Center for Brain Development


Gleeson Lab Publications

AMPD2 regulates GTP synthesis and is mutated n a potentially treatable neurodegenerative brainstem disorder.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Vaviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel SB, Morisaki T, Holmes EW, Gleeson JG.

Cell. 2013 Aug 1;154(3):505-17

 

CCDC41 is required for ciliary vesicle docking to the mother centriole.

Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J.

Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):5987-92

 

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):468-74.

 

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):392-400.

 

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

Baek ST, Gibbs EM, Gleeson JG, Mathern GW.

Curr Opin Neurol. 2013 Apr;26(2):122-7.

 

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Roberta Cilio M, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; the International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.

Eur J Hum Genet. 2013 Feb 6.

 

Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation.

Shin E, Kashiwagi Y, Kuriu T, Iwasaki H, Tanaka T, Koizumi H, Gleeson JG, Okabe S.

Nat Commun. 2013;4:1440.

 

Can't get there from here: cilia and hydrocephalus.

Sotak BN, Gleeson JG.

Nat Med. 2012 Dec;18(12):1742-3

 

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64.

 

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L.

BMC Med Genet. 2012 Sep 14;13:80..

 

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG.

Am J Med Genet A. 2012 Nov;158A(11):2788-96.

 

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JG, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6015):394-7.

 

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome: A case report.

Kariminejad A, Radmanesh F, Rezayi AR, Tonekaboni SH, Gleeson JG.

J Child Neurol. 2012 Aug 1.

 

Diencephalic-mesencephalic junction dysplasia: a nvel recessive brain malformation.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM.

Brain. 2012 Aug;135(Pt 8):2416-27.

 

De novo somatic mutations in components of the PI3K-AKT3, mTOR pathway cause himmegalencephaly.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiber A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG.

Nat Genet. 2012 Jun 24;44(8):941-5.

 

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Upda N, Schroth J, Bielas S, Bchaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Fonmez FM, Celep F, Azaqm M, Hill KJ, Colazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG.

Science Translational Medicne. 2012 Jun 13;4(138):138ra78.

 

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause for Dubowitz-like syndrome.

Martinez FJ, Lee JG, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG

J Med Genet. 2012 Jun;49(6):380-5..

 

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus.

Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods GC, Johnson CA, Valente EM, Zaki MS, Gleeson JG.

Science. 2012 Feb 24;335(6071):966-9.

 

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.

Nat Genet 2012 Jan 15:44(2)193-9.

 

Co-occurence of distinct ciliopathy diseases in single families suggests genetic modifiers.

Zaki MS, Sattar S, Massoudi RA, Gleeson JG.

Am J Med Genet A. 2011 Dec 155A(12):3042.9.

 

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG.

Am J Med Genet A. 2011 Dec;155A(12):3035-41.

 

Modeling human disease in humans: the ciliopathies.

Novarino G, Akizu N, Gleeson JG

Cell 2011 Sept 30;147(1):70-9.

 

A systems-biology approach to understanding the ciliopathy disorders.

Lee JE, Gleeson JG.

Genome Med. 2011 Sep 26;3(9):59.

 

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K.

Am J Hum Genet. 2011 Jul 15;89(1):15-27.

 

The ciliopathies in neuronal development: A clinial approach to investigation of Joubert syndrome and related disorders.

Sattar S, Gleeson JG.

Dev Med Child Neurol 2011 Sept;53(9):793-8.

 

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG.

Nat Med. 2011 Jun;17(6):726-31.

 

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.

Lancaster MA, Schroth J, Gleeson JG.

Nat Cell Biol. 2011 Jun;13(6):702-9.

 

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N.

Nat Genet. 2011 Mar; 43(3): 189-196.

 

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG.

Neurology. 2011 Jan 25;76(4):373-382.

 

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Aleem AA, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS.

Eur J Med Genet. 2010 Nov 12.

 

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ.

Brain. 2010 Nov;133(11):3210-20.

 

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.

Cell. 2010 Jul 23;142(2):203-17

 

Cystic kidney disease: the role of Wnt signaling

Lancaster MA, Gleeson JG

Trends Mol Med. 2010 Jun 22.

 

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.

Nat Genet. 2010 May 30.

 

Functional genomic screen for modulators of ciliogenesis and cilium length.

Kim J, Lee JE, Heynen-Genel S, Suyama E, Ono K, Lee K, Ideker T, Aza-Blanc P, Gleeson JG.

Nature. 2010 Apr 15;464(7291):1048-51.

 

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM.

Hum Mutat. 2010 May;31(5):E1319-31.

 

The role of primary cilia in neuronal function.

Lee JH, Gleeson JG.

Neurobiol Dis. 2010 May;38(2):167-72.

 

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG.

Nat Genet. 2010 Feb;42(2):175-80.

 

Sun proteins enlighten nuclear movement in development.

Koizumi H, Gleeson JG.

Neuron. 2009 Oct 29;64(2):147-9.

 

Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group

Am J Med Genet A. 2009 Oct;149A(10):2173-80.

 

The molecular and genetic mechanisms of neocortex development.

Diaz AL, Gleeson JG.

Clin Perinatol. 2009 Sep;36(3):503-12.

 

Aurora A moonlights in neurite extension.

Lefkowitz GK, Gleeson JG.

Nat Cell Biol. 2009 Sep;11(9):1053-4.

 

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.

Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG.

Nat Med. 2009 Sep;15(9):1046-54.

 

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG.

Nat Genet. 2009 Sep;41(9):1032-6

 

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder

Zaki MS, Affi HH, Barkovich A, Gleeson JG

Am J Med Genet A. 2009 Aug;149A(8):1789-94.

 

The primary cilium as a cellular signaling center: lessons from disease.

Lancaster MA, Gleeson JG.

Curr Opin Genet Dev. 2009 Jun;19(3):220-9. Epub 2009 May 22.

 

Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures.

Kerjan G, Koizumi H, Han EB, Dubé CM, Djakovic SN, Patrick GN, Baram TZ, Heinemann SF, Gleeson JG.

Proc Natl Acad Sci U S A. 2009 Apr 21;106(16):6766-71. Epub 2009 Apr 2.

 

Moving neurons back into place.

Kerjan G, Gleeson JG.

Nat Med. 2009 Jan;15(1):17-8.

 

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group.

Hum Mutat. 2009 Feb;30(2):E432-42.

 

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH.

Hum Mol Genet. 2008 Dec 15;17(24):3887-96. Epub 2008 Sep 9.

 

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Kim J, Krishnaswami SR, Gleeson JG.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805.

 

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG.

Am J Hum Genet. 2008 Aug;83(2):170-9.

 

Stems cells and regeneration: special review issue.

Reijo Pera RA, Gleeson JG.

Hum Mol Genet. 2008 Apr 15;17(R1):R1-2.

 

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM.

Clin Genet. 2008 Aug;74(2):164-70.

 

Cerebellar development and disease.

Millen KJ, Gleeson JG.

Curr Opin Neurobiol. 2008 Feb;18(1):12-9.

 

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG.

Neurology. 2008 Feb 12;70(7):556-65.

 

A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration.

Kerjan G, Gleeson JG.

Genes Dev. 2007 Nov 15;21(22):2850-4. Review.

 

Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist.

Bielas SL, Serneo FF, Chechlacz M, Deernick TJ, Perkins GA, Allen PB, Ellisman MH, Gleeson JG.

Cell 2007 May 4;129(3):579-91.

 

Subcortical laminar (band) heterotopia.

Tanaka T, Gleeson JG.

Handb Clin Neurol. 2007;87:191-204.

 

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.

Kerjan G, Gleeson JG.

Trends Genet. 2007 Dec;23(12):623-30.

 

Classifying a novel brain malformation.

Harbert MJ, Gleeson JG.

Brain. 2007 Sep;130(Pt 9):2242-4. Review.

 

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG.

Am J Hum Genet. 2007 Jul;81(1):104-13.

 

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG.

Am J Med Genet A. 2007 May 1;143A(9):939-44.

 

The centrosome in neuronal development.

Higginbotham HR, Gleeson JG.

Trends Neurosci. 2007 Jun;30(6):276-83. Epub 2007 Apr 8. Review.

 

The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development.

Tanaka T, Koizumi H, Gleeson JG.

Cereb Cortex. 2006 Jul;16 Suppl 1:i69-73.

 

Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain.

Koizumi H, Higginbotham H, Poon T, Tanaka T, Brinkman BC, Gleeson JG.

Nat Neurosci. 2006 Jun;9(6):779-86. Epub 2006 May 14.

 

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG.

Nat Genet. 2006 Jun;38(6):623-5. Epub 2006 May 7.

 

GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization.

Higginbotham H, Tanaka T, Brinkman BC, Gleeson JG.

Mol Cell Neurosci. 2006 May-Jun;32(1-2):118-32. Epub 2006 May 6.

 

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group.

Ann Neurol. 2006 Mar;59(3):527-34.

 

Coupling of cell migration with neurogenesis by proneural bHLH factors.

Ge W, He F, Kim KJ, Blanchi B, Coskun V, Nguyen L, Wu X, Zhao J, Heng JI, Martinowich K, Tao J, Wu H, Castro D, Sobeih MM, Corfas G, Gleeson JG, Greenberg ME, Guillemot F, Sun YE.

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1319-24. Epub 2006 Jan 23.

 

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration.

Koizumi H, Tanaka T, Gleeson JG.

Neuron. 2006 Jan 5;49(1):55-66.

 

Genetic basis of Joubert syndrome and related disorders of cerebellar development.

Louie CM, Gleeson JG.

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R235-42. Review.

 

Nucleokinesis in neuronal migration.

Tsai LH, Gleeson JG.

Neuron. 2005 May 5;46(3):383-8. Review.

 

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG.

Ann Neurol. 2005 Apr;57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934.

 

Autism in several members of a family with generalized epilepsy with febrile seizures plus.

Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG.

J Child Neurol. 2004 Aug;19(8):597-603.

 

Childhood primary angiitis of the central nervous system: two biopsy-proven cases.

Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG.

J Pediatr. 2004 Nov;145(5):693-7.

 

Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning.

Shu T, Ayala R, Nguyen MD, Xie Z, Gleeson JG, Tsai LH.

Neuron. 2004 Oct 14;44(2):263-77.

 

Cortical neuronal migration mutants suggest separate but intersecting pathways.

Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG.

Annu Rev Cell Dev Biol. 2004;20:593-618. Review.

 

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG.

Am J Hum Genet. 2004 Dec;75(6):979-87. Epub 2004 Oct 4.

 

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells.

Higginbotham H, Bielas S, Tanaka T, Gleeson JG.

Transgenic Res. 2004 Apr;13(2):155-64.

 

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG.

J Cell Biol. 2004 Jun 7;165(5):709-21. Epub 2004 Jun 1.

 

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA.

Am J Hum Genet. 2004 Jul;75(1):82-91. Epub 2004 May 11.

 

Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.

Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG.

J Child Neurol. 2004 Mar;19(3):227-31.

 

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117.

 

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration.

Tanaka T, Serneo FF, Tseng HC, Kulkarni AB, Tsai LH, Gleeson JG.

Neuron. 2004 Jan 22;41(2):215-27.

 

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.

Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG.

J Med Genet. 2003 Dec;40(12):e128.

 

Cytoskeletal-associated proteins in the migration of cortical neurons.

Bielas SL, Gleeson JG.

J Neurobiol. 2004 Jan;58(1):149-59. Review.

Is mental retardation a defect of synapse structure and function?

Chechlacz M, Gleeson JG.

Pediatr Neurol. 2003 Jul;29(1):11-7. Review.

 

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG.

Am J Hum Genet. 2003 Sep;73(3):656-62. Epub 2003 Aug 13.

 

Multiple dose-dependent effects of Lis1 on cerebral cortical development.

Gambello MJ, Darling DL, Yingling J, Tanaka T, Gleeson JG, Wynshaw-Boris A.

J Neurosci. 2003 Mar 1;23(5):1719-29.

 

Another double trouble. Silent carriers of doublecortin mutations.

Gleeson JG.

Neurology. 2003 Jan 28;60(2):164-5. No abstract available.

 

Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement.

Meyer G, Perez-Garcia CG, Gleeson JG.

Cereb Cortex. 2002 Dec;12(12):1225-36.

 

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E.

Brain. 2002 Nov;125(Pt 11):2507-22.

 

Neuronal migration disorders.

Gleeson JG.

Ment Retard Dev Disabil Res Rev. 2001;7(3):167-71. Review.

 

Genetics of brain development and malformation syndromes.

Tanaka T, Gleeson JG.

Curr Opin Pediatr. 2000 Dec;12(6):523-8. Review.

 

Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin.

Gleeson JG.

Curr Opin Neurol. 2000 Apr;13(2):121-5. Review.

Patient mutations in doublecortin define a repeated tubulin-binding domain.

Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG.

J Biol Chem. 2000 Nov 3;275(44):34442-50.

 

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA.

Am J Hum Genet. 2000 Sep;67(3):574-81. Epub 2000 Jul 27.

 

Neuronal migration disorders: from genetic diseases to developmental mechanisms.

Gleeson JG, Walsh CA.

Trends Neurosci. 2000 Aug;23(8):352-9. Review.

 

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA.

Ann Neurol. 2000 Feb;47(2):265-9.

 

Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.

Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA.

J Neurol. 1999 Dec;246(12):1177-80.

 

DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization.

Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA.

J Neurosci. 2000 Dec 15;20(24):9152-61.

 

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ.

Neurology. 1999 Jul 22;53(2):270-7.

 

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.

Gleeson JG, Lin PT, Flanagan LA, Walsh CA.

Neuron. 1999 Jun;23(2):257-71.

 

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al.

Ann Neurol. 1999 Feb;45(2):146-53.

 

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME.

Hum Mol Genet. 1998 Dec;7(13):2029-37.

 

A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3.

Allen KM, Gleeson JG, Shoup SM, Walsh CA.

Genomics. 1998 Sep 1;52(2):214-8.

 

PAK3 mutation in nonsyndromic X-linked mental retardation.

Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA.

Nat Genet. 1998 Sep;20(1):25-30.

 

Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence.

Gleeson JG, duPlessis AJ, Barnes PD, Riviello JJ Jr.

J Child Neurol. 1998 Jul;13(7):336-44.

 

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA.

Cell. 1998 Jan 9;92(1):63-72.