Joseph Gleeson

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
    Teruyuki Tanaka
    Department of Neurosciences, University of California, San Diego, La Jolla 92093 0624, USA
    J Cell Biol 165:709-21. 2004
  2. pmc Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
    Stephanie L Bielas
    Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, USA
    Nat Genet 41:1032-6. 2009
  3. pmc AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
    Carrie M Louie
    Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA
    Nat Genet 42:175-80. 2010
  4. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
  5. pmc CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
    Ji Eun Lee
    Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California, USA
    Nat Genet 44:193-9. 2012
  6. pmc Subcellular spatial regulation of canonical Wnt signalling at the primary cilium
    Madeline A Lancaster
    Laboratory for Neurogenetics, Howard Hughes Medical Institute, Biomedical Sciences Program, Department of Neurosciences, LBR 3A16, 9500 Gilman Drive, University of California, San Diego, La Jolla, California 92093 0691, USA
    Nat Cell Biol 13:700-7. 2011
  7. pmc Functional genomic screen for modulators of ciliogenesis and cilium length
    Joon Kim
    Department of Neurosciences, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, California 92093, USA
    Nature 464:1048-51. 2010
  8. pmc Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
    Madeline A Lancaster
    Laboratory for Neurogenetics, Howard Hughes Medical Institutes, Department of Pediatrics and Neurosciences, Institute for Genomic Medicine, University of California, San Diego, San Diego, California, USA
    Nat Med 17:726-31. 2011
  9. pmc A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
    Bassam R Ali
    Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, P, O, Box 17666, Al Ain, United Arab Emirates
    Orphanet J Rare Dis 7:27. 2012
  10. pmc A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
    Bassam R Ali
    Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
    BMC Med Genet 13:80. 2012

Research Grants

  1. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2010
  2. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2009
  3. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2002
  4. U of Calif, San Diego Neuroscience Microscopy Imaging
    Joseph Gleeson; Fiscal Year: 2007
  5. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2009
  6. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2009
  7. Doublecortin In Neuronal Migration
    Joseph G Gleeson; Fiscal Year: 2010
  8. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2007
  9. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2007
  10. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2007

Detail Information

Publications56

  1. pmc Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
    Teruyuki 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...
  2. pmc Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
    Stephanie L Bielas
    Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, USA
    Nat Genet 41:1032-6. 2009
    ..These data link PtdIns signaling to the primary cilium, a cellular structure that is becoming increasingly recognized for its role in mediating cell signals and neuronal function...
  3. pmc AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
    Carrie M Louie
    Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA
    Nat Genet 42:175-80. 2010
    ..Our data support context-specific roles for AHI1 as a contributor to retinopathy and show that AHI1 may explain a proportion of the variability in retinal phenotypes observed in nephronophthisis...
  4. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    ..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
  5. pmc CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
    Ji Eun Lee
    Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California, USA
    Nat Genet 44:193-9. 2012
    ..Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction...
  6. pmc Subcellular spatial regulation of canonical Wnt signalling at the primary cilium
    Madeline A Lancaster
    Laboratory for Neurogenetics, Howard Hughes Medical Institute, Biomedical Sciences Program, Department of Neurosciences, LBR 3A16, 9500 Gilman Drive, University of California, San Diego, La Jolla, California 92093 0691, USA
    Nat Cell Biol 13:700-7. 2011
    ..Together these data explain a spatial mechanism of Wnt signalling regulation that may provide insight into ciliary regulation of other signalling pathways...
  7. pmc Functional genomic screen for modulators of ciliogenesis and cilium length
    Joon Kim
    Department of Neurosciences, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, California 92093, USA
    Nature 464:1048-51. 2010
    ..Our results uncover a critical regulatory step that couples actin dynamics and endocytic recycling with ciliogenesis, and also provides potential target molecules for future study...
  8. pmc Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
    Madeline A Lancaster
    Laboratory for Neurogenetics, Howard Hughes Medical Institutes, Department of Pediatrics and Neurosciences, Institute for Genomic Medicine, University of California, San Diego, San Diego, California, USA
    Nat Med 17:726-31. 2011
    ..Our findings implicate a defect in Wnt signaling in the cerebellar midline phenotype seen in Joubert syndrome that can be overcome with Wnt stimulation...
  9. pmc A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
    Bassam R Ali
    Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, P, O, Box 17666, Al Ain, United Arab Emirates
    Orphanet J Rare Dis 7:27. 2012
    ..We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26...
  10. pmc A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
    Bassam R Ali
    Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
    BMC Med Genet 13:80. 2012
    ..Quadrupedal locomotion in this syndrome has been reported in association with mutations in all three genes...
  11. ncbi request reprint Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
    Fernando 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...
  12. pmc Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity
    Margaret 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...
  13. pmc Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
    J 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...
  14. ncbi request reprint Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
    Joseph 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...
  15. pmc A systems-biology approach to understanding the ciliopathy disorders
    Ji 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
    ....
  16. ncbi request reprint Neuronal migration disorders
    J 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
    ....
  17. ncbi request reprint Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin
    J 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...
  18. pmc Cystic kidney disease: the role of Wnt signaling
    Madeline 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...
  19. ncbi request reprint Cortical neuronal migration mutants suggest separate but intersecting pathways
    Stephanie 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...
  20. pmc Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
    JOHN F O'TOOLE
    Department of Pediatrics, University of Michigan, Ann Arbor, 48109 5646, USA
    J Clin Invest 120:791-802. 2010
    ..Our data highlight an emerging link between mitochondria and ciliary dysfunction, and suggest that further understanding the enzymatic activity and substrates of XPNPEP3 will illuminate novel cystogenic pathways...
  21. ncbi request reprint Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly
    Geraldine 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...
  22. ncbi request reprint Cytoskeletal-associated proteins in the migration of cortical neurons
    Stephanie 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...
  23. ncbi request reprint Multiple dose-dependent effects of Lis1 on cerebral cortical development
    Michael 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...
  24. ncbi request reprint GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization
    Holden 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...
  25. pmc Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
    Vincent 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...
  26. ncbi request reprint Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration
    Hiroyuki 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...
  27. pmc Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
    Tracy 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...
  28. ncbi request reprint A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration
    Geraldine Kerjan
    Neurogenetics Laboratory, Department of Neurosciences, University of California at San Diego, La Jolla, California 92093, USA
    Genes Dev 21:2850-4. 2007
  29. ncbi request reprint Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration
    Teruyuki 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...
  30. pmc Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures
    Geraldine 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...
  31. pmc SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
    Vincent 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...
  32. ncbi request reprint Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts
    Sarah 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...
  33. pmc The role of primary cilia in neuronal function
    Jeong 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...
  34. ncbi request reprint Nucleokinesis in neuronal migration
    Li 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...
  35. ncbi request reprint The centrosome in neuronal development
    Holden 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...
  36. ncbi request reprint The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development
    Teruyuki 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...
  37. ncbi request reprint Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain
    Hiroyuki 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...
  38. pmc The molecular and genetic mechanisms of neocortex development
    Alejandro 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...
  39. pmc Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families
    R 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...
  40. pmc Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
    Lesley 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...
  41. ncbi request reprint Autism in several members of a family with generalized epilepsy with febrile seizures plus
    Tracy 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...
  42. pmc Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
    Madeline 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...
  43. ncbi request reprint Genetic basis of Joubert syndrome and related disorders of cerebellar development
    Carrie 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...
  44. pmc Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist
    Stephanie 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...
  45. ncbi request reprint Classifying a novel brain malformation
    Mary J Harbert
    Laboratory for Neurogenetics, Department of Neurosciences, University of California San Diego, San Diego, California, USA
    Brain 130:2242-4. 2007
  46. ncbi request reprint Distinguishing the four genetic causes of Jouberts syndrome-related disorders
    Enza 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...
  47. ncbi request reprint Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Maria 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...
  48. ncbi request reprint Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement
    Gundela 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...
  49. pmc Coupling of cell migration with neurogenesis by proneural bHLH factors
    Weihong 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...
  50. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco 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...
  51. pmc Cerebellar development and disease
    Kathleen 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...
  52. ncbi request reprint Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
    Enza 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...
  53. ncbi request reprint AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
    Enza 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...
  54. pmc The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
    Melissa 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...
  55. ncbi request reprint Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
    Maha 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...
  56. ncbi request reprint Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning
    Tianzhi 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...

Research Grants27

  1. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph 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. ..
  2. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2009
    ..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. ..
  3. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2002
    ..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 ..
  4. U of Calif, San Diego Neuroscience Microscopy Imaging
    Joseph Gleeson; Fiscal Year: 2007
    ..abstract_text> ..
  5. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2009
    ..This study seeks to identify the function the family of doublecortin genes using advanced molecular and cellular approaches. ..
  6. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2009
    ..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. ..
  7. Doublecortin In Neuronal Migration
    Joseph 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. ..
  8. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2007
    ..This study seeks to identify the function the family of doublecortin genes using advanced molecular and cellular approaches. ..
  9. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2007
    ....
  10. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph 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. ..
  11. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2003
    ..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 ..
  12. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2004
    ....
  13. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2004
    ..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 ..
  14. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2005
    ....
  15. Advances in Midbrain/Hindbrain Malformations
    Joseph 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. ..
  16. Molecular Characterization of Joubert Syndrome
    Joseph Gleeson; Fiscal Year: 2006
    ....
  17. Doublecortin In Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2006
    ..This study seeks to identify the function the family of doublecortin genes using advanced molecular and cellular approaches. ..
  18. Patient-Oriented Research in Recessive Pediatric Brain Diseases
    Joseph Gleeson; Fiscal Year: 2007
    ....
  19. Molecular Characterization of Joubert Syndrome
    Joseph 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. ..
  20. Molecular Mechanisms of Neuronal Migration
    Joseph 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. ..
  21. Doublecortin In Neuronal Migration
    Joseph 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 ..