36 Publications

Mark all

[36]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert S, Gimber N, Deuschel D, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal.:e103358. doi:10.15252/embj.2019103358
View | Files available | DOI
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.
View | Files available | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. doi:10.1016/j.tins.2020.05.004
View | DOI | Download (ext.)
 
[33]
2019 | Journal Article | IST-REx-ID: 105
Marsh A, Novarino G, Lockhart P, Leventer R. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 2019;27:161-166. doi:10.1038/s41431-018-0231-2
View | DOI
 
[32]
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter C, Novarino G. Supplementary Data for the Research Paper “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” IST Austria; 2019. doi:10.15479/AT:ISTA:6074
View | Files available | DOI
 
[31]
2019 | Journal Article | IST-REx-ID: 6088
Traxl A, Mairinger S, Filip T, et al. Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Molecular Pharmaceutics. 2019;16(3):1282-1293. doi:10.1021/acs.molpharmaceut.8b01217
View | DOI | PubMed | Europe PMC
 
[30]
2019 | Journal Article | IST-REx-ID: 6896
Oliveira B, Yahya AÇ, Novarino G. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 2019;1724. doi:10.1016/j.brainres.2019.146458
View | DOI | PubMed | Europe PMC
 
[29]
2019 | Journal Article | IST-REx-ID: 7414
Knaus L, Tarlungeanu D-C, Novarino G. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 2019;29(Supplement 6):S11. doi:10.1016/j.euroneuro.2019.09.039
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 7415
Morandell J, Nicolas A, Schwarz LA, Novarino G. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 2019;29(Supplement 6):S11-S12. doi:10.1016/j.euroneuro.2019.09.040
View | DOI
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Novarino G. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 2018;10(423). doi:10.1126/scitranslmed.aar7514
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 546
Sacco R, Cacci E, Novarino G. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 2018;48(2):131-138. doi:10.1016/j.conb.2017.12.005
View | DOI
 
[25]
2018 | Journal Article | IST-REx-ID: 5888 | OA
Tarlungeanu D-C, Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 2018;50(8). doi:10.1038/s12276-018-0129-7
View | Files available | DOI | PubMed | Europe PMC
 
[24]
2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu E, Arecco N, Morandell J, et al. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. 2018;21(12):1717-1727. doi:10.1038/s41593-018-0266-2
View | Files available | DOI
 
[23]
2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia I, Novarino G, Johansen A, et al. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 2018;55(1):48-54. doi:10.1136/jmedgenet-2017-104627
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[22]
2017 | Journal Article | IST-REx-ID: 1228 | OA
Sauerzopf U, Sacco R, Novarino G, et al. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 2017;45(1):45-57. doi:10.1111/ejn.13418
View | Files available | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino G. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 2017;9(381). doi:10.1126/scitranslmed.aam9867
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 689
Novarino G. Rett syndrome modeling goes simian. Science Translational Medicine. 2017;9(393). doi:10.1126/scitranslmed.aan8196
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino G. More excitation for Rett syndrome. Science Translational Medicine. 2017;9(405). doi:10.1126/scitranslmed.aao4218
View | DOI
 
[18]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. Extracerebral dysfunction in animal models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:159-187. doi:10.1007/978-3-319-52498-6_9
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder J, Deliu E, Novarino G, Schmeisser M. Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:189-211. doi:10.1007/978-3-319-52498-6_10
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 667
Novarino G. The antisocial side of antibiotics. Science Translational Medicine. 2017;9(387). doi:10.1126/scitranslmed.aan2786
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 702
Novarino G. The riddle of CHD8 haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 2017;9(399):eaao0972. doi:10.1126/scitranslmed.aao0972
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino G. The science of love in ASD and ADHD. Science Translational Medicine. 2017;9(411). doi:10.1126/scitranslmed.aap8168
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494. doi:10.1016/j.cell.2016.11.013
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789 | OA
Kuechler A, Zink A, Wieland T, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Baek S, Kerjan G, Bielas S, et al. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation. Neuron. 2014;82(6):1255-1262. doi:10.1016/j.neuron.2014.04.036
View | DOI
 
[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511. doi:10.1126/science.1247363
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino G, Baek S, Gleeson J. The sacred disease: The puzzling genetics of epileptic disorders. Neuron. 2013;80(1):9-11. doi:10.1016/j.neuron.2013.09.019
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar T, Silhavy J, Udpa N, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 2012;4(138). doi:10.1126/scitranslmed.3003544
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino G, El Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012;338(6105):394-397. doi:10.1126/science.1224631
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino G, Akizu N, Gleeson J. Modeling human disease in humans: The ciliopathies. Cell. 2011;147(1):70-79. doi:10.1016/j.cell.2011.09.014
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber T, Novarino G, Jentsch T. The CLC family of chloride channels and transporters. In: Physiology and Pathology of Chloride Transporters and Channels in the Nervous System. Elsevier; 2010:209-231. doi:10.1016/B978-0-12-374373-2.00012-1
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2310
Novarino G, Weinert S, Rickheit G, Jentsch T. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 2010;328(5984):1398-1401. doi:10.1126/science.1188070
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit G, Wartosch L, Schaffer S, et al. Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. Journal of Biological Chemistry. 2010;285(23):17595-17603. doi:10.1074/jbc.M110.115600
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Schwartz J, Novarino G, Piston D, Defelice L. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. Journal of Biological Chemistry. 2005;280(19):19177-19184. doi:10.1074/jbc.M412923200
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino G, Fabrizi C, Tonini R, et al. Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity. Journal of Neuroscience. 2004;24(23):5322-5330. doi:10.1523/JNEUROSCI.1170-04.2004
View | DOI
 

Search

Filter Publications

36 Publications

Mark all

[36]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert S, Gimber N, Deuschel D, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal.:e103358. doi:10.15252/embj.2019103358
View | Files available | DOI
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.
View | Files available | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. doi:10.1016/j.tins.2020.05.004
View | DOI | Download (ext.)
 
[33]
2019 | Journal Article | IST-REx-ID: 105
Marsh A, Novarino G, Lockhart P, Leventer R. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 2019;27:161-166. doi:10.1038/s41431-018-0231-2
View | DOI
 
[32]
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter C, Novarino G. Supplementary Data for the Research Paper “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” IST Austria; 2019. doi:10.15479/AT:ISTA:6074
View | Files available | DOI
 
[31]
2019 | Journal Article | IST-REx-ID: 6088
Traxl A, Mairinger S, Filip T, et al. Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Molecular Pharmaceutics. 2019;16(3):1282-1293. doi:10.1021/acs.molpharmaceut.8b01217
View | DOI | PubMed | Europe PMC
 
[30]
2019 | Journal Article | IST-REx-ID: 6896
Oliveira B, Yahya AÇ, Novarino G. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 2019;1724. doi:10.1016/j.brainres.2019.146458
View | DOI | PubMed | Europe PMC
 
[29]
2019 | Journal Article | IST-REx-ID: 7414
Knaus L, Tarlungeanu D-C, Novarino G. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 2019;29(Supplement 6):S11. doi:10.1016/j.euroneuro.2019.09.039
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 7415
Morandell J, Nicolas A, Schwarz LA, Novarino G. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 2019;29(Supplement 6):S11-S12. doi:10.1016/j.euroneuro.2019.09.040
View | DOI
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Novarino G. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 2018;10(423). doi:10.1126/scitranslmed.aar7514
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 546
Sacco R, Cacci E, Novarino G. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 2018;48(2):131-138. doi:10.1016/j.conb.2017.12.005
View | DOI
 
[25]
2018 | Journal Article | IST-REx-ID: 5888 | OA
Tarlungeanu D-C, Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 2018;50(8). doi:10.1038/s12276-018-0129-7
View | Files available | DOI | PubMed | Europe PMC
 
[24]
2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu E, Arecco N, Morandell J, et al. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. 2018;21(12):1717-1727. doi:10.1038/s41593-018-0266-2
View | Files available | DOI
 
[23]
2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia I, Novarino G, Johansen A, et al. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 2018;55(1):48-54. doi:10.1136/jmedgenet-2017-104627
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[22]
2017 | Journal Article | IST-REx-ID: 1228 | OA
Sauerzopf U, Sacco R, Novarino G, et al. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 2017;45(1):45-57. doi:10.1111/ejn.13418
View | Files available | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino G. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 2017;9(381). doi:10.1126/scitranslmed.aam9867
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 689
Novarino G. Rett syndrome modeling goes simian. Science Translational Medicine. 2017;9(393). doi:10.1126/scitranslmed.aan8196
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino G. More excitation for Rett syndrome. Science Translational Medicine. 2017;9(405). doi:10.1126/scitranslmed.aao4218
View | DOI
 
[18]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. Extracerebral dysfunction in animal models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:159-187. doi:10.1007/978-3-319-52498-6_9
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder J, Deliu E, Novarino G, Schmeisser M. Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:189-211. doi:10.1007/978-3-319-52498-6_10
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 667
Novarino G. The antisocial side of antibiotics. Science Translational Medicine. 2017;9(387). doi:10.1126/scitranslmed.aan2786
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 702
Novarino G. The riddle of CHD8 haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 2017;9(399):eaao0972. doi:10.1126/scitranslmed.aao0972
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino G. The science of love in ASD and ADHD. Science Translational Medicine. 2017;9(411). doi:10.1126/scitranslmed.aap8168
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494. doi:10.1016/j.cell.2016.11.013
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789 | OA
Kuechler A, Zink A, Wieland T, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Baek S, Kerjan G, Bielas S, et al. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation. Neuron. 2014;82(6):1255-1262. doi:10.1016/j.neuron.2014.04.036
View | DOI
 
[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511. doi:10.1126/science.1247363
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino G, Baek S, Gleeson J. The sacred disease: The puzzling genetics of epileptic disorders. Neuron. 2013;80(1):9-11. doi:10.1016/j.neuron.2013.09.019
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar T, Silhavy J, Udpa N, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 2012;4(138). doi:10.1126/scitranslmed.3003544
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino G, El Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012;338(6105):394-397. doi:10.1126/science.1224631
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino G, Akizu N, Gleeson J. Modeling human disease in humans: The ciliopathies. Cell. 2011;147(1):70-79. doi:10.1016/j.cell.2011.09.014
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber T, Novarino G, Jentsch T. The CLC family of chloride channels and transporters. In: Physiology and Pathology of Chloride Transporters and Channels in the Nervous System. Elsevier; 2010:209-231. doi:10.1016/B978-0-12-374373-2.00012-1
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2310
Novarino G, Weinert S, Rickheit G, Jentsch T. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 2010;328(5984):1398-1401. doi:10.1126/science.1188070
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit G, Wartosch L, Schaffer S, et al. Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. Journal of Biological Chemistry. 2010;285(23):17595-17603. doi:10.1074/jbc.M110.115600
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Schwartz J, Novarino G, Piston D, Defelice L. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. Journal of Biological Chemistry. 2005;280(19):19177-19184. doi:10.1074/jbc.M412923200
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino G, Fabrizi C, Tonini R, et al. Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity. Journal of Neuroscience. 2004;24(23):5322-5330. doi:10.1523/JNEUROSCI.1170-04.2004
View | DOI
 

Search

Filter Publications