16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis

[1]  Kai Yu,et al.  Sex-Specific Stress-Related Behavioral Phenotypes and Central Amygdala Dysfunction in a Mouse Model of 16p11.2 Microdeletion , 2020, bioRxiv.

[2]  H. Sive,et al.  Noninvasive Multielectrode Array for Brain and Spinal Cord Local Field Potential Recordings from Live Zebrafish Larvae , 2020, Zebrafish.

[3]  L. D. Costa,et al.  Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice , 2020, Nature Neuroscience.

[4]  So Hyun Kim,et al.  Language characterization in 16p11.2 deletion and duplication syndromes. , 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[5]  Y. Hérault,et al.  Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models , 2020, bioRxiv.

[6]  L. Henneman,et al.  Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome , 2020, European Journal of Human Genetics.

[7]  R. Peterson,et al.  Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish , 2019, Scientific Reports.

[8]  Jakob Grove,et al.  Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants , 2019, Nature Neuroscience.

[9]  H. Hakonarson,et al.  Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. , 2019, American journal of human genetics.

[10]  W. Chung,et al.  Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication , 2019, Translational Psychiatry.

[11]  P. Thomas,et al.  Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0) , 2019, Nature Protocols.

[12]  R. Gibbs,et al.  SYT1-associated neurodevelopmental disorder: a case series , 2018, Brain : a journal of neurology.

[13]  Jared A. Nielsen,et al.  Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study , 2018, Biological Psychiatry.

[14]  R. Kuzniecky,et al.  Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome , 2018, Cerebral cortex.

[15]  J. Nance,et al.  Extracellular vesicle budding is inhibited by redundant regulators of TAT-5 flippase localization and phospholipid asymmetry , 2018, Proceedings of the National Academy of Sciences.

[16]  E. Wolvetang,et al.  Neuronal Lipid Metabolism: Multiple Pathways Driving Functional Outcomes in Health and Disease , 2018, Front. Mol. Neurosci..

[17]  Michelle K. Cahill,et al.  Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. , 2017, Cell Reports.

[18]  D. Dickman,et al.  Extended Synaptotagmin Localizes to Presynaptic ER and Promotes Neurotransmission and Synaptic Growth in Drosophila , 2017, Genetics.

[19]  H. Sive,et al.  The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes , 2017, Human molecular genetics.

[20]  Richard D Emes,et al.  Evolution of complexity in the zebrafish synapse proteome , 2017, Nature Communications.

[21]  Wei Xu,et al.  Synaptotagmin-1- and Synaptotagmin-7-Dependent Fusion Mechanisms Target Synaptic Vesicles to Kinetically Distinct Endocytic Pathways , 2017, Neuron.

[22]  M. Kraft.  Sphingolipid Organization in the Plasma Membrane and the Mechanisms That Influence It , 2017, Front. Cell Dev. Biol..

[23]  R. Nixon,et al.  Specialized roles of neurofilament proteins in synapses: Relevance to neuropsychiatric disorders , 2016, Brain Research Bulletin.

[24]  D. Geschwind,et al.  Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders , 2016, Translational psychiatry.

[25]  Hung-Jen Wu,et al.  Binding Cooperativity Matters: A GM1-Like Ganglioside-Cholera Toxin B Subunit Binding Study Using a Nanocube-Based Lipid Bilayer Array , 2016, PloS one.

[26]  Daniel R. Gulbranson,et al.  Extended synaptotagmins are Ca2+-dependent lipid transfer proteins at membrane contact sites , 2016, Proceedings of the National Academy of Sciences.

[27]  J. Littleton,et al.  Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions , 2016, Experimental neurobiology.

[28]  J. Klumperman,et al.  Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth , 2016, Journal of Cell Science.

[29]  A. Reymond,et al.  Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes , 2016, PLoS genetics.

[30]  H. Sive,et al.  Challenges in understanding psychiatric disorders and developing therapeutics: a role for zebrafish , 2015, Disease Models & Mechanisms.

[31]  A. Cheng,et al.  CRISPR–Cas9-mediated genome editing and guide RNA design , 2015, Mammalian Genome.

[32]  Yuichiro Watanabe,et al.  Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population , 2015, PloS one.

[33]  J. Sebat,et al.  Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases , 2015, Neuron.

[34]  N Hadjikhani,et al.  The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity , 2014, Molecular Psychiatry.

[35]  Richard P. Bazinet,et al.  Polyunsaturated fatty acids and their metabolites in brain function and disease , 2014, Nature Reviews Neuroscience.

[36]  Abraham Z. Snyder,et al.  Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers , 2014, The Journal of Neuroscience.

[37]  P. Striano,et al.  Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy , 2014, Annals of neurology.

[38]  Michael Nguyen,et al.  Developing zebrafish models of autism spectrum disorder (ASD) , 2014, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

[39]  E. Lander,et al.  Genetic Screens in Human Cells Using the CRISPR-Cas9 System , 2013, Science.

[40]  G. Daum,et al.  Lipid transport between the endoplasmic reticulum and mitochondria. , 2013, Cold Spring Harbor perspectives in biology.

[41]  E. Fukusaki,et al.  Development of a lipid profiling system using reverse-phase liquid chromatography coupled to high-resolution mass spectrometry with rapid polarity switching and an automated lipid identification software. , 2013, Journal of chromatography. A.

[42]  Le Cong,et al.  Multiplex Genome Engineering Using CRISPR/Cas Systems , 2013, Science.

[43]  Y. Okazaki,et al.  Fam57b (Family with Sequence Similarity 57, Member B), a Novel Peroxisome Proliferator-activated Receptor γ Target Gene That Regulates Adipogenesis through Ceramide Synthesis* , 2012, The Journal of Biological Chemistry.

[44]  Allison G. Dempsey,et al.  A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders , 2012, Journal of Medical Genetics.

[45]  Li-Huei Tsai,et al.  Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex , 2012, Nature Neuroscience.

[46]  A. Merrill,et al.  Modulation of Ceramide Synthase Activity via Dimerization* , 2012, The Journal of Biological Chemistry.

[47]  The Simons,et al.  Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders , 2012, Neuron.

[48]  Shifra Ben-Dor,et al.  Acyl Chain Specificity of Ceramide Synthases Is Determined within a Region of 150 Residues in the Tram-Lag-CLN8 (TLC) Domain* , 2011, The Journal of Biological Chemistry.

[49]  I. Scheffer,et al.  Rare copy number variants are an important cause of epileptic encephalopathies , 2011, Annals of neurology.

[50]  Vasant R. Marur,et al.  Serum lipidomics profiling using LC-MS and high-energy collisional dissociation fragmentation: focus on triglyceride detection and characterization. , 2011, Analytical chemistry.

[51]  A. Lai,et al.  Synaptotagmin 1 Modulates Lipid Acyl Chain Order in Lipid Bilayers by Demixing Phosphatidylserine* , 2011, The Journal of Biological Chemistry.

[52]  M. Ekker,et al.  Modeling Neurodegeneration in Zebrafish , 2011, Current neurology and neuroscience reports.

[53]  Gary D Bader,et al.  Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.

[54]  R. Taguchi,et al.  Precise and global identification of phospholipid molecular species by an Orbitrap mass spectrometer and automated search engine Lipid Search. , 2010, Journal of chromatography. A.

[55]  A. Futerman,et al.  Mammalian ceramide synthases , 2010, IUBMB life.

[56]  M. Ding,et al.  Cullin mediates degradation of RhoA through evolutionarily conserved BTB adaptors to control actin cytoskeleton structure and cell movement. , 2009, Molecular cell.

[57]  W. Han,et al.  Calcium-sensing beyond neurotransmitters: functions of synaptotagmins in neuroendocrine and endocrine secretion. , 2009, Bioscience reports.

[58]  田口 良,et al.  脂質同定システム Lipid Search , 2009 .

[59]  T. Hankemeier,et al.  RPLC-ion-trap-FTMS method for lipid profiling of plasma: method validation and application to p53 mutant mouse model. , 2008, Journal of proteome research.

[60]  Andrei Marconescu,et al.  Coincident exposure of phosphatidylethanolamine and anionic phospholipids on the surface of irradiated cells. , 2008, Biochimica et biophysica acta.

[61]  Joseph A. Gogos,et al.  Strong association of de novo copy number mutations with sporadic schizophrenia , 2008, Nature Genetics.

[62]  T. Südhof,et al.  Synaptotagmin-1 and -7 are functionally overlapping Ca2+ sensors for exocytosis in adrenal chromaffin cells , 2008, Proceedings of the National Academy of Sciences.

[63]  Y. Iwakura,et al.  Kid-Mediated Chromosome Compaction Ensures Proper Nuclear Envelope Formation , 2008, Cell.

[64]  T. Südhof,et al.  Synaptotagmin-1, -2, and -9: Ca2+ Sensors for Fast Release that Specify Distinct Presynaptic Properties in Subsets of Neurons , 2007, Neuron.

[65]  Richard E Thompson,et al.  Abnormalities of cholesterol metabolism in autism spectrum disorders , 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[66]  Michael R. Taylor,et al.  Pentylenetetrazole induced changes in zebrafish behavior, neural activity and c-fos expression , 2005, Neuroscience.

[67]  T. Südhof,et al.  Examining Synaptotagmin 1 Function in Dense Core Vesicle Exocytosis under Direct Control of Ca2+ , 2003, The Journal of general physiology.

[68]  L. Pike.  Lipid rafts Published, JLR Papers in Press, February 1, 2003. DOI 10.1194/jlr.R200021-JLR200 , 2003, Journal of Lipid Research.

[69]  I. Vernos,et al.  Xkid, a Chromokinesin Required for Chromosome Alignment on the Metaphase Plate , 2000, Cell.

[70]  A. Chapelle,et al.  The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 , 1999, Nature Genetics.

[71]  K. Lohner,et al.  Is the high propensity of ethanolamine plasmalogens to form non-lamellar lipid structures manifested in the properties of biomembranes? , 1996, Chemistry and physics of lipids.

[72]  C. Kimmel,et al.  Stages of embryonic development of the zebrafish , 1995, Developmental dynamics : an official publication of the American Association of Anatomists.

[73]  F. Paltauf,et al.  Ether lipids in biomembranes. , 1994, Chemistry and physics of lipids.

[74]  T. Wienker,et al.  Progressive myoclonus epilepsy , 1979, Human Genetics.

[75]  R. Buckner,et al.  Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. , 2018, Radiology.

[76]  J. Rosenfeld,et al.  Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. , 2016, JAMA psychiatry.

[77]  D. Langford,et al.  Considerations for the use of SH-SY5Y neuroblastoma cells in neurobiology. , 2013, Methods in molecular biology.

[78]  Gerd Geisslinger,et al.  Chain length-specific properties of ceramides. , 2012, Progress in lipid research.