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https://www.readbyqxmd.com/read/27919711/epigenetic-dysfunctional-diseases-and-therapy-for-infection-and-inflammation
#1
REVIEW
Saheli Samanta, Sheeja Rajasingh, Thuy Cao, Buddhadeb Dawn, Johnson Rajasingh
Even though the discovery of the term 'epigenetics' was in the 1940s, it has recently become one of the most promising and expanding fields to unravel the gene expression pattern in several diseases. The most well studied example is cancer, but other diseases like metabolic disorders, autism, or inflammation-associated diseases such as lung injury, autoimmune disease, asthma, and type-2 diabetes display aberrant gene expression and epigenetic regulation during their occurrence. The change in the epigenetic pattern of a gene may also alter gene function because of a change in the DNA status...
December 2, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27870441/sexual-divergence-in-activity-dependent-neuroprotective-protein-impacting-autism-schizophrenia-and-alzheimer-s-disease
#2
REVIEW
Illana Gozes
Discovered in our laboratory, activity-dependent neuroprotective protein (ADNP) interacts with key regulatory proteins, including the chromatin remodeling complex SWI/SNF, proteins associated with RNA splicing, RNA translation, microtubule dynamics, and autophagy. ADNP regulates > 400 genes during mouse embryonic development and is essential for neural tube closure. ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27815839/disruption-of-ninjurin1-leads-to-repetitive-and-anxiety-like-behaviors-in-mice
#3
Hoang Le, Bum Ju Ahn, Hye Shin Lee, Anna Shin, Sujin Chae, Sung Yi Lee, Min Wook Shin, Eun-Ji Lee, Jong-Ho Cha, Taekwon Son, Ji Hae Seo, Hee-Jun Wee, Hyo-Jong Lee, Yongwoo Jang, Eng H Lo, Sejin Jeon, Goo Taeg Oh, Daesoo Kim, Kyu-Won Kim
Over the last few decades, molecular neurobiology has uncovered many genes whose deficiency in mice results in behavioral traits associated with human neuropsychiatric disorders such as autism, obsessive-compulsive disorder (OCD), and schizophrenia. However, the etiology of these common diseases remains enigmatic with the potential involvement of a battery of genes. Here, we report abnormal behavioral phenotypes of mice deficient in a cell adhesion molecule Ninjurin 1 (Ninj1), which are relevant to repetitive and anxiety behaviors of neuropsychiatric disorders...
November 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27789404/establishment-of-ehmt1-mutant-induced-pluripotent-stem-cell-ipsc-line-from-a-11-year-old-kleefstra-syndrome-ks-patient-with-autism-and-normal-intellectual-performance
#4
Eszter Varga, Csilla Nemes, Zsuzsanna Táncos, István Bock, Sára Berzsenyi, György Lévay, Viktor Román, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a clinically characterized female Kleefstra syndrome patient with a heterozygous, de novo, premature termination codon (PTC) mutation (NM_024757.4(EHMT1):c.3413G>A; p.Trp1138Ter). Peripheral blood mononuclear cells (PBMCs) were reprogrammed with the human OSKM transcription factors using the Sendai-virus (SeV) delivery system. The pluripotency of transgene-free iPSC line was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers...
October 2, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27788777/test-for-association-of-common-variants-in-grm7-with-alcohol-consumption
#5
Whitney E Melroy-Greif, Csaba Vadasz, Helen M Kamens, Matthew B McQueen, Robin P Corley, Michael C Stallings, Christian J Hopfer, Kenneth S Krauter, Sandra A Brown, John K Hewitt, Marissa A Ehringer
Recent work using a mouse model has identified the glutamate metabotropic receptor 7 (Grm7) gene as a strong candidate gene for alcohol consumption. Although there has been some work examining the effect of human glutamate metabotropic receptor 7 (GRM7) polymorphisms on human substance use disorders, the majority of the work has focused on other psychiatric disorders such as ADHD, major depressive disorder, schizophrenia, bipolar disorder, panic disorder, and autism spectrum disorders. The current study aimed to evaluate evidence for association between GRM7 and alcohol behaviors in humans using a single nucleotide polymorphism (SNP) approach, as well as a gene-based approach...
September 2016: Alcohol
https://www.readbyqxmd.com/read/27782878/npas1-arnt-and-npas3-arnt-crystal-structures-implicate-the-bhlh-pas-family-as-multi-ligand-binding-transcription-factors
#6
Dalei Wu, Xiaoyu Su, Nalini Potluri, Youngchang Kim, Fraydoon Rastinejad
The neuronal PAS domain proteins NPAS1 and NPAS3 are members of the basic helix-loop-helix-PER-ARNT-SIM (bHLH-PAS) family, and their genetic deficiencies are linked to a variety of human psychiatric disorders including schizophrenia, autism spectrum disorders and bipolar disease. NPAS1 and NPAS3 must each heterodimerize with the aryl hydrocarbon receptor nuclear translocator (ARNT), to form functional transcription complexes capable of DNA binding and gene regulation. Here we examined the crystal structures of multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering each to contain four putative ligand-binding pockets...
October 26, 2016: ELife
https://www.readbyqxmd.com/read/27754318/selection-of-suitable-reference-genes-for-analysis-of-salivary-transcriptome-in-non-syndromic-autistic-male-children
#7
Yasin Panahi, Fahimeh Salasar Moghaddam, Zahra Ghasemi, Mandana Hadi Jafari, Reza Shervin Badv, Mohamad Reza Eskandari, Mehrdad Pedram
Childhood autism is a severe form of complex genetically heterogeneous and behaviorally defined set of neurodevelopmental diseases, collectively termed as autism spectrum disorders (ASD). Reverse transcriptase quantitative real-time PCR (RT-qPCR) is a highly sensitive technique for transcriptome analysis, and it has been frequently used in ASD gene expression studies. However, normalization to stably expressed reference gene(s) is necessary to validate any alteration reported at the mRNA level for target genes...
October 12, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27663735/neurotensin-stimulates-sortilin-and-mtor-in-human-microglia-inhibitable-by-methoxyluteolin-a-potential-therapeutic-target-for-autism
#8
Arti B Patel, Irene Tsilioni, Susan E Leeman, Theoharis C Theoharides
We had reported elevated serum levels of the peptide neurotensin (NT) in children with autism spectrum disorders (ASD). Here, we show that NT stimulates primary human microglia, the resident immune cells of the brain, and the immortalized cell line of human microglia-SV40. NT (10 nM) increases the gene expression and release (P < 0.001) of the proinflammatory cytokine IL-1β and chemokine (C-X-C motif) ligand 8 (CXCL8), chemokine (C-C motif) ligand 2 (CCL2), and CCL5 from human microglia. NT also stimulates proliferation (P < 0...
September 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27643697/changes-in-insulin-like-growth-factor-signaling-alter-phenotypes-in-fragile-x-mice
#9
T L Wise
Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5' untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing. Two non-neurological phenotypes of FXS are enlarged testes and connective tissue dysplasia, which could be caused by alterations in a growth factor signaling pathway. FXS patients also frequently have autistic-like symptoms, suggesting that the signaling pathways affected in FXS may overlap with those affected in autism...
September 19, 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27626659/%C3%AE-2%C3%AE-3-is-required-for-rapid-transsynaptic-homeostatic-signaling
#10
Tingting Wang, Ryan T Jones, Jenna M Whippen, Graeme W Davis
The homeostatic modulation of neurotransmitter release, termed presynaptic homeostatic potentiation (PHP), is a fundamental type of neuromodulation, conserved from Drosophila to humans, that stabilizes information transfer at synaptic connections throughout the nervous system. Here, we demonstrate that α2δ-3, an auxiliary subunit of the presynaptic calcium channel, is required for PHP. The α2δ gene family has been linked to chronic pain, epilepsy, autism, and the action of two psychiatric drugs: gabapentin and pregabalin...
September 13, 2016: Cell Reports
https://www.readbyqxmd.com/read/27616580/-the-cerebellum-as-a-major-player-in-motor-disturbances-related-to-autistic-syndrome-disorders
#11
M Jaber
SCIENTIFIC BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental disorders associated with disturbances in communication, social interactions, cognition and affect. ASD are also accompanied by complex movement disorders, including ataxia. A special focus of recent research in this area is made on the striatum and the cerebellum, two structures known not only to control movement but also to be involved in cognitive functions such as memory and language. Dysfunction within the motor system may be associated with abnormal movements in ASD that are translated into ataxia, abnormal pattern of righting, gait sequencing, development of walking, and hand positioning...
September 8, 2016: L'Encéphale
https://www.readbyqxmd.com/read/27565651/brief-report-initial-trial-of-alpha7-nicotinic-receptor-stimulation-in-two-adult-patients-with-autism-spectrum-disorder
#12
Ann Olincy, Audrey Blakeley-Smith, Lynn Johnson, William R Kem, Robert Freedman
Abnormalities in CHRNA7, the alpha7-nicotinic receptor gene, have been reported in autism spectrum disorder. These genetic abnormalities potentially decrease the receptor's expression and diminish its functional role. This double-blind, placebo-controlled crossover study in two adult patients investigated whether an investigational receptor-specific partial agonist drug would increase the inhibitory functions of the gene and thereby increase patients' attention. An electrophysiological biomarker, P50 inhibition, verified the intended neurobiological effect of the agonist, and neuropsychological testing verified a primary cognitive effect...
December 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27562614/developmental-profiling-of-asd-related-shank3-transcripts-and-their-differential-regulation-by-valproic-acid-in-zebrafish
#13
Chun-Xue Liu, Xiao-Lan Peng, Chun-Chun Hu, Chun-Yang Li, Qiang Li, Xiu Xu
SHANK3 is a scaffolding protein that binds to various synaptic proteins at the postsynaptic density (PSD) of excitatory glutamatergic synapses. SHANK3 is not only strongly implicated in autism spectrum disorders (ASD) but also plays a critical role in human Phelan-McDermid syndrome (22q13.3 deletion syndrome). Accumulated experimental evidence demonstrates that the zebrafish model system is useful for studying the functions of ASD-related gene during early development. However, many basic features of shank3 transcript expression in zebrafish remain poorly understood...
November 2016: Development Genes and Evolution
https://www.readbyqxmd.com/read/27562096/treatment-of-autistic-spectrum-disorder-with-insulin-like-growth-factors
#14
Raili Riikonen
There are no treatments for the core symptoms of autistic spectrum disorder (ASD), but there is now more knowledge on emerging mechanisms and on mechanism-based therapies. In autism there are altered synapses: genes affected are commonly related to synaptic and immune function. Dysregulation of activity-dependent signaling networks may have a key role the etiology of autism. There is an over-activation of IGF-AKT-mTor in autism spectrum disorders. Morphological and electro-physiological defects of the cerebellum are linked to system-wide ASD-like behavior defects...
December 0: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27458342/function-over-form-modeling-groups-of-inherited-neurological-conditions-in-zebrafish
#15
REVIEW
Robert A Kozol, Alexander J Abrams, David M James, Elena Buglo, Qing Yan, Julia E Dallman
Zebrafish are a unique cell to behavior model for studying the basic biology of human inherited neurological conditions. Conserved vertebrate genetics and optical transparency provide in vivo access to the developing nervous system as well as high-throughput approaches for drug screens. Here we review zebrafish modeling for two broad groups of inherited conditions that each share genetic and molecular pathways and overlap phenotypically: neurodevelopmental disorders such as Autism Spectrum Disorders (ASD), Intellectual Disability (ID) and Schizophrenia (SCZ), and neurodegenerative diseases, such as Cerebellar Ataxia (CATX), Hereditary Spastic Paraplegia (HSP) and Charcot-Marie Tooth Disease (CMT)...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27445731/multiple-drug-treatments-that-increase-camp-signaling-restore-long-term-memory-and-aberrant-signaling-in-fragile-x-syndrome-models
#16
Catherine H Choi, Brian P Schoenfeld, Aaron J Bell, Joseph Hinchey, Cory Rosenfelt, Michael J Gertner, Sean R Campbell, Danielle Emerson, Paul Hinchey, Maria Kollaros, Neal J Ferrick, Daniel B Chambers, Steven Langer, Steven Sust, Aatika Malik, Allison M Terlizzi, David A Liebelt, David Ferreiro, Ali Sharma, Eric Koenigsberg, Richard J Choi, Natalia Louneva, Steven E Arnold, Robert E Featherstone, Steven J Siegel, R Suzanne Zukin, Thomas V McDonald, Francois V Bolduc, Thomas A Jongens, Sean M J McBride
Fragile X is the most common monogenic disorder associated with intellectual disability (ID) and autism spectrum disorders (ASD). Additionally, many patients are afflicted with executive dysfunction, ADHD, seizure disorder and sleep disturbances. Fragile X is caused by loss of FMRP expression, which is encoded by the FMR1 gene. Both the fly and mouse models of fragile X are also based on having no functional protein expression of their respective FMR1 homologs. The fly model displays well defined cognitive impairments and structural brain defects and the mouse model, although having subtle behavioral defects, has robust electrophysiological phenotypes and provides a tool to do extensive biochemical analysis of select brain regions...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27430727/the-autism-related-gene-snrpn-regulates-cortical-and-spine-development-via-controlling-nuclear-receptor-nr4a1
#17
Huiping Li, Pingping Zhao, Qiong Xu, Shifang Shan, Chunchun Hu, Zilong Qiu, Xiu Xu
The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene, encoding the RNA-associated SmN protein, duplications or deletions of which are strongly associated with neurodevelopmental disabilities. SNRPN-coding protein is highly expressed in the brain. However, the role of SNRPN protein in neural development remains largely unknown. Here we showed that the expression of SNRPN increased markedly during postnatal brain development. Overexpression or knockdown of SNRPN in cortical neurons impaired neurite outgrowth, neuron migration, and the distribution of dendritic spines...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27422057/establishment-of-reporter-lines-for-detecting-fragile-x-mental-retardation-fmr1-gene-reactivation-in-human-neural-cells
#18
Meng Li, Huashan Zhao, Gene E Ananiev, Michael Musser, Kathryn H Ness, Dianne L Maglaque, Krishanu Saha, Anita Bhattacharyya, Xinyu Zhao
Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique opportunities for disease modeling and drug development. However, adapting hiPSCs or their differentiated progenies to high throughput assays for phenotyping or drug screening has been challenging. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic cause of autism. FXS is caused by mutational trinucleotide expansion in the FMR1 gene leading to hypermethylation and gene silencing...
July 16, 2016: Stem Cells
https://www.readbyqxmd.com/read/27403908/-evaluation-of-repetitive-transcranial-magnetic-stimulation-effectiveness-in-treatment-of-psychiatric-and-neurologic-diseases
#19
REVIEW
Żanna Pastuszak, Anna Stępień, Renata Piusińska-Macoch, Bogdan Brodacki, Kazimierz Tomczykiewicz
Repetitive transcranial magnetic stimulation (rTMS) is a treatment option with proved effectiveness especially in drug resist depression. It is used in functional brain mapping before neurosurgery operations and diagnostic of corticospinal tract transmission. Many studies are performed to evaluate rTMS using in treatment of obsessive - compulsive disorder, schizophrenia, autism, strokes, tinnitus, Alzheimer and Parkinson diseases, cranial traumas. Moreover rTMS was used in treatment of multiple sclerosis, migraine, dystonia...
June 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27345013/fetal-oxidative-stress-mechanisms-of-neurodevelopmental-deficits-and-exacerbation-by-ethanol-and-methamphetamine
#20
REVIEW
Peter G Wells, Shama Bhatia, Danielle M Drake, Lutfiya Miller-Pinsler
In utero exposure of mouse progeny to alcohol (ethanol, EtOH) and methamphetamine (METH) causes substantial postnatal neurodevelopmental deficits. One emerging pathogenic mechanism underlying these deficits involves fetal brain production of reactive oxygen species (ROS) that alter signal transduction, and/or oxidatively damage cellular macromolecules like lipids, proteins, and DNA, the latter leading to altered gene expression, likely via non-mutagenic mechanisms. Even physiological levels of fetal ROS production can be pathogenic in biochemically predisposed progeny, and ROS formation can be enhanced by drugs like EtOH and METH, via activation/induction of ROS-producing NADPH oxidases (NOX), drug bioactivation to free radical intermediates by prostaglandin H synthases (PHS), and other mechanisms...
June 2016: Birth Defects Research. Part C, Embryo Today: Reviews
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