Select Publications

• Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2024 Mar 19; 2024 Mar 11. PMID: 38466853.
• Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.Youngblood MW, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo JD, Miyagishima DF, Barak T, Nishimura S, Harmancı AS, Clark VE, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir MN, Özduman K, Kilic T, Knight JR, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger AB, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Nat Commun. 2023 Oct 7; 2023 Oct 7. PMID: 37805627.
• Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors.Dell'Amico C, Angulo Salavarria MM, Takeo Y, Saotome I, Dell'Anno MT, Galimberti M, Pellegrino E, Cattaneo E, Louvi A, Onorati M. Elife. 2023 Jun 5; 2023 Jun 5. PMID: 37272619.
• Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2023 Apr 18; 2023 Apr 12. PMID: 37043537.
• Altered Expression of Several Molecular Mediators of Cerebrospinal Fluid Production in Hyp Mice.Kaplan J, Tommasini S, Yao GQ, Zhu M, Nishimura S, Ghazarian S, Louvi A, Insogna K. J Endocr Soc. 2023 Feb 9; 2023 Feb 6. PMID: 36819458.
• Interferon-γ resistance and immune evasion in glioma develop via Notch-regulated co-evolution of malignant and immune cells.Parmigiani E, Ivanek R, Rolando C, Hafen K, Turchinovich G, Lehmann FM, Gerber A, Brkic S, Frank S, Meyer SC, Wakimoto H, Günel M, Louvi A, Mariani L, Finke D, Holländer G, Hutter G, Tussiwand R, Taylor V, Giachino C. Dev Cell. 2022 Aug 8; 2022 Jul 7. PMID: 35803280.
• Cellular Origin of Sporadic CCMs. Reply.Peyre M, Louvi A, Kalamarides M. N Engl J Med. 2022 Mar 31. PMID: 35353973.
• Modeling uniquely human gene regulatory function via targeted humanization of the mouse genome.Dutrow EV, Emera D, Yim K, Uebbing S, Kocher AA, Krenzer M, Nottoli T, Burkhardt DB, Krishnaswamy S, Louvi A, Noonan JP. Nat Commun. 2022 Jan 13; 2022 Jan 13. PMID: 35027568.
• PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. Nat Med. 2021 Dec; 2021 Dec 9. PMID: 34887573.
• Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clémenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M. N Engl J Med. 2021 Sep 9. PMID: 34496175.
• Neuroinvasion of SARS-CoV-2 in human and mouse brain.Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. J Exp Med. 2021 Mar 1. PMID: 33433624.
• Neuroinvasion of SARS-CoV-2 in human and mouse brain.Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. bioRxiv. 2020 Sep 8; 2020 Sep 8. PMID: 32935108.
• The Notch pathway in CNS homeostasis and neurodegeneration.Ho DM, Artavanis-Tsakonas S, Louvi A. Wiley Interdiscip Rev Dev Biol. 2020 Jan; 2019 Sep 10. PMID: 31502763.
• Id4 Downstream of Notch2 Maintains Neural Stem Cell Quiescence in the Adult Hippocampus.Zhang R, Boareto M, Engler A, Louvi A, Giachino C, Iber D, Taylor V. Cell Rep. 2019 Aug 6. PMID: 31390563.
• Cerebrovascular disorders associated with genetic lesions.Karschnia P, Nishimura S, Louvi A. Cell Mol Life Sci. 2019 Jan; 2018 Oct 16. PMID: 30327838.
• Notch2 Signaling Maintains NSC Quiescence in the Murine Ventricular-Subventricular Zone.Engler A, Rolando C, Giachino C, Saotome I, Erni A, Brien C, Zhang R, Zimber-Strobl U, Radtke F, Artavanis-Tsakonas S, Louvi A, Taylor V. Cell Rep. 2018 Jan 23; 2018 Jan 28. PMID: 29386140.
• Notch1 and Notch2 receptors regulate mouse and human gastric antral epithelial cell homoeostasis.Gifford GB, Demitrack ES, Keeley TM, Tam A, La Cunza N, Dedhia PH, Spence JR, Simeone DM, Saotome I, Louvi A, Siebel CW, Samuelson LC. Gut. 2017 Jun; 2016 Mar 1. PMID: 26933171.
• Combined HMG-COA reductase and prenylation inhibition in treatment of CCM.Nishimura S, Mishra-Gorur K, Park J, Surovtseva YV, Sebti SM, Levchenko A, Louvi A, Gunel M. Proc Natl Acad Sci U S A. 2017 May 23; 2017 May 12. PMID: 28500274.
• Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A. Sci Rep. 2017 Mar 8; 2017 Mar 8. PMID: 28272472.
• B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models.Shi C, Shenkar R, Zeineddine HA, Girard R, Fam MD, Austin C, Moore T, Lightle R, Zhang L, Wu M, Cao Y, Gunel M, Louvi A, Rorrer A, Gallione C, Marchuk DA, Awad IA. J Neuroimmune Pharmacol. 2016 Jun; 2016 Apr 16. PMID: 27086141.
• Integrated genomic characterization of IDH1-mutant glioma malignant progression.Bai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M. Nat Genet. 2016 Jan; 2015 Nov 30. PMID: 26618343.
• Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex.Fisher OS, Deng H, Liu D, Zhang Y, Wei R, Deng Y, Zhang F, Louvi A, Turk BE, Boggon TJ, Su B. Nat Commun. 2015 Aug 3; 2015 Aug 3. PMID: 26235885.
• Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.Nishimura S, Bilgüvar K, Ishigame K, Sestan N, Günel M, Louvi A. PLoS One. 2015; 2015 Apr 15. PMID: 25875176.
• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Neuron. 2015 Jan 7; 2015 Jan 7. PMID: 29654772.
• Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Neuron. 2014 Dec 17. PMID: 25521378.
• Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration.Louvi A, Nishimura S, Günel M. Development. 2014 Mar. PMID: 24595293.
• Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Proc Natl Acad Sci U S A. 2013 Feb 26; 2013 Jan 28. PMID: 23359680.
• Notch and disease: a growing field.Louvi A, Artavanis-Tsakonas S. Semin Cell Dev Biol. 2012 Jun; 2012 Feb 20. PMID: 22373641.
• WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters.Rinehart J, Vázquez N, Kahle KT, Hodson CA, Ring AM, Gulcicek EE, Louvi A, Bobadilla NA, Gamba G, Lifton RP. J Biol Chem. 2011 Aug 26; 2011 Jul 6. PMID: 21733846.
• Recessive LAMC3 mutations cause malformations of occipital cortical development.Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Cağlayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M. Nat Genet. 2011 Jun; 2011 May 15. PMID: 21572413.
• Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Arboleda-Velasquez JF, Manent J, Lee JH, Tikka S, Ospina C, Vanderburg CR, Frosch MP, Rodríguez-Falcón M, Villen J, Gygi S, Lopera F, Kalimo H, Moskowitz MA, Ayata C, Louvi A, Artavanis-Tsakonas S. Proc Natl Acad Sci U S A. 2011 May 24; 2011 May 9. PMID: 21555590.
• Cilia in the CNS: the quiet organelle claims center stage.Louvi A, Grove EA. Neuron. 2011 Mar 24. PMID: 21435552.
• Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology.Louvi A, Chen L, Two AM, Zhang H, Min W, Günel M. Proc Natl Acad Sci U S A. 2011 Mar 1; 2011 Feb 14. PMID: 21321212.
• Notch lineages and activity in intestinal stem cells determined by a new set of knock-in mice.Fre S, Hannezo E, Sale S, Huyghe M, Lafkas D, Kissel H, Louvi A, Greve J, Louvard D, Artavanis-Tsakonas S. PLoS One. 2011; 2011 Oct 3. PMID: 21991352.
• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. Nature. 2010 Sep 9; 2010 Aug 22. PMID: 20729831.
• L-histidine decarboxylase and Tourette's syndrome.Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. N Engl J Med. 2010 May 20; 2010 May 5. PMID: 20445167.
• Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3.Chen L, Tanriover G, Yano H, Friedlander R, Louvi A, Gunel M. Stroke. 2009 Apr; 2009 Feb 26. PMID: 19246713.
• Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome.Stillman AA, Krsnik Z, Sun J, Rasin MR, State MW, Sestan N, Louvi A. J Comp Neurol. 2009 Mar 1. PMID: 19105198.
• Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.Shibazaki S, Yu Z, Nishio S, Tian X, Thomson RB, Mitobe M, Louvi A, Velazquez H, Ishibe S, Cantley LG, Igarashi P, Somlo S. Hum Mol Genet. 2008 Jun 1; 2008 Feb 7. PMID: 18263604.
• PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit.Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. Neurosurgery. 2008 Apr. PMID: 18496199.
• Linking Notch signaling to ischemic stroke.Arboleda-Velasquez JF, Zhou Z, Shin HK, Louvi A, Kim HH, Savitz SI, Liao JK, Salomone S, Ayata C, Moskowitz MA, Artavanis-Tsakonas S. Proc Natl Acad Sci U S A. 2008 Mar 25; 2008 Mar 17. PMID: 18347334.
• Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Am J Hum Genet. 2008 Jan. PMID: 18179895.
• The derivatives of the Wnt3a lineage in the central nervous system.Louvi A, Yoshida M, Grove EA. J Comp Neurol. 2007 Oct 10. PMID: 17701978.
• Notch signalling in vertebrate neural development.Louvi A, Artavanis-Tsakonas S. Nat Rev Neurosci. 2006 Feb. PMID: 16429119.
• CCM2 expression parallels that of CCM1.Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. Stroke. 2006 Feb; 2005 Dec 22. PMID: 16373645.
• CADASIL: a critical look at a Notch disease.Louvi A, Arboleda-Velasquez JF, Artavanis-Tsakonas S. Dev Neurosci. 2006. PMID: 16508299.
• WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability.Kahle KT, Rinehart J, de Los Heros P, Louvi A, Meade P, Vazquez N, Hebert SC, Gamba G, Gimenez I, Lifton RP. Proc Natl Acad Sci U S A. 2005 Nov 15; 2005 Nov 7. PMID: 16275911.
• Sequence variants in SLITRK1 are associated with Tourette's syndrome.Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Science. 2005 Oct 14. PMID: 16224024.
• Regionalization of the isthmic and cerebellar primordia.Narboux-Nême N, Louvi A, Alexandre P, Wassef M. Prog Brain Res. 2005. PMID: 15856550.
• Presenilin 1 in migration and morphogenesis in the central nervous system.Louvi A, Sisodia SS, Grove EA. Development. 2004 Jul; 2004 May 26. PMID: 15163631.
• The isthmic neuroepithelium is essential for cerebellar midline fusion.Louvi A, Alexandre P, Métin C, Wurst W, Wassef M. Development. 2003 Nov; 2003 Sep 24. PMID: 14507778.
• Conserved expression of Hoxa1 in neurons at the ventral forebrain/midbrain boundary of vertebrates.McClintock JM, Jozefowicz C, Assimacopoulos S, Grove EA, Louvi A, Prince VE. Dev Genes Evol. 2003 Aug; 2003 May 14. PMID: 12748854.
• Ectopic engrailed 1 expression in the dorsal midline causes cell death, abnormal differentiation of circumventricular organs and errors in axonal pathfinding.Louvi A, Wassef M. Development. 2000 Sep. PMID: 10952903.
• Growth-promoting interaction of IGF-II with the insulin receptor during mouse embryonic development.Louvi A, Accili D, Efstratiadis A. Dev Biol. 1997 Sep 1. PMID: 9281335.
• Insulin-like growth factor II stimulates cell proliferation through the insulin receptor.Morrione A, Valentinis B, Xu SQ, Yumet G, Louvi A, Efstratiadis A, Baserga R. Proc Natl Acad Sci U S A. 1997 Apr 15. PMID: 9108054.
• Rescue of the T-associated maternal effect in mice carrying null mutations in Igf-2 and Igf2r, two reciprocally imprinted genes.Filson AJ, Louvi A, Efstratiadis A, Robertson EJ. Development. 1993 Jul. PMID: 8076514.
• A cDNA clone encoding the ADP/ATP translocase of Drosophila melanogaster shows a high degree of similarity with the mammalian ADP/ATP translocases.Louvi A, Tsitilou SG. J Mol Evol. 1992 Jul. PMID: 1387687.