Multiple rare SAPAP3 missense variants in trichotillomania and OCD

Züchner, S, Wendland, J R, Ashley-Koch, A E, Collins, A L, Tran-Viet, K N, Quinn, K, Timpano, K C, Cuccaro, M L +5 more·2009·Molecular Psychiatry
DOI 10.1038/mp.2008.83

Cited by (196)

Items 101–196 of 196

  1. Potential translational targets revealed by linking mouse grooming behavioral phenotypes to gene expression using public databases
    Andrew J. L. Roth, Evan J. Kyzar, Jonathan Cachat, Adam Stewart, Jeremy B. A. Green, Siddharth Gaikwad, Timothy P. O’Leary, Boris Tabakoff, Richard E. Brown, Allan V. Kalueff · 2012 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
  2. Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
    Claudia Schob, Fabio Morellini, Ora Ohana, Lidia Bakota, Mariya V. Hrynchak, Roland Brandt, Marco D. Brockmann, Nicole B. Cichon, Henrike Hartung, Ileana L. Hanganu‐Opatz et al. · 2019 · Translational Psychiatry
  3. Neural Correlates of Moral Evaluation and Psychopathic Traits in Male Multi-Problem Young Adults
    J. Zijlmans, R. Marhe, Floor Bevaart, Marie-Jolette A. Luijks, L. van Duin, H. Tiemeier, A. Popma · 2018 · Frontiers in Psychiatry
  4. Sapap3 deletion causes dynamic synaptic density abnormalities: a longitudinal [11C]UCB-J PET study in a model of obsessive–compulsive disorder-like behaviour
    Dorien Glorie, Jeroen A.J. Verhaeghe, Alan Miranda, Stef De Lombaerde, Sigrid G. Stroobants, Steven G. Staelens · 2020 · EJNMMI Research
  5. Pathway-specific alterations in striatal excitability and cholinergic modulation in a SAPAP3 mouse model of compulsive motor behavior
    Jeffrey M. Malgady, Alexander Baez, Zachary B. Hobel, Kimberly Jimenez, Jack Goldfried, Eric M. Prager, Jennifer A. Wilking, Qiangge Zhang, Guoping Feng, Joshua L. Plotkin · 2023 · Cell Reports
  6. Nordic OCD & Related Disorders Consortium: Rationale, design, and methods
    David Mataix‐Cols, Bjarne K. A. Hansen, Manuel Mattheisen, Elinor K. Karlsson, Anjene Musick Addington, Julia Boberg, Diana Radu Djurfeldt, Matthew Halvorsen, Paul Lichtenstein, Stian Solem et al. · 2019 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
  7. Switching to zebrafish neurobehavioral models: The obsessive–compulsive disorder paradigm
    Davide D’Amico, Xavier Estivill, Javier Terriente · 2015 · European Journal of Pharmacology
  8. Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia
    Jun-Ming Li, Chao-Lin Lu, Min-Chih Cheng, Sy-Ueng Luu, Shih-Hsin Hsu, Chia‐Hsiang Chen · 2013 · Psychiatry Research
  9. A review of animal models of obsessive-compulsive disorder: a focus on developmental, immune, endocrine and behavioral models
    M. Grados, Michael D. Prazak, Aneeqa Saif, Andrew Halls · 2016 · Expert Opinion on Drug Discovery
  10. Gene variations in PBX1, LMX1A and SLITRK1 are associated with obsessive-compulsive disorder and its clinical features
    Fernanda Brito Melo-Felippe, Leonardo Franklin Fontenelle, Fabiana B. Kohlrausch · 2018 · Journal of Clinical Neuroscience
  11. The serotonergic system in obsessive-compulsive disorder
    Maik Derksen, Matthijs G.P. Feenstra, Ingo Willuhn, Damiaan A J P Denys · 2020 · Handbook of behavioral neuroscience
  12. Psilocybin reduces grooming in the SAPAP3 knockout mouse model of compulsive behaviour
    James J Gattuso, Carey Wilson, Anthony John Hannan, Thibault Renoir · 2024 · Neuropharmacology
  13. SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities
    Yanke Zhang, Junhong Wu, Yin Yan, Yixue Gu, Yuanlin Ma, Min Wang, Hui Zhang, Kaiyan Tao, Yang Lü, Weihua Yu et al. · 2022 · Cell Death and Disease
  14. Inducible nitric oxide synthase (NOS2) knockout mice as a model of trichotillomania
    Plinio Cabrera Casarotto, Caroline Biojone, Karina Montezuma, Fernando Q. Cunha, Sâmia R.L. Joca, Eero Ċastrén, Francisco Silveira Guimarães · 2018 · PeerJ
  15. Using Optogenetics to Dissect the Neural Circuits Underlying OCD and Related Disorders
    Sean C. Piantadosi, Susanne E. Ahmari · 2015 · Current Treatment Options in Psychiatry
  16. Spinophilin Limits Metabotropic Glutamate Receptor 5 Scaffolding to the Postsynaptic Density and Cell Type Specifically Mediates Excessive Grooming
    Cameron W. Morris, Darryl S. Watkins, Nikhil R. Shah, Taylor Pennington, Basant Hens, Guihong D. Qi, Emma H. Doud, Amber L. Mosley, Brady K. Atwood, Anthony J. Baucum · 2022 · Biological Psychiatry
  17. In search of environmental risk factors for obsessive-compulsive disorder: study protocol for the OCDTWIN project
    David Mataix‐Cols, Lorena Fernández de la Cruz, Elles J. de Schipper, Ralf Kuja‐Halkola, Cynthia Marie Bulik, James J. Crowley, Janina Neufeld, Christian Rück, Kristiina Tammimies, Paul Lichtenstein et al. · 2023 · BMC Psychiatry
  18. Obsessive–compulsive or addiction? Categorical diagnostic analysis of excoriation disorder compared to obsessive-compulsive disorder and gambling disorder
    Elen C.B. Oliveira, Chelsea L. Fitzpatrick, Hyoun Soo Andrew Kim, Daniel C. R. Gulassa, Roberta Amaral, Nicoli de Mattos Cristiana, Ana Yaemi Hayashiuchi, Daniel S. McGrath, Hermano Tavares · 2019 · Psychiatry Research
  19. Progression of obsessive compulsive disorder-like grooming in Sapap3 knockout mice: A longitudinal [11C]ABP688 PET study
    Dorien Glorie, Jeroen A.J. Verhaeghe, Alan Miranda, István Kertész, Leonie Wyffels, Sigrid G. Stroobants, Steven G. Staelens · 2020 · Neuropharmacology
  20. De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome
    Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J. Guter, Carol Macmillan, Edwin H. Cook · 2017 · American Journal of Medical Genetics Part A
  21. Association of SAPAP3 allelic variants with symptom dimensions and pharmacological treatment response in obsessive–compulsive disorder.
    Safoora Naaz, Srinivas Balachander, Nithyananda Srinivasa Murthy, Bhagyalakshmi MS, Reeteka Sud, Priyanka Saha, Janardhanan C. Narayanaswamy, Janardhan Reddy YC, Sanjeev Jain, Meera Purushottam et al. · 2020 · Experimental and Clinical Psychopharmacology
  22. RETRACTED ARTICLE: Amelioration of obsessive-compulsive disorder in three mouse models treated with one epigenetic drug: unraveling the underlying mechanism
    Todorov, German, Mayilvahanan, Karthikeyan, Ashurov, David, Cunha, Catarina · 2019 · Scientific Reports · Retracted
  23. nArgBP2-SAPAP-SHANK, the core postsynaptic triad associated with psychiatric disorders
    Sang‐Eun Lee, Jung Ah Kim, Sunghoe Chang · 2018 · Experimental & Molecular Medicine
  24. Animal Models of Tourette Syndrome and Obsessive-Compulsive Disorder
    Christopher Pittenger · 2014 · Elsevier eBooks
  25. Mice lacking Ptprd exhibit deficits in goal-directed behavior and female-specific impairments in sensorimotor gating
    Emily V. Ho, Amanda C. Welch, Summer L. Thompson, James A. Knowles, Stephanie C. Dulawa · 2023 · PLoS ONE
  26. The genetics of trichotillomania and excoriation disorder: A systematic review
    Madison Reid, Ashley Lin, Luís C. Farhat, Thomas V. Fernandez, Emily Olfson · 2024 · Comprehensive Psychiatry
  27. New horizons for obsessive-compulsive disorder drug discovery: is targeting glutamate receptors the answer?
    Giacomo Grassi, Edoardo Scillitani, Chiara Cecchelli · 2024 · Expert Opinion on Drug Discovery
  28. Optogenetically-inspired neuromodulation: Translating basic discoveries into therapeutic strategies
    Caitlin A. Murphy, Bridget A. Matikainen‐Ankney, Yu-Hsuan Chang, Bryan A. Copits, Meaghan C. Creed · 2021 · International review of neurobiology
  29. Opening new vistas on obsessive-compulsive disorder with the observing response task
    Luise Pickenhan, Amy L. Milton · 2024 · Cognitive Affective & Behavioral Neuroscience
  30. Genetics of Childhood and Adolescent Anxiety
    Paul Daniel Arnold, Stephanie E. Taillefer · 2011 · Springer eBooks
  31. Gene–Environment Interactions in the Pathogenesis of Obsessive–Compulsive Symptoms in Schizophrenia
    Kyung Sue Hong · 2015 · Springer eBooks
  32. Structural and Functional Organization of the Postsynaptic Density
    Chiara Verpelli, Christopher Heise, Carlo Sala · 2014 · Elsevier eBooks
  33. How can preclinical mouse models be used to gain insight into prefrontal cortex dysfunction in obsessive-compulsive disorder?
    Elizabeth E. Manning, Susanne E. Ahmari · 2018 · Brain and Neuroscience Advances
  34. The Serotonergic System in Obsessive-Compulsive Disorder
    Addy van Dijk, André A. Klompmakers, Damiaan A J P Denys · 2010 · Handbook of behavioral neuroscience
  35. Animal models for studying obsessive-compulsive and related disorders
    Kurt Leroy Hoffman · 2015 · Elsevier eBooks
  36. Estudos de associação genética no transtorno obsessivo-compulsivo
    Aline S. Sampaio, Rita Márcia Pacheco Lins, Renato Daltro-Oliveira, Lucas de Castro Quarantini, Maria Conceição do Rosário, Eurı́pedes Constantino Miguel, Ana Gabriela Hounie · 2013 · Archives of Clinical Psychiatry (São Paulo)
  37. Disruption of prepulse inhibition is associated with severity of compulsive behavior and nucleus accumbens dopamine receptor changes in Sapap3 knockout mice
    Elizabeth E. Manning, Abigail Y Wang, Linda M Saikali, Anna S Winner, Susanne E. Ahmari · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  38. Late development of OCD-like phenotypes in Dlgap1 knockout mice
    Kimino Minagawa, Takashi Hayakawa, Hayato Akimoto, Takuya Nagashima, Yasuo Takahashi, Satoshi Asai · 2024 · Psychopharmacology
  39. Genomics of Obsessive-Compulsive Disorder and Related Disorders
    James J. Crowley · 2022 · Psychiatric Clinics of North America
  40. Genetic contributions to obsessive–compulsive disorder (OCD) and OCD-related disorders
    Dennis L. Murphy, Pablo R. Moya, Jens R. Wendland, Kiara R. Timpano · 2012 · Cambridge University Press eBooks
  41. Obsessive-Compulsive Disorder
    Monica S. Wu, Robert R. Selles, Eric A. Storch · 2017 · Springer eBooks
  42. Astrocytic VMAT2 in the developing prefrontal cortex is required for normal grooming behavior in mice
    F. Petrelli, Tamara Zehnder, L. Pucci, C. Calí, Bianca Maria Bondiolotti, A. Pérez, G. Dallérac, N. Déglon, B. Giros, F. Magara et al. · 2021 · bioRxiv
  43. Obsessive‐Compulsive and Related Disorders
    Emily J. Ricketts, Deepika Bose, John C. Piacentini · 2017 · Wiley eBooks
  44. Obsessive-Compulsive Disorder Genetics: Current and Future Directions
    Janet L. Sobell, Michele T. Pato, Carlos N. Pato, James A. Knowles · 2015 · FOCUS The Journal of Lifelong Learning in Psychiatry
  45. Bidirectional Behavioral Selection in Mice: A Novel Pre-clinical Approach to Examining Compulsivity
    Swarup Mitra, Abel Bult‐Ito · 2021 · Frontiers in Psychiatry
  46. Genetics and Epigenetics of Obsessive–Compulsive Disorder
    Federico Bernoni d'Aversa, Massimo Gennarelli · 2026 · Genes
  47. Obsessive–compulsive disorder
    Sarah B. Abdallah, Emily Olfson, Thomas V. Fernandez · 2024 · Elsevier eBooks
  48. Diagnosis and treatment of trichotillomania
    Liana R. N. Schreiber, B. Odlaug, J. Grant · 2011 · Neuropsychiatry
  49. Obsessive-Compulsive Related Disorders
    E. Breet, C. Lochner · 2015 · Springer eBooks
  50. Genomic Analysis of Trichotillomania
    M. Halvorsen, M. Garrett, M. Cuccaro, A. Ashley-Koch, James J. Crowley · 2025 · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
  51. Synaptic protein mutations in autism
    Ann Katrin Sauer, John A. Walsh, Darragh Curran, Nazanin Zohourian, Janelle E. Stanton, Ioannis Zabetakis, James A. L. Brown, Andreas Martin Grabrucker · 2026 · Neurobiology of Disease
  52. Familial trichotillomania: role of genetic factors in the determination of subtypes
    G. Alireza, F. Estilaee, M. Sadeghi · 2013 · Acta Neuropsychiatrica
  53. Neuroglia in Tourette syndrome and obsessive-compulsive disorder
    Luciana Romina Frick · 2025 · Handbook of clinical neurology
  54. N-Acetylcysteine for the Treatment of Obsessive-Compulsive Disorder
    Fabiele Fritzen, Michael H. Bloch · 2014 · Current Psychiatry Reviews
  55. Trichotillomania: a journey of personal empowerment: a qualitative study of women who engage in chronic hair pulling
    Dixon, Melissa Marie · 2016 · J. Willard Marriott Library
  56. Empirically supported treatments for obsessive-compulsive related disorders in the age of the Research Domain Criteria (RDoC)
    Ana Rabasco, Miriam Ambrosino, Dean McKay · 2019 · Journal of Obsessive-Compulsive and Related Disorders
  57. Severe Trichotillomania: An Unusual Trigger of Recurrent Diabetic Ketoacidosis
    Larissa Check, Gabriela Enciso Figueroa, Lidice Galindo, JAMIE PHAM, Robert J. Sherertz · 2022 · Cureus
  58. SAPAP4 Deletion Causes Synaptic Dysfunction in the nucleus accumbens
    Beijun Wu, Chunxia Li, Huimeng Lei · 2018 · Biochemical and Biophysical Research Communications
  59. Structural and Functional Organization of the Postsynaptic Density☆
    Chiara Verpelli, C. Heise, Carlo Sala · 2016 · Elsevier eBooks
  60. Catecol O-metiltransferase e o transtorno obsessivo-compulsivo: revisão sistemática com meta-análise
    Aline S. Sampaio · 2012 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  61. Identification of Causal Rare Variants in an Extended Pedigree with Obsessive-compulsive Disorder
    Rageen Rajendram · 2014 · TSpace (University of Toronto)
  62. Associação de traços de transtorno obsessivo-compulsivo e/ou de transtorno de personalidade obsessivo-compulsiva com traços de parafilias e/ou de transtornos parafílicos em alunas de uma faculdade de medicina
    Arnaldo Barbieri Filho · 2018
  63. La aventura de los ríos de España
    Clemente Sáenz Ridruejo · 2003 · Revista de Obras Públicas: Organo profesional de los ingenieros de caminos, canales y puertos
  64. Non-synaptic alterations in striatal excitability and cholinergic modulation in a SAPAP3 mouse model of compulsive motor behavior
    Jeffrey M. Malgady, Alexander Baez, Kimberly Jimenez, Zachary B. Hobel, Eric M. Prager, Qiangge Zhang, Guoping Feng, Joshua L. Plotkin · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  65. Cellular Mechanism of Obsessive-Compulsive Disorder
    Louis Y. Tee · 2015 · DukeSpace (Duke University)
  66. Obsessive-Compulsive Disorder
    João Maurício Castaldelli-Maia · 2015 · Elsevier eBooks
  67. Avaliação do tratamento cognitivo-comportamental estruturado para grupo de pacientes com tricotilomania
    Edson Luiz Toledo · 2014
  68. Variações raras no genoma de pacientes com transtorno obsessivo-compulsivo
    Carolina Cappi · 2013 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  69. Social dysfunction and mental retardation
    Susanna Pietropaolo, Frans Sluyter, Wim E. Crusio · 2014 · Cambridge University Press eBooks
  70. Neuroligin-1DeletionResultsinImpairedSpatialMemory andIncreasedRepetitiveBehavior
    MarcF . Bolliger · 2010
  71. Obsessive–compulsive disorder and Gilles de la Tourette syndrome
    Nancy S. Woehrle, Stephanie C. Dulawa · 2014 · Cambridge University Press eBooks
  72. Future Directions for Animal Models in Behavior Genetics
    Patrick E. Rothwell, Marc Vincent Fuccillo · 2016 · Springer eBooks
  73. Effects of Cocaine Sensitization on Drug Self-Administration, Mesocorticolimbic SAPAP Levels, and Prefrontal Ionotropic Glutamate Receptors
    Kyle C. Summers · 2015
  74. The Use of Small Animal Molecular Imaging (μPET) Exemplified in a Neurobiological Pathology
    Dorien Glorie, Stijn Servaes, Alan Miranda, Daniele Bertoglio, Jeroen A.J. Verhaeghe, Steven G. Staelens · 2020 · Springer eBooks
  75. Retraction Note: Amelioration of obsessive-compulsive disorder in three mouse models treated with one epigenetic drug: unraveling the underlying mechanism
    German I. Todorov, Karthikeyan Mayilvahanan, David Ashurov, Catarina Cunha · 2021 · Scientific Reports · Retracted
  76. DNA Methyltransferase Inhibitor Successfully Treats Obsessive-Compulsive Disorder in Various Mouse Models
    Catarina Cunha, German I. Todorov, David Ashurov, Catarina Cunha · 2021 · Neurology and Neurobiology
  77. Nautilus: los secretos de una antigua criatura
    Arturo Valledor de Lozoya · 2001 · Quercus eBooks
  78. Bibliography: Obsessive-Compulsive and Related Disorders
    2015 · FOCUS The Journal of Lifelong Learning in Psychiatry
  79. Excessive Cap-dependent Translation as a Molecular Mechanism Underlying ASD
    Eric Klann · 2014 · Defense Technical Information Center (DTIC)
  80. Peer Review #1 of "Inducible nitric oxide synthase (NOS2) knockout mice as a model of trichotillomania (v0.1)"
    2018 · PeerJ
  81. Peer Review #2 of "Inducible nitric oxide synthase (NOS2) knockout mice as a model of trichotillomania (v0.1)"
    2018 · PeerJ
  82. The role of RNA in synapse physiology and neurodegeneration in models of Parkinson´s disease
    Maria Xylaki · 2021
  83. Mice lacking Ptprd exhibit deficits in goal-directed behavior and female-specific impairments in sensorimotor gating
    Emily V. Ho, Amanda C. Welch, JA Knowles, Stephanie C. Dulawa · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  84. Genetics of Childhood and Adolescent Anxiety and Obsessive-Compulsive Disorders
    Paul Daniel Arnold, Lilit Antonyan, Francis Routledge, Sandra Melanie Meier · 2022 · Springer eBooks
  85. Nutritional Deficiencies in Obsessive-Compulsive Disorder and Possible Treatment Interventions
    Pranshul Sethi, Sumit Kumar, Aradhana Prajapati, Zakariya Irfanullah, Chonnakarn Jatchavala, Ramyadarshni Vadivel, Samer El Hayek · 2022 · Nutritional neurosciences
  86. Disruptive, Impulse-Control, and Conduct Disorders
    Ashika Bains, Kathy M. Sanders · 2024 · Elsevier eBooks
  87. Molecular Modeling and In Vitro Functional Analysis of the RGS12 PDZ Domain Variant Associated with High-Penetrance Familial Bipolar Disorder
    Percy S. Agogo-Mawuli, Joseph Mendez, Emily A. Oestreich, Dustin E. Bosch, David Peter Siderovski · 2024 · International Journal of Molecular Sciences
  88. Gene therapy for obsessive–compulsive disorder: Basic research and clinical prospects
    Fatemeh Bamarinejad, Marzieh Shokoohi, Atefeh Bamarinejad · 2025 · Personalized Medicine in Psychiatry
  89. Additional file 1 of Sapap3 deletion causes dynamic synaptic density abnormalities: a longitudinal [11C]UCB-J PET study in a model of obsessive–compulsive disorder-like behaviour
    Dorien Glorie, Verhaeghe, Jeroen, Miranda, Alan, Stef De Lombaerde, Sigrid G. Stroobants, Steven G. Staelens · 2020 · Figshare
  90. Organisation et dynamique des protéines d'échafaudage de la postsynapse glutamatergique : implications dans la physio-pathologie de la transmission synaptique.
    Enora Moutin · 2011 · theses.fr (ABES)
  91. Apport d'une approche translationnelle dans l'étude du lien entre flexibilité cognitive et compulsion : une étude comportementale trans-espèces
    Nabil Benzina · 2019 · theses.fr (ABES)
  92. Combining a real-time closed-loop system with neuromodulation : an integrative approach to prevent pathological repetitive behaviors
    Sirenia Lizbeth Mondragón-González · 2019 · theses.fr (ABES)
  93. Modulation de la synapse cortico-striatale par la cholécystokinine : la cholécystokinine : un acteur majeur de la transmission cortico-striatale et de la plasticité synaptique
    C. Guillaume · 2023 · theses.fr (ABES)
  94. Investigating Treatment Response in Obsessive–Compulsive Disorder Through Neuromodulation and Patient-Derived Induced Pluripotent Stem Cell Models: Preliminary Clinical Observations from a Translational Study
    Beatrice Benatti, Matteo Marcatili, Rodolfo Leuzzi, Massimo Clerici, Luciano Conti, Massimo Gennarelli, Carlo Sala, Federico Bernoni d'Aversa, V. Casati, Michele Castiglioni et al. · 2026 · Brain Sciences
  95. Animal models of obsessive-compulsive disorder
    Pablo R. Moya, Nicolás M. Ardiles, Francisca Henríquez-Belmar, Wladimir Plaza-Briceño, Paula Acevedo-Hernández · 2026 · Elsevier eBooks
  96. Genetics and family studies
    James Joseph Crowley · 2026 · Elsevier eBooks