Akizu Laboratory Publications

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Below is a list of selected publications from the Akizu Lab:

Saade M, Ferrero DS, Blanco-Ameijeiras J, Gonzalez-Gobartt E, Flores-Mendez M, Ruiz-Arroyo VM, Martínez-Sáez E, Ramón Y Cajal S, Akizu N, Verdaguer N, Martí E. Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis. Cell Stem Cell. 2020 Dec; 27(6):920-936.e8. PMID: 33147489
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. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464. PMID: 28092684
Akizu N, Martínez-Balbás MA. EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal. Neurogenesis (Austin). 2016 Nov; 3(1):e1250034. PMID: 28090544
Akizu N, García MA, Estarás C, Fueyo R, Badosa C, de la Cruz X, Martínez-Balbás MA. EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21. Open Biol. 2016 Apr; 6(4):150227. PMID: 27248655
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. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015 Jul; 47(7):809-813. PMID: 26005868
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 P, Esko JD, Buschman MD, Fields SJ, Napolitano G, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Gamal I, Hadi SA, El Badawy A, 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. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015 May; 47(5): 528-534. PMID: 25848753
Sánchez-Molina S, Estarás C, Oliva JL, Akizu N, Asensio-Juan E, Rojas JM, Martínez-Balbás MA. Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation. Carcinogenesis. 2014 Oct; 35(10):2194-2202. PMID: 24853677
Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A. Martínez-Balbás, Dori Huertas, Manel Esteller. An increase in MECP2 dosage impairs neural tube formation. Nerobiol Dis. 2014 Jul; 67:49-56. PMID: 24657916
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. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 2014 Jan; 94(1):80-86. PMID: 24360807
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. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan; 343(6170):506-511. PMID: 24482476
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 E, Saleh M, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder. Cell. 2013 Aug; 154(3): 10.1016/j.cell.2013.07.005. PMID: 23911318
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. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar; 92(3):392-400. PMID: 23453666
Estarás C, Fueyo R, Akizu N, Beltrán S, Martínez-Balbás MA. RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase. Mol Biol Cell. 2013 Feb; 24(3):351-360. PMID: 23243002
Estarás C, Akizu N, García A, Beltrán S, de la Cruz X, Martínez-Balbás MA. Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program. Development. 2012 Aug; 139(15):2681-2691. PMID: 22782721
Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug; 135(Pt 8):2416-2427. PMID: 22822038
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. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med. 2012 Jun; 4(138):138ra78. PMID: 22700954
Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 2011 Sep; 147(1):70-79. PMID: 21962508
Akizu N, Estarás C, Guerrero L, Martí E, Martínez-Balbás MA. H3K27me3 regulates BMP activity in developing spinal cord. Development. 2010 Sep; 137(17):2915-2925. PMID: 20667911
Lois S, Akizu N, de Xaxars GM, Vázquez I, Martínez-Balbás M, de la Cruz X. Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails. Epigenetics. 2010 Feb; 5(2):137-148. PMID: 20160474
Valls E, Blanco-García N, Aquizu N, Piedra D, Estarás C, de la Cruz X, Martínez-Balbás MA. Involvement of chromatin and histone deacetylation in SV40 T antigen transcription regulation. Nucleic Acids Res. 2007 Jan; 35(6):1958-1968. PMID: 17341466