Select Publications

1.

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;10 (4) :e0124295. Epub 2015 Apr 15. PMID: 25875176

2.

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;84 (6) :1226-39. PMID: 25521378

3.

Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration.

Louvi A, Nishimura S, Günel M.

Development. 2014 Mar;141 (6) :1404-15. PMID: 24595293

4.

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;110 (9) :3489-94. Epub 2013 Jan 28. PMID: 23359680

5.

Notch and disease: a growing field.

Louvi A, Artavanis-Tsakonas S.

Semin Cell Dev Biol. 2012 Jun;23 (4) :473-80. Epub 2012 Feb 20. PMID: 22373641

6.

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;286 (34) :30171-80. Epub 2011 Jul 6. PMID: 21733846

7.

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;43 (6) :590-4. Epub 2011 May 15. PMID: 21572413

8.

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;108 (21) :E128-35. Epub 2011 May 9. PMID: 21555590

9.

Cilia in the CNS: the quiet organelle claims center stage.

Louvi A, Grove EA.

Neuron. 2011 Mar 24;69 (6) :1046-60. PMID: 21435552

10.

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;108 (9) :3737-42. Epub 2011 Feb 14. PMID: 21321212

11.

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;6 (10) :e25785. Epub 2011 Oct 3. PMID: 21991352

12.

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;467 (7312) :207-10. Epub 2010 Aug 22. PMID: 20729831

13.

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;362 (20) :1901-8. Epub 2010 May 5. PMID: 20445167

14.

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;40 (4) :1474-81. Epub 2009 Feb 26. PMID: 19246713

15.

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;513 (1) :21-37. PMID: 19105198

16.

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;17 (11) :1505-16. Epub 2008 Feb 7. PMID: 18263604

17.

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;62 (4) :930-8; discussion 938. PMID: 18496199

18.

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;105 (12) :4856-61. Epub 2008 Mar 17. PMID: 18347334

19.

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;82 (1) :165-73. PMID: 18179895

20.

The derivatives of the Wnt3a lineage in the central nervous system.

Louvi A, Yoshida M, Grove EA.

J Comp Neurol. 2007 Oct 10;504 (5) :550-69. PMID: 17701978

21.

Notch signalling in vertebrate neural development.

Louvi A, Artavanis-Tsakonas S.

Nat Rev Neurosci. 2006 Feb;7 (2) :93-102. PMID: 16429119

22.

CCM2 expression parallels that of CCM1.

Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M.

Stroke. 2006 Feb;37 (2) :518-23. Epub 2005 Dec 22. PMID: 16373645

23.

CADASIL: a critical look at a Notch disease.

Louvi A, Arboleda-Velasquez JF, Artavanis-Tsakonas S.

Dev Neurosci. 2006;28 (1-2) :5-12. PMID: 16508299

24.

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;102 (46) :16783-8. Epub 2005 Nov 7. PMID: 16275911

25.

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;310 (5746) :317-20. PMID: 16224024

26.

Regionalization of the isthmic and cerebellar primordia.

Narboux-Nême N, Louvi A, Alexandre P, Wassef M.

Prog Brain Res. 2005;148 :29-36. PMID: 15856550

27.

Presenilin 1 in migration and morphogenesis in the central nervous system.

Louvi A, Sisodia SS, Grove EA.

Development. 2004 Jul;131 (13) :3093-105. Epub 2004 May 26. PMID: 15163631

28.

The isthmic neuroepithelium is essential for cerebellar midline fusion.

Louvi A, Alexandre P, Métin C, Wurst W, Wassef M.

Development. 2003 Nov;130 (22) :5319-30. Epub 2003 Sep 24. PMID: 14507778

29.

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;213 (8) :399-406. Epub 2003 May 14. PMID: 12748854

31.

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;189 (1) :33-48. PMID: 9281335

32.

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;94 (8) :3777-82. PMID: 9108054

33.

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;118 (3) :731-6. PMID: 8076514