Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1

[1]  T. Südhof,et al.  A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export , 2009, The Journal of Neuroscience.

[2]  D. Kwiatkowski,et al.  Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner , 2009, The Journal of Neuroscience.

[3]  T. Fujita.  Heritable Neurodevelopmental Disorders and Endoplasmic Reticulum Stress , 2009 .

[4]  P. Thuras,et al.  Expression of GABAB Receptors Is Altered in Brains of Subjects with Autism , 2009, The Cerebellum.

[5]  Zhiling Yu,et al.  Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. , 2008, Biochemical and biophysical research communications.

[6]  Jens Frahm,et al.  Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism , 2008, Proceedings of the National Academy of Sciences.

[7]  Katarzyna Chawarska,et al.  Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. , 2008, American journal of human genetics.

[8]  Jacqueline Blundell,et al.  A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice , 2007, Science.

[9]  D. Klionsky,et al.  Physiological functions of Atg6/Beclin 1: a unique autophagy-related protein , 2007, Cell Research.

[10]  M. Casanova,et al.  The Neuropathology of Autism , 2007, Brain pathology.

[11]  K. Nader,et al.  eIF2α Phosphorylation Bidirectionally Regulates the Switch from Short- to Long-Term Synaptic Plasticity and Memory , 2007, Cell.

[12]  Y. Hayashi,et al.  Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). , 2007, Human molecular genetics.

[13]  Y Kouroku,et al.  ER stress (PERK/eIF2α phosphorylation) mediates the polyglutamine-induced LC3 conversion, an essential step for autophagy formation , 2007, Cell Death and Differentiation.

[14]  M. Sisido,et al.  FRET analysis of protein conformational change through position-specific incorporation of fluorescent amino acids , 2006, Nature Methods.

[15]  Thomas C. Südhof,et al.  Neuroligins Determine Synapse Maturation and Function , 2006, Neuron.

[16]  T. Momoi.  Conformational diseases and ER stress-mediated cell death: apoptotic cell death and autophagic cell death. , 2006, Current molecular medicine.

[17]  K. Toshimori,et al.  Oligo-Astheno-Teratozoospermia in Mice Lacking RA175/TSLC1/SynCAM/IGSF4A, a Cell Adhesion Molecule in the Immunoglobulin Superfamily , 2006, Molecular and Cellular Biology.

[18]  Marc A. Martí-Renom,et al.  MODBASE: a database of annotated comparative protein structure models and associated resources , 2005, Nucleic Acids Res..

[19]  E. London,et al.  The Neuropathology of Autism: A Review , 2005, Journal of neuropathology and experimental neurology.

[20]  B. Bettler,et al.  Subtype-selective Interaction with the Transcription Factor CCAAT/Enhancer-binding Protein (C/EBP) Homologous Protein (CHOP) Regulates Cell Surface Expression of GABAB Receptors* , 2005, Journal of Biological Chemistry.

[21]  Ann Marie Craig,et al.  Neurexins Induce Differentiation of GABA and Glutamate Postsynaptic Specializations via Neuroligins , 2004, Cell.

[22]  Igor Tsigelny,et al.  The Arg451Cys-Neuroligin-3 Mutation Associated with Autism Reveals a Defect in Protein Processing , 2004, The Journal of Neuroscience.

[23]  A. Hardan,et al.  Topical Review : Neuropsychiatric Problems in Tuberous Sclerosis Complex , 2004 .

[24]  A. Hardan,et al.  Neuropsychiatric problems in tuberous sclerosis complex. , 2004, Journal of child neurology.

[25]  I. Braakman,et al.  Quality control in the endoplasmic reticulum protein factory , 2003, Nature.

[26]  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.

[27]  E. Fujita,et al.  RA175, which is the mouse ortholog of TSLC1, a tumor suppressor gene in human lung cancer, is a cell adhesion molecule. , 2003, Experimental cell research.

[28]  Manuel C. Peitsch,et al.  SWISS-MODEL: an automated protein homology-modeling server , 2003, Nucleic Acids Res..

[29]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[30]  D. Ron,et al.  Translational control in the endoplasmic reticulum stress response. , 2002, The Journal of clinical investigation.

[31]  S. Takai,et al.  Recombinant human chymase produced by silkworm-baculovirus expression system: its application for a chymase detection kit. , 2002, Japanese journal of pharmacology.

[32]  T. Südhof,et al.  SynCAM, a Synaptic Adhesion Molecule That Drives Synapse Assembly , 2002, Science.

[33]  P. Curatolo,et al.  Tuberous sclerosis complex: a review of neurological aspects. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[34]  M. Lauritsen,et al.  The genetics of autism , 2001, Acta psychiatrica Scandinavica.

[35]  R. Fetter,et al.  Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons , 2000, Cell.

[36]  D. Perlmutter,et al.  Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[37]  H. Zinszner,et al.  Identification of novel stress‐induced genes downstream of chop , 1998, The EMBO journal.

[38]  R. Kopito.  ER Quality Control: The Cytoplasmic Connection , 1997, Cell.

[39]  Xiaozhong Wang,et al.  Signals from the stressed endoplasmic reticulum induce C/EBP-homologous protein (CHOP/GADD153) , 1996, Molecular and cellular biology.

[40]  M. Billeter,et al.  MOLMOL: a program for display and analysis of macromolecular structures. , 1996, Journal of molecular graphics.