FKNE > Key Publications: Gaia Novarino

Gaia Novarino

Key Publications

1: Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20. PubMed PMID: 25138099; PubMed Central PMCID: PMC4795044.

2: Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 2014 Jun 18;82(6):1255-62. doi: 10.1016/j.neuron.2014.04.036. PubMed PMID: 24945770; PubMed Central PMCID: PMC4086250.

3:  Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-11. doi: 10.1126/science.1247363. PubMed PMID: 24482476; PubMed Central PMCID: PMC4157572.

4:  Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. PubMed PMID: 22956686; PubMed Central PMCID: PMC3704165.

5: Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544. PubMed PMID: 22700954; PubMed Central PMCID: PMC4442637.

6:  Novarino G, Weinert S, Rickheit G, Jentsch TJ. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 2010 Jun 11;328(5984):1398-401. doi: 10.1126/science.1188070. Epub 2010 Apr 29. PubMed PMID: 20430975.

7: Rickheit G, Wartosch L, Schaffer S, Stobrawa SM, Novarino G, Weinert S, Jentsch TJ. Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. J Biol Chem. 2010 Jun 4;285(23):17595-603. doi: 10.1074/jbc.M110.115600. Epub 2010 Mar 29. PubMed PMID: 20351103; PubMed Central PMCID: PMC2878524.

8: Schwartz JW, Novarino G, Piston DW, DeFelice LJ. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. J Biol Chem. 2005 May 13;280(19):19177-84. Epub 2005 Mar 9. PubMed PMID: 15757904.

9:  Novarino G, Fabrizi C, Tonini R, Denti MA, Malchiodi-Albedi F, Lauro GM, Sacchetti B, Paradisi S, Ferroni A, Curmi PM, Breit SN, Mazzanti M. Involvement of the intracellular ion channel CLIC1 in microglia-mediated beta-amyloid-induced neurotoxicity. J Neurosci. 2004 Jun 9;24(23):5322-30. PubMed PMID: 15190104.

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