abstract/Full Text

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) 27:115-120. Abstract/Full Text

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) 92:1130-1144. Abstract/Full Text

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) 7:7733. Abstract/Full Text

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) 26:2081-95. Abstract/Full Text

Systems biology of polycystic kidney disease: a critical review.

Menezes LF, Germino GG.

Wiley Interdiscip Rev Syst Biol Med (2015 Jan-Feb) 7:39-52. Abstract/Full Text

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. Abstract/Full Text

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) 92:1045-56. Abstract/Full Text

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) 25:2919-33. Abstract/Full Text

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) 42:301-7. Abstract/Full Text

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) 7:634-44. Abstract/Full Text

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) 444:473-9. Abstract/Full Text

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) 25:81-91. Abstract/Full Text

Murine Models of Polycystic Kidney Disease.

Menezes LF, Germino GG.

Drug Discov Today Dis Mech (2013 Dec 1) 10:e153-e158. Abstract/Full Text

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

Watnick TJ, Germino GG.

Nat Rev Nephrol (2013 May) 9:249-50. Abstract/Full Text

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) 21:5456-71. Abstract/Full Text

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) 425:212-8. Abstract/Full Text

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) 81:412-7. Abstract/Full Text

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) 31:12241-50. Abstract/Full Text

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) 80:146-53. Abstract/Full Text

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) 108:9833-8. Abstract/Full Text

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) 240:1493-501. Abstract/Full Text

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. Abstract/Full Text

mTOR inhibitors in polycystic kidney disease.

Watnick T, Germino GG.

N Engl J Med (2010 Aug 26) 363:879-81. Abstract/Full Text

Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.

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

J Am Soc Nephrol (2010 Mar) 21:489-97. Abstract/Full Text

Molecular advances in autosomal dominant polycystic kidney disease.

Gallagher AR, Germino GG, Somlo S.

Adv Chronic Kidney Dis (2010 Mar) 17:118-30. Abstract/Full Text

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) 20:2389-402. Abstract/Full Text

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) 29:2359-71. Abstract/Full Text

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) 75:626-33. Abstract/Full Text

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) 30:468-73. Abstract/Full Text

Polycystic kidney disease, cilia, and planar polarity.

Menezes LF, Germino GG.

Methods Cell Biol (2009) 94:273-97. Abstract/Full Text

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.

Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S.

Am J Pathol (2008 Feb) 172:417-29. Abstract/Full Text

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) 13:1490-5. Abstract/Full Text

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) 104:18688-93. Abstract/Full Text

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) 16:1940-50. Abstract/Full Text

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) 16:942-56. Abstract/Full Text

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.

Menezes LF, Onuchic LF.

Braz J Med Biol Res (2006 Dec) 39:1537-48. Abstract/Full Text

Immunohistochemical and in situ hybridization studies of the liver and kidney in human leptospirosis.

De Brito T, Menezes LF, Lima DM, Lourenço S, Silva AM, Alves VA.

Virchows Arch (2006 May) 448:576-83. Abstract/Full Text

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) 103:5466-71. Abstract/Full Text

N-acetylcysteine attenuates the progression of chronic renal failure.

Shimizu MH, Coimbra TM, de Araujo M, Menezes LF, Seguro AC.

Kidney Int (2005 Nov) 68:2208-17. Abstract/Full Text

Linking cilia to Wnts.

Germino GG.

Nat Genet (2005 May) 37:455-7. Abstract/Full Text

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.

Menezes LF, Cai Y, Nagasawa Y, Silva AM, Watkins ML, Da Silva AM, Somlo S, Guay-Woodford LM, Germino GG, Onuchic LF.

Kidney Int (2004 Oct) 66:1345-55. Abstract/Full Text