Search results for "ANK3"

showing 3 items of 3 documents

The relationship between genetic risk variants with brain structure and function in bipolar disorder: A systematic review of genetic-neuroimaging stu…

2017

Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases from inception until January 9th, 2017. Forty-four studies met eligibility criteria (N = 2122 BD participants). Twenty-six gene variants were investigated across candidate gene studies and 4 studies used a genome-wide association approach. Replicated evidence (i.e. in >2 studies) suggests that individuals with BD carrying the BDNF Val66Met risk allele could have reduced hippocampal volumes compared …

Transtorno BipolarCandidate genediffusion tensor imagingvoxel based morphometryBipolar disorderBipolar disorder Genetic polymorphisms Neuroimaging Magnetic resonance imaging Functional MRI Diffusion tensor imagingvoxel based morphometryCognitive NeuroscienceBrain Structure and FunctionGenome-wide association studyNeuroimagingComputational biologyGenetic polymorphismsFaculty of Social Sciences03 medical and health sciencesDISC1Behavioral Neuroscience0302 clinical medicineMagnetic resonance imagingNeuroimaginggenetic polymorphisms/dk/atira/pure/core/keywords/FacultyOfSocialSciencesImatges per ressonància magnèticamedicineHumansManic-depressive illnessANK3Bipolar disorderCervellNeuroimagemDiffusion tensor imagingvoxel based morphometryFunctional MRIGenetic polymorphismneuroimagingTrastorn bipolarbiologyBipolar disorder; Diffusion tensor imagingvoxel based morphometry; Functional MRI; Genetic polymorphisms; Magnetic resonance imaging; Neuroimaging; Neuropsychology and Physiological Psychology; Cognitive Neuroscience; Behavioral NeuroscienceReproducibility of ResultsBrainmedicine.disease030227 psychiatryNeuropsychology and Physiological Psychology5-HTTLPRbiology.proteinfunctional MRIImagem por Ressonância MagnéticaPsychologyNeuroscience030217 neurology & neurosurgeryHumanGenome-Wide Association Study
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Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitab…

2019

Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse assembly and function, has been implicated in several brain disorders, including autism spectrum disorders (ASD), Phelan-McDermid syndrome, schizophrenia, intellectual disability, and mania. Here we generated and characterized a Shank3 knock-in mouse line carrying the Q321R mutation (Shank3Q321R mice) identified in a human individual with ASD that affects the ankyrin repeat region (ARR) domain of the Shank3 protein. Homozygous Shank3Q321R/Q321R mice show a selective decrease in the level of Shank3a, an ARR-containing protein variant, but not other variants. CA1 pyramidal neurons in the Shank3Q321R/Q321R hip…

0301 basic medicineHippocampusautism spectrum disorderBiologyNeurotransmissionElectroencephalographyInhibitory postsynaptic potentiallcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceExcitatory synapse assembly0302 clinical medicinePostsynaptic potentialexcitabilitymedicineself-groomingEEGMolecular Biologylcsh:Neurosciences. Biological psychiatry. Neuropsychiatrypatient mutationsOriginal Researchmedicine.diagnostic_testanxiety-like behaviorseizure susceptibilitymedicine.disease030104 developmental biologyShank3SchizophreniaExcitatory postsynaptic potentialNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Molecular Neuroscience
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2017

Disruption of the human SHANK3 gene can cause several neuropsychiatric disease entities including Phelan-McDermid syndrome, autism spectrum disorder (ASD), and intellectual disability. Although, a wide array of neurobiological studies strongly supports a major role for SHANK3 in organizing the post-synaptic protein scaffold, the molecular processes at synapses of individuals harboring SHANK3 mutations are still far from being understood. In this study, we biochemically isolated the post-synaptic density (PSD) fraction from striatum and hippocampus of adult Shank3Δ11-/- mutant mice and performed ion-mobility enhanced data-independent label-free LC-MS/MS to obtain the corresponding PSD proteo…

0301 basic medicineScaffold proteinMutantHOMER1CDKL5Biologymedicine.diseaseSHANK3 GeneSynapse03 medical and health sciencesCellular and Molecular Neuroscience030104 developmental biology0302 clinical medicineAutism spectrum disordermedicineMolecular BiologyNeurosciencePostsynaptic density030217 neurology & neurosurgeryFrontiers in Molecular Neuroscience
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