Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo

[1]  M. Trnka,et al.  Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants , 2022, The Journal of biological chemistry.

[2]  P. Striano,et al.  Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies , 2021, Cells.

[3]  Oriol Vinyals,et al.  Highly accurate protein structure prediction with AlphaFold , 2021, Nature.

[4]  F. Kortüm,et al.  More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly , 2021, neurogenetics.

[5]  A. Koleske,et al.  Trio family proteins as regulators of cell migration and morphogenesis in development and disease – mechanisms and cellular contexts , 2021, Journal of Cell Science.

[6]  N. Inagaki,et al.  Forces to Drive Neuronal Migration Steps , 2020, Frontiers in Cell and Developmental Biology.

[7]  K. Roche,et al.  Kalirin and Trio: RhoGEFs in Synaptic Transmission, Plasticity, and Complex Brain Disorders , 2020, Trends in Neurosciences.

[8]  J. Hehir-Kwa,et al.  Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders , 2020, American journal of human genetics.

[9]  J. Graham,et al.  De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures , 2019, Brain : a journal of neurology.

[10]  S. Carr,et al.  Trio Haploinsufficiency Causes Neurodevelopmental Disease–Associated Deficits , 2019, Cell reports.

[11]  Silvio C. E. Tosatto,et al.  Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing , 2019, bioRxiv.

[12]  G. Koenderink,et al.  Actin–microtubule crosstalk in cell biology , 2018, Nature Reviews Molecular Cell Biology.

[13]  Kerstin Kutsche,et al.  Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. , 2018, American journal of human genetics.

[14]  A. Vercelli,et al.  Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamics , 2018, Scientific Reports.

[15]  R. Mains,et al.  Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity , 2017, Human molecular genetics.

[16]  Vsevolod Katritch,et al.  An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio , 2017, Nature Communications.

[17]  D. Baralle,et al.  Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly , 2016, Journal of Medical Genetics.

[18]  R. Delorme,et al.  Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism , 2016, Molecular Psychiatry.

[19]  L. Vissers,et al.  TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. , 2016, Human molecular genetics.

[20]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[21]  Tingting Zhang,et al.  Trio gene is required for mouse learning ability , 2015, Brain Research.

[22]  Benjamin Feldman,et al.  Increased functional protein expression using nucleotide sequence features enriched in highly expressed genes in zebrafish , 2015, Nucleic acids research.

[23]  B. Delaval,et al.  Identification of a mitotic Rac-GEF, Trio, that counteracts MgcRacGAP function during cytokinesis , 2014, Molecular biology of the cell.

[24]  Boris Yamrom,et al.  The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.

[25]  A. Debant,et al.  Function and regulation of the Rho guanine nucleotide exchange factor Trio , 2014, Small GTPases.

[26]  N. Galjart,et al.  Dynamic Microtubules Catalyze Formation of Navigator-TRIO Complexes to Regulate Neurite Extension , 2014, Current Biology.

[27]  T. Gómez,et al.  Actin dynamics in growth cone motility and navigation , 2014, Journal of neurochemistry.

[28]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[29]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[30]  Pei-Hsin Huang,et al.  Disrupted-in-Schizophrenia 1–mediated axon guidance involves TRIO-RAC-PAK small GTPase pathway signaling , 2011, Proceedings of the National Academy of Sciences.

[31]  E. Giniger,et al.  Noncanonical notch function in motor axon guidance is mediated by Rac GTPase and the GEF1 domain of trio , 2011, Developmental dynamics : an official publication of the American Association of Anatomists.

[32]  A. Debant,et al.  Kidins220/ARMS regulates Rac1-dependent neurite outgrowth by direct interaction with the RhoGEF Trio , 2010, Journal of Cell Science.

[33]  A. Hall,et al.  Rho and Ras GTPases in axon growth, guidance, and branching. , 2010, Cold Spring Harbor perspectives in biology.

[34]  Farida Korobova,et al.  Arp2/3 complex is important for filopodia formation, growth cone motility, and neuritogenesis in neuronal cells. , 2008, Molecular biology of the cell.

[35]  J. Sondek,et al.  The DH and PH domains of Trio coordinately engage Rho GTPases for their efficient activation. , 2007, Journal of molecular biology.

[36]  L. Van Aelst,et al.  The role of the Rho GTPases in neuronal development. , 2005, Genes & development.

[37]  S. Estrach,et al.  Different regulation of the Trio Dbl‐Homology domains by their associated PH domains , 2003, Biology of the cell.

[38]  E. Lundquist,et al.  The actin-binding protein UNC-115 is an effector of Rac signaling during axon pathfinding in C. elegans , 2003, Development.

[39]  Cori Bargmann,et al.  Three C. elegans Rac proteins and several alternative Rac regulators control axon guidance, cell migration and apoptotic cell phagocytosis. , 2001, Development.

[40]  S. O’Brien,et al.  Skeletal muscle deformity and neuronal disorder in Trio exchange factor-deficient mouse embryos. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[41]  A. Debant,et al.  The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

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