Gregory G. Germino, M.D.

Deputy Director: Office of the Director
Acting Chief: Kidney Diseases Branch
Section Chief: Polycystic Kidney Disease Section, Kidney Diseases Branch
Section Chief: Clinical Nephrology Section, Kidney Diseases Branch

Scientific Focus Areas: Cell Biology, Genetics and Genomics, Molecular Biology and Biochemistry, Systems Biology

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Publications

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

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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
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
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
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
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
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
Linking cilia to Wnts.: Germino GG.; Nat Genet (2005 May) 37:455-7. Abstract/Full Text
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.: Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG.; Am J Hum Genet (2002 May) 70:1305-17. Abstract/Full Text
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.: Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG.; Cell (2002 Apr 19) 109:157-68. Abstract/Full Text
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.: Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG.; Nature (2000 Dec 21-28) 408:990-4. Abstract/Full Text
Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells.: Boletta A, Qian F, Onuchic LF, Bhunia AK, Phakdeekitcharoen B, Hanaoka K, Guggino W, Monaco L, Germino GG.; Mol Cell (2000 Nov) 6:1267-73. Abstract/Full Text
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.: Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y.; Nat Genet (2000 Jun) 25:143-4. Abstract/Full Text
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.: Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG.; Mol Cell (1998 Aug) 2:247-51. Abstract/Full Text
PKD1 interacts with PKD2 through a probable coiled-coil domain.: Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG.; Nat Genet (1997 Jun) 16:179-83. Abstract/Full Text
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.: Qian F, Watnick TJ, Onuchic LF, Germino GG.; Cell (1996 Dec 13) 87:979-87. Abstract/Full Text

Last Reviewed October 2024