Publications

Mar, 2017

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

Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu. Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen & Joseph G Gleeson. Nature Genetics. 2017 Mar;49(3):457-464.

Jan, 2017

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. 

Nov, 2016

EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal

Akizu N, Martínez-Balbás MA. EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal. Neurogenesis (Austin). 2016 Nov 17;3(1):e1250034. 

Apr, 2016

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.

Jul, 2015

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.

May, 2015

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

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K. Vaux, Eric M. Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Fields, Gennaro Napolitano, R. Koksal Ozgul, Mahmut Samil Sagiroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman Gamal, Sawsan Abdel Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B. Gabriel, Pascale de Lonlay, Joseph G. Gleeson. Nat Genet. 2015 May; 47(5): 528–534. 

Oct, 2014

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.

Jul, 2014

An increase in MECP2 dosage impairs neural tube formation

Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A. Martínez-Balbás, Dori Huertas, Manel Esteller. Nerobiol Dis. 2014 Jul;67:49-56.

Jan, 2014

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. 

Jan, 2014

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.

Aug, 2013

AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder

Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith S. Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Mujgan Sonmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Al-Baradie, Eissa Faqeih, Mohammad Saleh, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson. Cell. 2013 Aug 1; 154(3): 10.1016/j.cell.2013.07.005.

Mar, 2013

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.

Dec, 2012

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.

Aug, 2012

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.

Aug, 2012

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.

Jun, 2012

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. 

Sep, 2011

Modeling human disease in humans: the ciliopathies

Novarino G, Akizu N, Gleeson JG. Cell. 2011 Sep 30;147(1):70-9.

Sep, 2010

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.

Feb, 2010

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.

Mar, 2007

Involvement of chromatin and histone deacetylation in SV40 T antigen transcription regulation

Valls E, Blanco-García N, Aquizu N, Piedra D, Estarás C, de la Cruz X, Martínez-Balbás MA. Nucleic Acids Res. 2007;35(6):1958-68.