Mouse Genetic Models of Human Brain Disorders

Neuroligin-2 and the tightrope of excitation/inhibition balance in the prefrontal cortex

(2016) Alice M. S. Durieux et al.   JOURNAL OF NEUROPHYSIOLOGY

Altered Striatal Synaptic Function and Abnormal Behaviour inShank3Exon4-9 Deletion Mouse Model of Autism

(2015) Thomas C. Jaramillo et al.   Autism Research

Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.

(2015) James Dachtler et al.   BEHAVIORAL NEUROSCIENCE

Hyperactivity and lack of social discrimination in the adolescent Fmr1 knockout mouse

(2015) Emilie M. Sørensen et al.   BEHAVIOURAL PHARMACOLOGY

Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits

(2015) H. E. Speed et al.   JOURNAL OF NEUROSCIENCE

LIMK1 Regulates Long-Term Memory and Synaptic Plasticity via the Transcriptional Factor CREB

(2015) Zarko Todorovski et al.   MOLECULAR AND CELLULAR BIOLOGY

Conditional neuroligin-2 knockout in adult medial prefrontal cortex links chronic changes in synaptic inhibition to cognitive impairments

(2015) J Liang et al.   MOLECULAR PSYCHIATRY

Tau post-translational modifications in wild-type and human amyloid precursor protein transgenic mice

(2015) Meaghan Morris et al.   NATURE NEUROSCIENCE

The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study

(2015) Amos Gdalyahu et al.   PLoS One

Perturbed Hippocampal Synaptic Inhibition and γ-Oscillations in a Neuroligin-4 Knockout Mouse Model of Autism

(2015) Matthieu Hammer et al.   Cell Reports

Analysis ofFmr1Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus

(2014) Anahita Amiri et al.   Autism Research

Autism-Associated Neuroligin-3 Mutations Commonly Impair Striatal Circuits to Boost Repetitive Behaviors

(2014) Patrick E. Rothwell et al.   CELL

Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways

(2014) Lauran Reyniers et al.   JOURNAL OF NEUROCHEMISTRY

Caspr and Caspr2 Are Required for Both Radial and Longitudinal Organization of Myelinated Axons

(2014) A. Gordon et al.   JOURNAL OF NEUROSCIENCE

LRRK2 regulates synaptogenesis and dopamine receptor activation through modulation of PKA activity

(2014) Loukia Parisiadou et al.   NATURE NEUROSCIENCE

Disc1 Variation Leads to Specific Alterations in Adult Neurogenesis

(2014) Jayanth S. Chandran et al.   PLoS One

Behavioral Phenotyping of Parkin-Deficient Mice: Looking for Early Preclinical Features of Parkinson's Disease

(2014) Daniel Rial et al.   PLoS One

Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior in Mice

(2014) Luis G. Rabaneda et al.   Cell Reports

LRRK2 R1441G mice are more liable to dopamine depletion and locomotor inactivity

(2014) Hui-Fang Liu et al.   Annals of Clinical and Translational Neurology

Phenotypic characterization of C57BL/6J mice carrying the Disc1 gene from the 129S6/SvEv strain

(2013) Liang-Wen Juan et al.   Brain Structure & Function

Shining a light on CNTNAP2: complex functions to complex disorders

(2013) Pedro Rodenas-Cuadrado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Controlling complexity: the clinical relevance of mouse complex genetics

(2013) Klaus Schughart et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic Endocannabinoid Signaling

(2013) Csaba Földy et al.   NEURON

Characterization of the APP/PS1 mouse model of Alzheimer's disease in senescence accelerated background

(2013) Kenghoe Lok et al.   NEUROSCIENCE LETTERS

SHANK3 as an autism spectrum disorder-associated gene

(2012) Shigeo Uchino et al.   BRAIN & DEVELOPMENT

(G2019S) LRRK2 activates MKK4-JNK pathway and causes degeneration of SN dopaminergic neurons in a transgenic mouse model of PD

(2012) C-Y Chen et al.   CELL DEATH AND DIFFERENTIATION

Group I and II mammalian PAKs have different modes of activation by Cdc42

(2012) Yohendran Baskaran et al.   EMBO REPORTS

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4

(2012) E. Ey et al.   GENES BRAIN AND BEHAVIOR

Alteration of Synaptic Network Dynamics by the Intellectual Disability Protein PAK3

(2012) A. Dubos et al.   JOURNAL OF NEUROSCIENCE

Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction

(2012) M Ayalew et al.   MOLECULAR PSYCHIATRY

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

High LRRK2 Levels Fail to Induce or Exacerbate Neuronal Alpha-Synucleinopathy in Mouse Brain

(2012) Martin C. Herzig et al.   PLoS One

Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development

(2012) G. R. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness

(2011) Dinesh C. Soares et al.   ACS Chemical Neuroscience

Toward defining the preclinical stages of Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Reisa A. Sperling et al.   Alzheimers & Dementia

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation

(2011) Kirin Basuta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Amyloid Precursor Protein Processing and Alzheimer's Disease

(2011) Richard J. O'Brien et al.   Annual Review of Neuroscience

Mouse models of Alzheimer's disease

(2011) Alicia M. Hall et al.   BRAIN RESEARCH BULLETIN

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

AD pathology—emerging subtypes or age-of-onset spectrum?

(2011) Eliezer Masliah et al.   Nature Reviews Neurology

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Synergistic interactions between PDE4B and GSK-3: DISC1 mutant mice

(2011) Tatiana V. Lipina et al.   NEUROPHARMACOLOGY

Neuropathology in Mice Expressing Mouse Alpha-Synuclein

(2011) Claus Rieker et al.   PLoS One

Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice

(2011) M. Kvajo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches

(2010) Carolyn B. Mervis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Overexpression of the cell adhesion protein neuroligin-1 induces learning deficits and impairs synaptic plasticity by altering the ratio of excitation to inhibition in the hippocampus

(2010) Regina Dahlhaus et al.   HIPPOCAMPUS

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior

(2010) J. Blundell et al.   JOURNAL OF NEUROSCIENCE

Enhanced Striatal Dopamine Transmission and Motor Performance with LRRK2 Overexpression in Mice Is Eliminated by Familial Parkinson's Disease Mutation G2019S

(2010) X. Li et al.   JOURNAL OF NEUROSCIENCE

p21-Activated Kinases 1 and 3 Control Brain Size through Coordinating Neuronal Complexity and Synaptic Properties

(2010) W. Huang et al.   MOLECULAR AND CELLULAR BIOLOGY

Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice

(2010) H.L. Melrose et al.   NEUROBIOLOGY OF DISEASE

Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice

(2010) B. Winner et al.   NEUROBIOLOGY OF DISEASE

Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China

(2010) Bao-rong Zhang et al.   NEUROSCIENCE LETTERS

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

Phenotypic Characterization of Transgenic Mice Overexpressing Neuregulin-1

(2010) Taisuke Kato et al.   PLoS One

   -Synuclein triple knockout mice reveal age-dependent neuronal dysfunction

(2010) B. Greten-Harrison et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Presenilin transgenic mice as models of Alzheimer’s disease

(2009) Gregory A. Elder et al.   Brain Structure & Function

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

(2009) K. Radyushkin et al.   GENES BRAIN AND BEHAVIOR

Leucine-rich repeat kinase 2 phosphorylates brain tubulin-beta isoforms and modulates microtubule stability - a point of convergence in Parkinsonian neurodegeneration?

(2009) Frank Gillardon   JOURNAL OF NEUROCHEMISTRY

Absence of nigral degeneration in aged parkin/DJ-1/PINK1 triple knockout mice

(2009) Tohru Kitada et al.   JOURNAL OF NEUROCHEMISTRY

Phosphorylation of Ezrin/Radixin/Moesin Proteins by LRRK2 Promotes the Rearrangement of Actin Cytoskeleton in Neuronal Morphogenesis

(2009) L. Parisiadou et al.   JOURNAL OF NEUROSCIENCE

Understanding the Role of DISC1 in Psychiatric Disease and during Normal Development

(2009) N. J. Brandon et al.   JOURNAL OF NEUROSCIENCE

Unexpected Lack of Hypersensitivity in LRRK2 Knock-Out Mice to MPTP (1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine)

(2009) E. Andres-Mateos et al.   JOURNAL OF NEUROSCIENCE

Bacterial Artificial Chromosome Transgenic Mice Expressing a Truncated Mutant Parkin Exhibit Age-Dependent Hypokinetic Motor Deficits, Dopaminergic Neuron Degeneration, and Accumulation of Proteinase K-Resistant  -Synuclein

(2009) X.-H. Lu et al.   JOURNAL OF NEUROSCIENCE

Molecular interaction between parkin and PINK1 in mammalian neuronal cells

(2009) Ji Won Um et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Alpha-synuclein and familial Parkinson's disease

(2009) Nathan Pankratz et al.   MOVEMENT DISORDERS

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Mutant LRRK2 R1441G BAC transgenic mice recapitulate cardinal features of Parkinson's disease

(2009) Yanping Li et al.   NATURE NEUROSCIENCE

Genomic and proteomic biomarkers for Parkinson disease

(2009) T. Gasser   NEUROLOGY

α-Synuclein and LRRK2: Partners in Crime

(2009) Youren Tong et al.   NEURON

Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson's-Disease-Related Mutant α-synuclein

(2009) Xian Lin et al.   NEURON

Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Dopamine Hypothesis of Schizophrenia: Version III--The Final Common Pathway

(2009) O. D. Howes et al.   SCHIZOPHRENIA BULLETIN

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Behavioral profile of a heterozygous mutant mouse model for EGF-like domain neuregulin 1.

(2008) Liesl Duffy et al.   BEHAVIORAL NEUROSCIENCE

Parkinson's disease: clinical features and diagnosis

(2008) J Jankovic   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Synaptic Imbalance, Stereotypies, and Impaired Social Interactions in Mice with Altered Neuroligin 2 Expression

(2008) R. M. Hines et al.   JOURNAL OF NEUROSCIENCE

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Overexpression of wild-type human APP in mice causes cognitive deficits and pathological features unrelated to Aβ levels

(2008) Ana-María Simón et al.   NEUROBIOLOGY OF DISEASE

Regulation of hippocampal long-term potentiation by p21-activated protein kinase 1 (PAK1)

(2008) Suhail Asrar et al.   NEUROPHARMACOLOGY

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuroligin-1 is required for normal expression of LTP and associative fear memory in the amygdala of adult animals

(2008) Juhyun Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cell systems and the toxic mechanism(s) of α-synuclein

(2007) Mark R. Cookson et al.   EXPERIMENTAL NEUROLOGY