Professor, Neurosciences, UCSD School of Medicine

Neurology

Joseph Gleeson works in the field of Neurology. He studied medicine at University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10/19 in Research/PrimaryCare. He received awards:"Investigator". Joseph Gleeson is a published doctor. He has 101 papers published. The most current publication "An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development."

Publications

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• The human gene damage index as a gene-level approach to prioritizing exome variants.
• Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
• An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.
• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
• Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability.
• Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis.
• Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation.
• Pathogenetic mechanisms of focal cortical dysplasia.
• Primary Cilia in the Developing and Mature Brain.
• Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
• CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration.
• Mutations in CSPP1 Lead to Classical Joubert Syndrome.
• Primary cilia in neurodevelopmental disorders.
• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
• The genetic landscape of autism spectrum disorders.
• The sacred disease: the puzzling genetics of epileptic disorders.
• AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder.
• Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
• Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.
• Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities.
• Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
• Can't get there from here: cilia and hydrocephalus.
• Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.
• Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.
• Neurodevelopment and disease.
• De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
• Exome sequencing can improve diagnosis and alter patient management.
• Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
• Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
• New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
• Modeling human disease in humans: the ciliopathies.
• A systems-biology approach to understanding the ciliopathy disorders.
• Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
• The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
• Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
• Function follows form: understanding brain function from a genetic perspective.
• Genetic regulation of human brain development: lessons from Mendelian diseases.
• SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
• The role of primary cilia in neuronal function.
• AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
• Sun proteins enlighten nuclear movement in development.
• The molecular and genetic mechanisms of neocortex development.
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
• Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.
• Familial congenital unilateral Cerebral ventriculomegaly: Delineation of a distinct genetic disorder.
• Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures.
• Moving neurons back into place.
• A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration.
• Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist.
• Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
• The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development.
• Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain.
• GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization.
• Coupling of cell migration with neurogenesis by proneural bHLH factors.
• Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration.
• Nucleokinesis in neuronal migration.
• Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
• Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
• Childhood primary angiitis of the central nervous system: two biopsy-proven cases.
• Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning.
• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
• Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.
• Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
• Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration.
• Cytoskeletal-associated proteins in the migration of cortical neurons.
• Cortical neuronal migration mutants suggest separate but intersecting pathways.
• Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
• Is mental retardation a defect of synapse structure and function?
• Multiple dose-dependent effects of Lis1 on Cerebral cortical development.
• Another double trouble. Silent carriers of doublecortin mutations.
• Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement.
• Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
• Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity.
• Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.
• A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
• Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
• Cystic kidney disease: the role of Wnt signaling.
• Expanding CEP290 mutational spectrum in ciliopathies.
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
• Functional genomic screen for modulators of ciliogenesis and cilium length.
• Aurora A moonlights in neurite extension.
• The primary cilium as a cellular signaling center: lessons from disease.
• Cerebellar development and disease.
• The centrosome in neuronal development.
• Stems cells and regeneration: special review issue.
• Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
• CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
• Association of common variants in the Joubert syndrome gene (AHI1) with autism.
• Subcortical laminar (band) heterotopia.
• MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
• Classifying a novel brain malformation.
• Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
• AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
• Genetic basis of Joubert syndrome and related disorders of cerebellar development.
• Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells.

Schools

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• University Of ChicagoThe Pritzker School Of Medicine

• Children39s Hospital

Conditions Treated

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• Cerebral Palsy
• Dystonia
• Epilepsy
• Tremor

Doctors Specialties

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• Pediatric Neurology
• Pediatrics
• Neurology

Accepted Insurances

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Awards

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• Investigator

Education

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• Boston Children's Hospital
• University of Chicago Pritzker School of Medicine

Hospital

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• Rady Children's Hospital - San Diego

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