Timothy Nottoli, PhD
Senior Research Scientist in Comparative Medicine; Co-director, Yale Genome Editing Center
Research & Publications
Biography
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Locations
Coauthors
Selected Publications
- CpG island turnover events predict evolutionary changes in enhancer activityKocher A, Dutrow E, Uebbing S, Yim K, Rosales Larios M, Baumgartner M, Nottoli T, Noonan J. CpG island turnover events predict evolutionary changes in enhancer activity. Genome Biology 2024, 25: 156. PMID: 38872220, PMCID: PMC11170920, DOI: 10.1186/s13059-024-03300-z.
- Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformationsZhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.
- Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalitiesStölting G, Dinh H, Volkert M, Hellmig N, Schewe J, Hennicke L, Seidel E, Oberacher H, Zhang J, Lifton R, Urban I, Long M, Rivalan M, Nottoli T, Scholl U. Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities. JCI Insight 2023, 8: e162468. PMID: 37698934, PMCID: PMC10619505, DOI: 10.1172/jci.insight.162468.
- Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID)Ahsan K, dos Reis DC, Barbieri A, Sumigray KD, Nottoli T, Salas PJ, Ameen NA. Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID). Journal Of Clinical Medicine 2022, 11: 4179. PMID: 35887942, PMCID: PMC9319011, DOI: 10.3390/jcm11144179.
- A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in MiceMeas R, Nititham J, Taylor KE, Maher S, Clairmont K, Carufe KEW, Kashgarian M, Nottoli T, Cheong A, Nagel ZD, Gaffney PM, Criswell LA, Sweasy JB. A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice. ACR Open Rheumatology 2022, 4: 760-770. PMID: 35708944, PMCID: PMC9469486, DOI: 10.1002/acr2.11471.
- Serum and Glucocorticoid‐Inducible Kinase 1 (SGK1): An Important Contributor to Diarrhea and Malabsorption in Microvillus Inclusion Disease (MVID)Ahsan K, dos Reis D, Barbieri A, Sumigray K, Nottoli T, Salas P, Ameen N. Serum and Glucocorticoid‐Inducible Kinase 1 (SGK1): An Important Contributor to Diarrhea and Malabsorption in Microvillus Inclusion Disease (MVID). The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5730.
- Modeling uniquely human gene regulatory function via targeted humanization of the mouse genomeDutrow EV, Emera D, Yim K, Uebbing S, Kocher AA, Krenzer M, Nottoli T, Burkhardt DB, Krishnaswamy S, Louvi A, Noonan JP. Modeling uniquely human gene regulatory function via targeted humanization of the mouse genome. Nature Communications 2022, 13: 304. PMID: 35027568, PMCID: PMC8758698, DOI: 10.1038/s41467-021-27899-w.
- Mouse Embryonic Fibroblasts Isolated From Nthl1 D227Y Knockin Mice Exhibit Defective DNA Repair and Increased Genome InstabilityMarsden CG, Das L, Nottoli TP, Kathe SD, Doublié S, Wallace SS, Sweasy JB. Mouse Embryonic Fibroblasts Isolated From Nthl1 D227Y Knockin Mice Exhibit Defective DNA Repair and Increased Genome Instability. DNA Repair 2021, 109: 103247. PMID: 34826736, PMCID: PMC8787541, DOI: 10.1016/j.dnarep.2021.103247.
- Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+)Seidel E, Schewe J, Zhang J, Dinh HA, Forslund SK, Markó L, Hellmig N, Peters J, Muller DN, Lifton RP, Nottoli T, Stölting G, Scholl UI. Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+). Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2014876118. PMID: 33879608, PMCID: PMC8092574, DOI: 10.1073/pnas.2014876118.
- Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosisLi Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.
- Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery DiseaseSrivastava R, Zhang J, Go GW, Narayanan A, Nottoli TP, Mani A. Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery Disease. Cell Reports 2015, 13: 746-759. PMID: 26489464, PMCID: PMC4626307, DOI: 10.1016/j.celrep.2015.09.028.
- Chapter 8 Towards the Molecular Mechanisms of Transgenerational Epigenetic Inheritance Insights from Transgenic MiceKaundal R, Yang Y, Nottoli T, Chi T. Chapter 8 Towards the Molecular Mechanisms of Transgenerational Epigenetic Inheritance Insights from Transgenic Mice. 2014, 75-85. DOI: 10.1016/b978-0-12-405944-3.00008-8.
- Dynamic Migration and Cell‐Cell Interactions of Early Reprogramming Revealed by High‐Resolution Time‐Lapse ImagingMegyola CM, Gao Y, Teixeira AM, Cheng J, Heydari K, Cheng E, Nottoli T, Krause DS, Lu J, Guo S. Dynamic Migration and Cell‐Cell Interactions of Early Reprogramming Revealed by High‐Resolution Time‐Lapse Imaging. Stem Cells 2013, 31: 895-905. PMID: 23335078, PMCID: PMC4309553, DOI: 10.1002/stem.1323.
- Kinesin 5B (KIF5B) Is Required for Progression through Female Meiosis and Proper Chromosomal Segregation in Mitotic CellsKidane D, Sakkas D, Nottoli T, McGrath J, Sweasy JB. Kinesin 5B (KIF5B) Is Required for Progression through Female Meiosis and Proper Chromosomal Segregation in Mitotic Cells. PLOS ONE 2013, 8: e58585. PMID: 23560038, PMCID: PMC3613343, DOI: 10.1371/journal.pone.0058585.
- Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substratesSenejani AG, Dalal S, Liu Y, Nottoli TP, McGrath JM, Clairmont CS, Sweasy JB. Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 6632-6637. PMID: 22493258, PMCID: PMC3340078, DOI: 10.1073/pnas.1200800109.
- Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophageMistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.
- W15 THE ANTIPROLIFERATIVE EFFECT OF LRP6 AND ITS IMPAIRMENT BY R611C MUTATION ARE MEDIATED BY INDEPENDENT INTERMEDIATES OF THE PDGF PATHWAYKeramati A, Singh R, Liu W, Faramarzi S, Nottoli T, Tellides G, Mani A. W15 THE ANTIPROLIFERATIVE EFFECT OF LRP6 AND ITS IMPAIRMENT BY R611C MUTATION ARE MEDIATED BY INDEPENDENT INTERMEDIATES OF THE PDGF PATHWAY. Atherosclerosis Plus 2010, 11: 4. DOI: 10.1016/s1567-5688(10)70016-7.
- Abstract 5464: The Cell Proliferative Effect of LRP6 Mutation is Mediated by Increased PDGF Dependent Cyclin D1 ExpressionKeramati A, Liu W, Nottoli T, Faramarzi S, Tellides G, Mani A. Abstract 5464: The Cell Proliferative Effect of LRP6 Mutation is Mediated by Increased PDGF Dependent Cyclin D1 Expression. Circulation 2009, 120 DOI: 10.1161/circ.120.suppl_18.s1097.
- Chimeric mice reveal clonal development of pancreatic acini, but not isletsSwenson ES, Xanthopoulos J, Nottoli T, McGrath J, Theise ND, Krause DS. Chimeric mice reveal clonal development of pancreatic acini, but not islets. Biochemical And Biophysical Research Communications 2008, 379: 526-531. PMID: 19116141, PMCID: PMC2657659, DOI: 10.1016/j.bbrc.2008.12.104.
- W1746 Embryonic Stem Cell Chimeric Mice Reveal Clonal Development of Pancreatic Acini, But Not IsletsSwenson E, Nottoli T, McGrath J, Theise N, Krause D. W1746 Embryonic Stem Cell Chimeric Mice Reveal Clonal Development of Pancreatic Acini, But Not Islets. Gastroenterology 2008, 134: a-707. DOI: 10.1016/s0016-5085(08)63301-6.
- Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive ResponseLin ZP, Zhu YL, Johnson DR, Rice KP, Nottoli T, Hains BC, McGrath J, Waxman SG, Sartorelli AC. Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive Response. Molecular Pharmacology 2007, 73: 243-251. PMID: 17959714, PMCID: PMC2780335, DOI: 10.1124/mol.107.039594.
- Abolished cocaine reward in mice with a cocaine-insensitive dopamine transporterChen R, Tilley MR, Wei H, Zhou F, Zhou FM, Ching S, Quan N, Stephens RL, Hill ER, Nottoli T, Han DD, Gu HH. Abolished cocaine reward in mice with a cocaine-insensitive dopamine transporter. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 9333-9338. PMID: 16754872, PMCID: PMC1482610, DOI: 10.1073/pnas.0600905103.
- Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nature Genetics 2006, 38: 474-478. PMID: 16532010, DOI: 10.1038/ng1762.
- Positive influence of AP-2α transcription factor on cadherin gene expression and differentiation of the ocular surfaceWest-Mays J, Sivak J, Papagiotas S, Kim J, Nottoli T, Williams T, Fini M. Positive influence of AP-2α transcription factor on cadherin gene expression and differentiation of the ocular surface. Differentiation 2003, 71: 206-216. PMID: 12694203, PMCID: PMC2517417, DOI: 10.1046/j.1432-0436.2003.710302.x.
- Transcription factor AP-2γ is essential in the extra-embryonic lineages for early postimplantation developmentAuman H, Nottoli T, Lakiza O, Winger Q, Donaldson S, Williams T. Transcription factor AP-2γ is essential in the extra-embryonic lineages for early postimplantation development. Development 2002, 129: 3280-3280. DOI: 10.1242/dev.129.13.3280.
- Transcription factor AP-2gamma is essential in the extra-embryonic lineages for early postimplantation development.Auman HJ, Nottoli T, Lakiza O, Winger Q, Donaldson S, Williams T. Transcription factor AP-2gamma is essential in the extra-embryonic lineages for early postimplantation development. Development 2002, 129: 2733-47. PMID: 12015300, DOI: 10.1242/dev.129.11.2733.
- AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens VesicleWest-Mays J, Zhang J, Nottoli T, Hagopian-Donaldson S, Libby D, Strissel K, Williams T. AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle. Developmental Biology 1999, 206: 46-62. PMID: 9918694, DOI: 10.1006/dbio.1998.9132.
- AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric miceNottoli T, Hagopian-Donaldson S, Zhang J, Perkins A, Williams T. AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 1998, 95: 13714-13719. PMID: 9811866, PMCID: PMC24885, DOI: 10.1073/pnas.95.23.13714.
- The HPV16 E5 Protein: Expression, Detection, and Stable Complex Formation with Transmembrane Proteins in COS CellsHwang E, Nottoli T, Dimaio D. The HPV16 E5 Protein: Expression, Detection, and Stable Complex Formation with Transmembrane Proteins in COS Cells. Virology 1995, 211: 227-233. PMID: 7645215, DOI: 10.1006/viro.1995.1395.
- Transcription factor E2 regulates BPV-1 DNA replication in vitro by direct protein-protein interaction.Yang L, Mohr I, Li R, Nottoli T, Sun S, Botchan M. Transcription factor E2 regulates BPV-1 DNA replication in vitro by direct protein-protein interaction. Cold Spring Harbor Symposia On Quantitative Biology 1991, 56: 335-46. PMID: 1668086.
- The E2 transactivator of bovine papillomavirus type 1 is expressed from multiple promoters.Vaillancourt P, Nottoli T, Choe J, Botchan MR. The E2 transactivator of bovine papillomavirus type 1 is expressed from multiple promoters. Journal Of Virology 1990, 64: 3927-37. PMID: 2164604, PMCID: PMC249688.