Research Topics
| Joseph GleesonSummaryAffiliation: University of California Country: USA Publications
Research Grants
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Detail Information
Publications
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeFernando Jose Martinez
Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA
J Med Genet 49:380-5. 2012..Over 140 cases have been reported, but the genetic basis is not understood...
Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificityMargaret T Butko
Department of Neuroscience and Biomedical Graduate Program, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA
BMC Biotechnol 11:20. 2011..Currently, most multi-color MPM relies on the absorbance at one intermediate wavelength of multiple dyes, which introduces problems such as decreased and unequal excitation efficiency across the set of dyes...
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromesJoseph G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
Am J Med Genet A 125:125-34; discussion 117. 2004..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes...- Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypesJ G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California at San Diego, La Jolla, CA, 92093, USA
Am J Hum Genet 67:574-81. 2000..The high rate of mosaicism indicates that there may be a significant recurrence risk for DC/XLIS in families at risk, even when the mother is unaffected... - A systems-biology approach to understanding the ciliopathy disordersJi Eun Lee
Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neuroscience and Pediatrics, University of California, San Diego 92093 0691, USA
Genome Med 3:59. 2011.... - Neuronal migration disordersJ G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, La Jolla, California 92093 0624, USA
Ment Retard Dev Disabil Res Rev 7:167-71. 2001.... - Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortinJ G Gleeson
Department of Neurosciences, University of California, San Diego, La Jolla 92093 0624, USA
Curr Opin Neurol 13:121-5. 2000..Mutation analysis for LIS1 and doublecortin is essential in determining the etiology of the disease in patients and may be helpful in determining the recurrence risk in families... - Cystic kidney disease: the role of Wnt signalingMadeline A Lancaster
Biomedical Sciences Program, Howard Hughes Medical Institutes, Department of Neurosciences, University of California, San Diego, USA
Trends Mol Med 16:349-60. 2010..Recent evidence implicates canonical and noncanonical Wnt pathways in cyst formation and points to a remarkable role for developmental processes in the adult kidney... - Cortical neuronal migration mutants suggest separate but intersecting pathwaysStephanie Bielas
Neurogenetics Laboratory, Department of Neurosciences, University of California San Diego, La Jolla, CA 92093 0624, USA
Annu Rev Cell Dev Biol 20:593-618. 2004..There is significant cross-talk among these different groups of molecules, suggesting possible points of pathway convergence... - Cytoskeletal-associated proteins in the migration of cortical neuronsStephanie L Bielas
Neurobiology Section, Division of Biological Sciences, University of California, San Diego, La Jolla, California 92093, USA
J Neurobiol 58:149-59. 2004..We review key cytoskeletal events and the critical cytoskeletal-associated proteins involved in cortical neuronal migration... - Genetic mechanisms underlying abnormal neuronal migration in classical lissencephalyGeraldine Kerjan
Neurogenetics Laboratory, Department of Neurosciences, LBR3A16, UCSD School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
Trends Genet 23:623-30. 2007..These approaches have implicated genes that regulate the microtubule cytoskeleton during neuronal division, migration and maturation... - Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migrationHiroyuki Koizumi
Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, La Jolla, California 93093, USA
Neuron 49:55-66. 2006..Surprisingly, RNAi-mediated knockdown of either gene results in similar migration defects. These results indicate the Dcx microtubule-associated protein family is required for proper neuronal migration and axonal wiring... - Multiple dose-dependent effects of Lis1 on cerebral cortical developmentMichael J Gambello
Department of Pediatrics and Medicine, University of California, San Diego, La Jolla, California 92093 0627, USA
J Neurosci 23:1719-29. 2003..These studies reveal the importance of LIS1 levels in orderly cerebral cortical morphogenesis and suggest new insights into the pathogenesis of type I lissencephaly... - A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migrationGeraldine Kerjan
Neurogenetics Laboratory, Department of Neurosciences, University of California at San Diego, La Jolla, California 92093, USA
Genes Dev 21:2850-4. 2007 - Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel
Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
Am J Hum Genet 83:170-9. 2008..Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs... - GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarizationHolden Higginbotham
Biomedical Sciences Graduate Program, University of California, San Diego, CA 92093 0691, USA
Mol Cell Neurosci 32:118-32. 2006..Our findings suggest that activation of cell polarity signaling and positioning of the centrosome ahead of the nucleus are important steps in repolarization in response to guidance cues... - Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migrationTeruyuki Tanaka
Department of Neurosciences, University of California, San Diego, La Jolla, 92093, USA
Neuron 41:215-27. 2004..These results suggest that Dcx phosphorylation by Cdk5 regulates its actions on migration through an effect on microtubules... - Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar
Laboratory for Neurogenetics, Department of Neurosciences, University of California San Diego, La Jolla, CA 92093 0691, USA
Am J Hum Genet 75:979-87. 2004..The recently described mutations in NPHP1, encoding a protein containing an SH3 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway... - Neuroepithelial cysts in a patient with Joubert syndrome plus renal cystsSarah E Marsh
Department of Neurosciences, University of California, San Diego, USA
J Child Neurol 19:227-31. 2004..Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts... - Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizuresGeraldine Kerjan
Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 106:6766-71. 2009..These data suggest that hippocampal dysmaturation and insufficient receptive field for inhibitory input may underlie the epilepsy in lissencephaly, and suggest potential therapeutic strategies for controlling epilepsy in these patients... - The centrosome in neuronal developmentHolden R Higginbotham
Biomedical Sciences Graduate Program, Department of Neurosciences, University of California, LBR 3A16, 9500 Gilman Drive, La Jolla, CA 92093, USA
Trends Neurosci 30:276-83. 2007..Here, we review recent advances in the understanding of this interesting organelle and propose a model whereby centrosome position, determined by extracellular factors, directs multiple aspects of neuronal development... - The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal developmentTeruyuki Tanaka
Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, CA, USA
Cereb Cortex 16:i69-73. 2006..These results suggest these genes are partially functionally redundant in the formation of the murine hippocampus... - Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrainHiroyuki Koizumi
Neurogenetics Laboratory, Department of Neurosciences, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA
Nat Neurosci 9:779-86. 2006..DCX is required for nuclear translocation and maintenance of bipolar morphology during migration of these cells. Our data identifies a critical function for DCX in the movement of newly generated neurons in the adult brain... - The molecular and genetic mechanisms of neocortex developmentAlejandro L Diaz
Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Pediatrics and Neurosciences, University of California, San Diego, Leichtag Biomedical Research Building, Room 482, 9500 Gilman Drive, La Jolla, CA 92093 0665, USA
Clin Perinatol 36:503-12. 2009..Along with this update, work is highlighted that offers a glimpse at the future of therapy for developmental brain disorders that can result from disorders of these cellular events... - Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migrationTeruyuki Tanaka
Department of Neurosciences, University of California, San Diego, La Jolla 92093 0624, USA
J Cell Biol 165:709-21. 2004..These data indicate Lis1 and Dcx function with dynein to mediate N-C coupling during migration, and suggest defects in this coupling may contribute to migration defects in lissencephaly... - The role of primary cilia in neuronal functionJeong Ho Lee
Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA 92093 0665, USA
Neurobiol Dis 38:167-72. 2010..Based upon the clinical features of ciliopathies and cilia mediated signaling pathways, the data support a role for the primary cilium in modulating neurogenesis, cell polarity, axonal guidance and possibly adult neuronal function... - Nucleokinesis in neuronal migrationLi Huei Tsai
Department of Pathology, Harvard Medical School, Howard Hughes Medical Institute, 77 Avenue Louis Pasteur, Room 858C, Boston, Massachusetts 02115, USA
Neuron 46:383-8. 2005..The positioning of the centrosome and the dynamic regulation that couples and uncouples the nucleus underlies directed migration of neurons... - SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel
Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA
Cell 142:203-17. 2010..Our results thus suggest that SRD5A3 is likely to be the long-sought polyprenol reductase and reveal the genetic basis of one of the earliest steps in protein N-linked glycosylation... - Distinguishing 3 classes of corpus callosal abnormalities in consanguineous familiesR M Hanna
Department of Neurosciences and Pediatrics, Rady Children s Hospital, Howard Hughes Medical Institute, San Diego, CA, USA
Neurology 76:373-82. 2011..We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease... - Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster
Biomedical Sciences Program and Departments of Pediatrics and Medicine, University of California San Diego UCSD, La Jolla, California, USA
Nat Med 15:1046-54. 2009..Finally, we show that Jbn is required in vivo for a Wnt response to injury and renal tubule repair, the absence of which triggers cystogenesis... - Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3Lesley C Keeler
Neurogenetics Laboratory, Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, CA, USA
Am J Hum Genet 73:656-62. 2003..We suggest the term "CORS2" for this new locus... - Autism in several members of a family with generalized epilepsy with febrile seizures plusTracy J Dixon-Salazar
Division of Biological Sciences, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0624, USA
J Child Neurol 19:597-603. 2004..A relationship between these two disorders has not previously been described... - Classifying a novel brain malformationMary J Harbert
Laboratory for Neurogenetics, Department of Neurosciences, University of California-San Diego, San Diego, California, USA
Brain 130:2242-4. 2007 - Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wristStephanie L Bielas
Neurobiology Section, Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA
Cell 129:579-91. 2007..These findings suggest that spatially restricted adaptor-specific MAP reactivation through dephosphorylation is important in organization of the neuronal cytoskeleton... - Genetic basis of Joubert syndrome and related disorders of cerebellar developmentCarrie M Louie
Biomedical Sciences Graduate Program, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0691, USA
Hum Mol Genet 14:R235-42. 2005..The data suggest a tantalizing connection between intraflagellar transport in cilia and brain development... - Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino
Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
Brain 125:2507-22. 2002..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes... - Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movementGundela Meyer
Department of Anatomy, Faculty of Medicine, University La Laguna, La Laguna Tenerife, Spain
Cereb Cortex 12:1225-36. 2002..DCX was expressed by cells in all regions, but in extremely low numbers, suggesting that LIS1 deficiency adversely affects the migration and differentiation of DCX- and Reelin-positive neurons... - Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente
IRCCS CSS, Mendel Institute, Rome, Italy
Ann Neurol 57:513-9. 2005..This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications... - Coupling of cell migration with neurogenesis by proneural bHLH factorsWeihong Ge
Mental Retardation Research Center, Dept of Psychiatry and Biobehavioral Sciences, Neuropsychiatric Institute, David Geffen School of Medicine, University of California Los Angeles, 635 Charles E Young Drive South, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 103:1319-24. 2006..Collectively, these data suggest that transcription programs for neurogenesis and migration are regulated by bHLH factors through partially distinct mechanisms... - Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioningTianzhi Shu
Department of Pathology, Harvard Medical School and Howard Hughes Medical Institute, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Neuron 44:263-77. 2004..These results provide strong evidence that Ndel1 interacts with LIS1 to sustain the function of dynein, which in turn impacts microtubule organization, nuclear translocation, and neuronal positioning... - AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente
Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy
Ann Neurol 59:527-34. 2006..The frequency of mutations in the first positionally cloned gene, AHI1, is unknown... - Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente
Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
Nat Genet 38:623-5. 2006..CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies... - Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocationMaha Zaki
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
Am J Med Genet A 143:939-44. 2007..A disruption of RELN at 7q22.1 with absence of encoded protein was identified. This is the first demonstration that such rare homozygous translocations can be used to identify recessive disease gene mutations... - CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies... - Cerebellar development and diseaseKathleen J Millen
Department of Human Genetics, University of Chicago, Cummings Life Sciences Center 319, Chicago, IL 60637, USA
Curr Opin Neurobiol 18:12-9. 2008..Together, mouse and human studies are synergistically advancing our understanding of the developmental mechanisms that generate the uniquely complex mature cerebellum... - The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndromeMelissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, 98195, USA
Am J Hum Genet 75:82-91. 2004..Cerebellar malformations consistent with the MTS may be relatively common in patients with juvenile NPHP without classic symptoms of JS...
Research Grants
- Doublecortin In Neuronal MigrationJoseph Gleeson; Fiscal Year: 2009..This study seeks to identify the function the family of doublecortin genes using advanced molecular and cellular approaches. ..
- Doublecortin In Neuronal MigrationJoseph G Gleeson; Fiscal Year: 2010..We will study the signaling mechanisms of the doublecortin gene family, in order to understand the basis of these human diseases. ..
- Jouberin and Nephrocystin in Joubert SyndromeJoseph G Gleeson; Fiscal Year: 2010..3. We will analyze the brain phenotype of mice with targeted deletions of each gene to test whether these pathways regulate cerebella granule neuron proliferation and axon guidance. ..
- U of Calif, San Diego Neuroscience Microscopy ImagingJoseph Gleeson; Fiscal Year: 2007..abstract_text> ..
- Doublecortin In Neuronal MigrationJoseph Gleeson; Fiscal Year: 2007..This study seeks to identify the function the family of doublecortin genes using advanced molecular and cellular approaches. ..
- Molecular Characterization of Joubert SyndromeJoseph Gleeson; Fiscal Year: 2007....
- Doublecortin In Neuronal MigrationJoseph Gleeson; Fiscal Year: 2005..Determine whether DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3. Determine whether the function of DCX in neuronal migration is regulated by cdk5 ..
- Molecular Mechanisms of Neuronal MigrationJoseph Gleeson; Fiscal Year: 2006..2) DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3) DCX is regulated by cdk5 during neuronal migration. ..
- Advances in Midbrain/Hindbrain MalformationsJoseph Gleeson; Fiscal Year: 2005..The information content will be made available on the Internet. Thus this Meeting will serve as a resource for both the scientific and lay community throughout the world. ..
- Patient-Oriented Research in Recessive Pediatric Brain DiseasesJoseph Gleeson; Fiscal Year: 2007....
- Jouberin and Nephrocystin in Joubert SyndromeJoseph Gleeson; Fiscal Year: 2007..3. We will analyze the brain phenotype of mice with targeted deletions of each gene to test whether these pathways regulate cerebella granule neuron proliferation and axon guidance. ..
- Molecular Characterization of Joubert SyndromeJoseph G Gleeson; Fiscal Year: 2010..PUBLIC HEALTH RELEVANCE: Joubert syndrome is a poorly understood cause of impaired coordination and mental retardation in children. This work will identify new genetic causes of disease within a mechanistic framework. ..