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Items: 19

1.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.

2.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

3.

EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal.

Akizu N, Martínez-Balbás MA.

Neurogenesis (Austin). 2016 Nov 17;3(1):e1250034. doi: 10.1080/23262133.2016.1250034. eCollection 2016.

4.

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21.

Akizu N, García MA, Estarás C, Fueyo R, Badosa C, de la Cruz X, Martínez-Balbás MA.

Open Biol. 2016 Apr;6(4):150227. doi: 10.1098/rsob.150227. Epub 2016 Apr 20.

5.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG.

Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25.

6.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG.

Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6.

7.

Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation.

Sánchez-Molina S, Estarás C, Oliva JL, Akizu N, Asensio-Juan E, Rojas JM, Martínez-Balbás MA.

Carcinogenesis. 2014 Oct;35(10):2194-202. doi: 10.1093/carcin/bgu111. Epub 2014 May 22.

8.

An increase in MECP2 dosage impairs neural tube formation.

Petazzi P, Akizu N, García A, Estarás C, Martínez de Paz A, Rodríguez-Paredes M, Martínez-Balbás MA, Huertas D, Esteller M.

Neurobiol Dis. 2014 Jul;67:49-56. doi: 10.1016/j.nbd.2014.03.009. Epub 2014 Mar 19.

9.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

10.

Mutations in CSPP1 lead to classical Joubert syndrome.

Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.

Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19.

11.

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

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux 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 S, Morisaki T, Holmes EW, Gleeson JG.

Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005.

12.

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. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28.

13.

RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase.

Estarás C, Fueyo R, Akizu N, Beltrán S, Martínez-Balbás MA.

Mol Biol Cell. 2013 Feb;24(3):351-60. doi: 10.1091/mbc.E12-07-0561. Epub 2012 Dec 14.

14.

Diencephalic-mesencephalic junction dysplasia: a novel 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. doi: 10.1093/brain/aws162. Epub 2012 Jul 20.

15.

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program.

Estarás C, Akizu N, García A, Beltrán S, de la Cruz X, Martínez-Balbás MA.

Development. 2012 Aug;139(15):2681-91. doi: 10.1242/dev.078345.

16.

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer 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, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

17.

Modeling human disease in humans: the ciliopathies.

Novarino G, Akizu N, Gleeson JG.

Cell. 2011 Sep 30;147(1):70-9. doi: 10.1016/j.cell.2011.09.014.

18.

H3K27me3 regulates BMP activity in developing spinal cord.

Akizu N, Estarás C, Guerrero L, Martí E, Martínez-Balbás MA.

Development. 2010 Sep 1;137(17):2915-25. doi: 10.1242/dev.049395. Epub 2010 Jul 28.

19.

Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails.

Lois S, Akizu N, de Xaxars GM, Vázquez I, Martínez-Balbás M, de la Cruz X.

Epigenetics. 2010 Feb 16;5(2):137-48. Epub 2010 Mar 1.

PMID:
20160474

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