Adamsen, Dea; Division of Metabolism, Department of Pediatrics, University of Zürich, Zürich 8032, Switzerland
RAMAEKERS, Vincent ; Centre Hospitalier Universitaire de Liège - CHU > Centre of Autism Liège and Division of Pediatric Neurology, University Hospital Liège, Liège 4000, Belgium
Ho, Horace TB; Department of Pharmaceutics, University of Washington, Seattle 98195, WA, USA
BRITSCHGI, Corinne; Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich Zürich 8032, Switzerland
RÜFENACHT, Véronique; Division of Metabolism, Department of Pediatrics, University of Zürich, Zürich 8032, Switzerland
MEILI, David; Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich Zürich 8032, Switzerland
BOBROWSKI, Elise; University Clinics of Child and Adolescent Psychiatry, University of Zürich, Zürich 8050, Switzerland
PHILIPPE, Paule; Centre of Autism Liège and Division of Pediatric Neurology, University Hospital Liège, Liège 4000, Belgium
NAVA, Caroline; Department of Genetics, Cytogenetics and human Genetics, Pitié-Salpêtrière Hospital, Paris 75651, France
VAN MALDERGEM, Lionel; Centre for Human Genetics, University of Franche-Comté, Besançon 25030, France
BRUGGMANN, Rémy; Functional Genomics Center Zürich, ETH Zürich/University of Zürich, Zürich 8057, Switzerland et current address: Interfaculty Bioinformatics Unit, University of Bern/Swiss Institute of Bioinformatics, Bern 3012, Switzerland
WALITZA, Suzanne; Affiliated with the Neuroscience Center Zürich, University of Zürich and ETH Zürich (ZNZ), Zürich 8000, Switzerland et Affiliated with the Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich 8000, Switzerland et University Clinics of Child and Adolescent Psychiatry, University of Zürich, Zürich 8050, Switzerland
WANG, Joanne; Department of Pharmaceutics, University of Washington, Seattle 98195, WA, USA
GRÜNBLATT, Edna; Affiliated with the Neuroscience Center Zürich, University of Zürich and ETH Zürich (ZNZ), Zürich 8000, Switzerland - University Clinics of Child and Adolescent Psychiatry, University of Zürich, Zürich 8050, Switzerland
THÖNY, Beat; Division of Metabolism, Department of Pediatrics, University of Zürich, Zürich 8032, Switzerland - Affiliated with the Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich 8000, Switzerland - Affiliated with the Neuroscience Center Zürich, University of Zürich and ETH Zürich (ZNZ), Zürich 8000, and the Children’s Research Center (CRC), Zürich 8032, Switzerland - Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich Zürich 8032, Switzerland
The genetics of autism. Muhle R, Trentacoste SV, Rapin I, Pediatrics 2004 113 472 e486
Advances in autism. Geschwind DH, Annu Rev Med 2009 60 367 380
Autism. Levy SE, Mandell DS, Schultz RT, Lancet 2009 374 1627 1638
Genetic heritability and shared environmental factors among twin pairs with autism. Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N, Arch Gen Psychiatry 2011 68 1095 1102
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, Van Geet C, Van De Ven WJ, Steyaert JG, Devriendt K, Creemers JW, Hum Mol Genet 2010 19 1368 1378
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. De Grandis E, Serrano M, Perez-Duenas B, Ormazabal A, Montero R, Veneselli E, Pineda M, Gonzalez V, Sanmarti F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, Artuch R, Garcia-Cazorla A, J Inherit Metab Dis 2010 33 803 809
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT, Lancet Neurol 2011 10 721 733
Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Huang CH, Santangelo SL, Am J Med Genet B Neuropsychiatr Genet 2008 147B 903 913
Serotonin and brain development: role in human developmental diseases. Whitaker-Azmitia PM, Brain Res Bull 2001 56 479 485
Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism. Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL, Cook EH Jr, Veenstra-Vanderweele J, Neuropsychopharmacology 2008 33 353 360
Whole blood serotonin and plasma beta-endorphin in autistic probands and their first-degree relatives. Leboyer M, Philippe A, Bouvard M, Guilloud-Bataille M, Bondoux D, Tabuteau F, Feingold J, Mouren-Simeoni MC, Launay JM, Biol Psychiatry 1999 45 158 163
Hyperserotoninemia and altered immunity in autism. Burgess NK, Sweeten TL, McMahon WM, Fujinami RS, J Autism Dev Disord 2006 36 697 704
Developmental changes in brain serotonin synthesis capacity in autistic and nonautistic children. Chugani DC, Muzik O, Behen M, Rothermel R, Janisse JJ, Lee J, Chugani HT, Ann Neurol 1999 45 287 295
Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse. Veenstra-Vanderweele J, Jessen TN, Thompson BJ, Carter M, Prasad HC, Steiner JA, Sutcliffe JS, Blakely RD, J Neurodev Disord 2009 1 158 171
Mice genetically depleted of brain serotonin display social impairments, communication deficits and repetitive behaviors: possible relevance to autism. Kane MJ, Angoa-Perez M, Briggs DI, Sykes CE, Francescutti DM, Rosenberg DR, Kuhn DM, PLoS One 2012 7 48975
Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys. Chugani DC, Muzik O, Rothermel R, Behen M, Chakraborty P, Mangner T, da Silva EA, Chugani HT, Ann Neurol 1997 42 666 669
Role of altered brain serotonin mechanisms in autism. Chugani DC, Mol Psychiatry 2002 7 Suppl 2 16 S17
Making and breaking serotonin neurons and autism. Scott MM, Deneris ES, Int J Dev Neurosci 2005 23 277 285
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. Adamsen D, Meili D, Blau N, Thony B, Ramaekers V, Mol Genet Metab 2011 102 368 373
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa. Ramaekers VT, Senderek J, Hausler M, Haring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N, Mol Genet Metab 2001 73 179 187
A map of human genome variation from population-scale sequencing. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA, Nature 2010 467 1061 1073
Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. Zhou M, Xia L, Engel K, Wang J, J Biol Chem 2007 282 3188 3195
Identification and characterization of a novel monoamine transporter in the human brain. Engel K, Zhou M, Wang J, J Biol Chem 2004 279 50042 50049
GTP cyclohydrolase I feedback regulatory protein is expressed in serotonin neurons and regulates tetrahydrobiopterin biosynthesis. Kapatos G, Hirayama K, Shimoji M, Milstien S, J Neurochem 1999 72 669 675
Advances in autism genetics: on the threshold of a new neurobiology. Abrahams BS, Geschwind DH, Nat Rev Genet 2008 9 341 355
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD, Am J Hum Genet 2005 77 265 279
A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR, Nat Methods 2010 7 248 249
Evidence for significant contribution of a newly identified monoamine transporter (PMAT) to serotonin uptake in the human brain. Zhou M, Engel K, Wang J, Biochem Pharmacol 2007 73 147 154
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Leabman MK, Huang CC, DeYoung J, Carlson EJ, Taylor TR, de la Cruz M, Johns SJ, Stryke D, Kawamoto M, Urban TJ, Kroetz DL, Ferrin TE, Clark AG, Risch N, Herskowitz I, Giacomini KM, Proc Natl Acad Sci U S A 2003 100 5896 5901
Disorders of phenylalanine and tetrahydrobiopterin metabolism. Blau N, Bonafe L, Blaskovics ME, Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases Springer Berlin, Heidelberg, New York, Blau N, Duran M, Blaskovics ME, Gibson KM, 2 2003 106
Fundamentals of Clinical Chemistry. Burtis CA, Ashwood ER, Tietz A, Philadelphia, Saunders WB, 5 2001
Unfaithful neurotransmitter transporters: focus on serotonin uptake and implications for antidepressant efficacy. Daws LC, Pharmacol Ther 2009 121 89 99
Expression and immunolocalization of the plasma membrane monoamine transporter in the brain. Dahlin A, Xia L, Kong W, Hevner R, Wang J, Neuroscience 2007 146 1193 1211
Neurochemical characterization of pathways expressing plasma membrane monoamine transporter in the rat brain. Vialou V, Balasse L, Dumas S, Giros B, Gautron S, Neuroscience 2007 144 616 622
Patches of disorganization in the neocortex of children with autism. Stoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S, Wynshaw-Boris A, Colamarino SA, Lein ES, Courchesne E, N Engl J Med 2014 370 1209 1219
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Wegiel J, Kuchna I, Nowicki K, Imaki H, Marchi E, Ma SY, Chauhan A, Chauhan V, Bobrowicz TW, de Leon M, Louis LA, Cohen IL, London E, Brown WT, Wisniewski T, Acta Neuropathol 2010 119 755 770
Identifying essential cell types and circuits in autism spectrum disorders. Maloney SE, Rieger MA, Dougherty JD, Int Rev Neurobiol 2013 113 61 96
Modeling early cortical serotonergic deficits in autism. Boylan CB, Blue ME, Hohmann CF, Behav Brain Res 2007 176 94 108
Behavioral and cellular consequences of increasing serotonergic activity during brain development: a role in autism? Whitaker-Azmitia PM, Int J Dev Neurosci 2005 23 75 83
Pet-1 ETS gene plays a critical role in 5-HT neuron development and is required for normal anxiety-like and aggressive behavior. Hendricks TJ, Fyodorov DV, Wegman LJ, Lelutiu NB, Pehek EA, Yamamoto B, Silver J, Weeber EJ, Sweatt JD, Deneris ES, Neuron 2003 37 233 247
The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. Dougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblick L, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz N, J Neurosci 2013 33 2732 2753
Impaired monoamine and organic cation uptake in choroid plexus in mice with targeted disruption of the plasma membrane monoamine transporter (Slc29a4) gene. Duan H, Wang J, J Biol Chem 2013 288 3535 3544
