Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

[1]  D. Sabatini,et al.  Sestrin2 is a leucine sensor for the mTORC1 pathway , 2016, Science.

[2]  M. Scalise,et al.  LAT1 is the transport competent unit of the LAT1/CD98 heterodimeric amino acid transporter. , 2015, The international journal of biochemistry & cell biology.

[3]  R. Kooy,et al.  The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders , 2015, Neuron.

[4]  S. Linnarsson,et al.  Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq , 2015, Science.

[5]  V. Peta,et al.  Functional and molecular effects of mercury compounds on the human OCTN1 cation transporter: C50 and C136 are the targets for potent inhibition. , 2015, Toxicological sciences : an official journal of the Society of Toxicology.

[6]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[7]  Christopher S. Poultney,et al.  Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.

[8]  K. Hedfalk,et al.  Transport mechanism and regulatory properties of the human amino acid transporter ASCT2 (SLC1A5) , 2014, Amino Acids.

[9]  M. Scalise,et al.  Cloning, Large Scale Over-Expression in E. coli and Purification of the Components of the Human LAT 1 (SLC7A5) Amino Acid Transporter , 2013, The Protein Journal.

[10]  M. Scattoni,et al.  Characterization of Neonatal Vocal and Motor Repertoire of Reelin Mutant Mice , 2013, PloS one.

[11]  Sarah L. DeVos,et al.  Direct Intraventricular Delivery of Drugs to the Rodent Central Nervous System , 2013, Journal of visualized experiments : JoVE.

[12]  Linda V. Sinclair,et al.  Control of amino-acid transport by antigen receptors coordinates the metabolic reprogramming essential for T cell differentiation , 2013, Nature Immunology.

[13]  D. Fotiadis,et al.  The SLC3 and SLC7 families of amino acid transporters. , 2013, Molecular aspects of medicine.

[14]  A. Sali,et al.  Structure-based ligand discovery for the Large-neutral Amino Acid Transporter 1, LAT-1 , 2013, Proceedings of the National Academy of Sciences.

[15]  Christos G. Gkogkas,et al.  Autism-related deficits via dysregulated eIF4E-dependent translational control , 2012, Nature.

[16]  E. Klann,et al.  Exaggerated Translation Causes Synaptic and Behavioral Aberrations Associated with Autism , 2012, Nature.

[17]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[18]  Robert A Harris,et al.  Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy , 2012, Science.

[19]  E. Klann,et al.  Brain-specific disruption of the eIF2α kinase PERK decreases ATF4 expression and impairs behavioral flexibility. , 2012, Cell reports.

[20]  Qian Wang,et al.  Androgen receptor and nutrient signaling pathways coordinate the demand for increased amino acid transport during prostate cancer progression. , 2011, Cancer research.

[21]  Lief E. Fenno,et al.  Neocortical excitation/inhibition balance in information processing and social dysfunction , 2011, Nature.

[22]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[23]  Jacqueline N. Crawley,et al.  Sociability and motor functions in Shank1 mutant mice , 2011, Brain Research.

[24]  E. Boles,et al.  Over-Expression in E. coli and Purification of the Human OCTN2 Transport Protein , 2011, Molecular Biotechnology.

[25]  G. Garden,et al.  A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia , 2010, Journal of visualized experiments : JoVE.

[26]  Yigong Shi,et al.  Mechanism of substrate recognition and transport by an amino acid antiporter , 2010, Nature.

[27]  N. Su,et al.  ATF4-dependent transcription mediates signaling of amino acid limitation , 2009, Trends in Endocrinology & Metabolism.

[28]  Peter Nürnberg,et al.  HomozygosityMapper—an interactive approach to homozygosity mapping , 2009, Nucleic Acids Res..

[29]  Maria Luisa Scattoni,et al.  Ultrasonic vocalizations: A tool for behavioural phenotyping of mouse models of neurodevelopmental disorders , 2009, Neuroscience & Biobehavioral Reviews.

[30]  J. Maguire,et al.  Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.

[31]  Charles Elkan,et al.  The Transporter Classification Database: recent advances , 2008, Nucleic Acids Res..

[32]  G. Homanics,et al.  Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease , 2008, Brain : a journal of neurology.

[33]  M. Yliperttula,et al.  Pharmacokinetic role of L-type amino acid transporters LAT1 and LAT2. , 2008, European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences.

[34]  E. Nestler,et al.  Induction of Activating Transcription Factors (ATFs) ATF2, ATF3, and ATF4 in the Nucleus Accumbens and Their Regulation of Emotional Behavior , 2008, The Journal of Neuroscience.

[35]  E. Klann,et al.  Cap-dependent translation initiation and memory. , 2008, Progress in brain research.

[36]  Jacqueline N. Crawley,et al.  Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains , 2007, Behavioural Brain Research.

[37]  Robert Gentleman,et al.  Using GOstats to test gene lists for GO term association , 2007, Bioinform..

[38]  John M Desesso,et al.  Postnatal growth and morphological development of the brain: a species comparison. , 2006, Birth defects research. Part B, Developmental and reproductive toxicology.

[39]  R. Deacon,et al.  Digging and marble burying in mice: simple methods for in vivo identification of biological impacts , 2006, Nature Protocols.

[40]  K. Nader,et al.  Translational control of hippocampal synaptic plasticity and memory by the eIF2α kinase GCN2 , 2005, Nature.

[41]  S. Jamain,et al.  Neuroligin 2 is exclusively localized to inhibitory synapses. , 2004, European journal of cell biology.

[42]  E. Kandel,et al.  Inducible Enhancement of Memory Storage and Synaptic Plasticity in Transgenic Mice Expressing an Inhibitor of ATF4 (CREB-2) and C/EBP Proteins , 2003, Neuron.

[43]  D. Steindler,et al.  Regulated Expression of ATF5 Is Required for the Progression of Neural Progenitor Cells to Neurons , 2003, The Journal of Neuroscience.

[44]  F. Verrey System L: heteromeric exchangers of large, neutral amino acids involved in directional transport , 2003, Pflügers Archiv.

[45]  W. Delano Unraveling hot spots in binding interfaces: progress and challenges. , 2002, Current opinion in structural biology.

[46]  S. Dunnett,et al.  Motor Coordination and Balance in Rodents , 2001, Current protocols in neuroscience.

[47]  R. Hammer,et al.  Tie2-Cre transgenic mice: a new model for endothelial cell-lineage analysis in vivo. , 2001, Developmental biology.

[48]  Y. Kanai,et al.  Expression of a system L neutral amino acid transporter at the blood–brain barrier , 2000, Neuroreport.

[49]  C. Shoemaker,et al.  Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family , 1998, Nature.

[50]  J. E. Wraith,et al.  Histidinaemia: a benign metabolic disorder. , 1996, Archives of disease in childhood.

[51]  A. Bailey,et al.  Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.

[52]  J. Lefauconnier,et al.  Developmental changes in the pattern of amino acid transport at the blood-brain barrier in rats. , 1983, Brain research.

[53]  W. Oldendorf,et al.  Newborn Rabbit Blood–Brain Barrier Is Selectively Permeable and Differs Substantially from the Adult , 1980, Journal of neurochemistry.

[54]  S. Folstein,et al.  Genetic influences and infantile autism , 1977, Nature.

[55]  L. E. Holt,et al.  MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY. , 1964, Pediatrics.

[56]  J. Craig,et al.  A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. , 1954, Pediatrics.

[57]  G. Stirling ARCHIVES OF DISEASE IN CHILDHOOD , 2004 .