PEOPLE

Naiara Aquizu Lopez, PhD

Assistant Professor of Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine

Contact Information

Research Expertise

1. Studying specific neuronal populations perturbed in neurological disorders, in particular corticospinal motor neurons and hindbrain structures affected by Adenosine Monophosphate Deaminase 2 (AMPD2) mutations, which is funded by the K99/R00 career development award from NINDS.

2. Characterizing novel regulatory mechanisms that provide neuronal diversity and specificity, with a special focus on those that control specific proteome homeostasis. We will use human embryonic stem cells and vertebrate animal models (i.e. chicken, mouse and zebrafish) combined with molecular biology tools to address these questions that hold the promise to uncover specific neuronal subtype particularities in human health and disease.

Education

BS (Biology), University Pompeu Fabra, Barcelona, 2005
PhD (Biomedicine), University of Barcelona, 2010

Specialty Certification

Postgraduate Training

Graduate Student; Epigenetics, Molecular Biology Institute of Barcelona, Spanish National Research Council, Department of Molecular Genomics, 2005-2010
Postdoctoral Fellow; Neurogenetics, University of California, San Diego, Department of Neurosciences, 2010-2014
Postdoctoral Fellow; Neural Development, The Scripps Research Institute, Department of Molecular and Cellular Neurosciences;, 2014-2016

Awards and Honors

Maximum Honor Prize, University Pompeu Fabra, Barcelona, Spain, 2005
Predoctoral Fellowship from Spanish National Research Council (I3P), 2006-2010
Summa cum laude in distinction of Doctoral Thesis, University of Barcelona, Spain, 2010
Postdoctoral Training Grant, California Institute of Regenerative Medicine, 2011-2013
K99/R00 NIH Pathway to Independence Award, The Scripps Research Institute, 2014-2017

Memberships and Professional Organizations

Web Links


Selected Publications

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, Nature Genet, 2017

EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal

Akizu Naiara, Martínez-Balbás Marian A, Neurogenesis (Austin) 17;3(1)(3(1)): , 2016

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

Akizu Naiara, García Maria Alejandra, Estarás Conchi, Fueyo Raquel, Badosa Carmen, de la Cruz Xavier, Martínez-Balbás Marian A, Open Biol 6(4): 150227, 2016, PMID:27248655

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

Guemez-Gamboa Alicia, Nguyen Long N, Yang Hongbo, Zaki Maha S, Kara Majdi, Ben-Omran Tawfeg, Akizu Naiara, Rosti Rasim Ozgur, Rosti Basak, Scott Eric, Schroth Jana, Copeland Brett, Vaux Keith K, Cazenave-Gassiot Amaury, Quek Debra Q Y, Wong Bernice H, Tan Bryan C, Wenk Markus R, Gunel Murat, Gabriel Stacey, Chi Neil C, Silver David L, Gleeson Joseph G, Nature Genet 47(7): 809-13, 2015, PMID:26005868

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

Akizu Naiara, Cantagrel Vincent, Zaki Maha S, Al-Gazali Lihadh, Wang Xin, Rosti Rasim Ozgur, Dikoglu Esra, Gelot Antoinette Bernabe, Rosti Basak, Vaux Keith K, Scott Eric M, Silhavy Jennifer L, Schroth Jana, Copeland Brett, Schaffer Ashleigh E, Gordts Philip L S M, Esko Jeffrey D, Buschman Matthew D, Field Seth J, Napolitano Gennaro, Abdel-Salam Ghada M, Ozgul R Koksal, Sagıroglu Mahmut Samil, Azam Matloob, Ismail Samira, Aglan Mona, Selim Laila, Mahmoud Iman G, Abdel-Hadi Sawsan, Badawy Amera El, Sadek Abdelrahim A, Mojahedi Faezeh, Kayserili Hulya, Masri Amira, Bastaki Laila, Temtamy Samia, Müller Ulrich, Desguerre Isabelle, Casanova Jean-Laurent, Dursun Ali, Gunel Murat, Gabriel Stacey B, de Lonlay Pascale, Gleeson Joseph G, Nature Genet 47(5): 528-34, 2015, PMID:25848753

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An increase in MECP2 dosage impairs neural tube formation.

Petazzi Paolo, Akizu Naiara, García Alejandra, Estarás Conchi, Martínez de Paz Alexia, Rodríguez-Paredes Manuel, Martínez-Balbás Marian A, Huertas Dori, Esteller Manel, Neurobiol Dis 67(): 49-56, 2014, PMID:24657916

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

Sánchez-Molina Sara, Estarás Conchi, Oliva José Luis, Akizu Naiara, Asensio-Juan Elena, Rojas José María, Martínez-Balbás Marian A, Carcinogenesis 35(10): 2194-202, 2014, PMID:24853677

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

Novarino Gaia, Fenstermaker Ali G, Zaki Maha S, Hofree Matan, Silhavy Jennifer L, Heiberg Andrew D, Abdellateef Mostafa, Rosti Basak, Scott Eric, Mansour Lobna, Masri Amira, Kayserili Hulya, Al-Aama Jumana Y, Abdel-Salam Ghada M H, Karminejad Ariana, Kara Majdi, Kara Bulent, Bozorgmehri Bita, Ben-Omran Tawfeg, Mojahedi Faezeh, Mahmoud Iman Gamal El Din, Bouslam Naima, Bouhouche Ahmed, Benomar Ali, Hanein Sylvain, Raymond Laure, Forlani Sylvie, Mascaro Massimo, Selim Laila, Shehata Nabil, Al-Allawi Nasir, Bindu P S, Azam Matloob, Gunel Murat, Caglayan Ahmet, Bilguvar Kaya, Tolun Aslihan, Issa Mahmoud Y, Schroth Jana, Spencer Emily G, Rosti Rasim O, Akizu Naiara, Vaux Keith K, Johansen Anide, Koh Alice A, Megahed Hisham, Durr Alexandra, Brice Alexis, Stevanin Giovanni, Gabriel Stacy B, Ideker Trey, Gleeson Joseph G, Science 343(6170): 506-11, 2014, PMID:24482476

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Mutations in CSPP1 lead to classical Joubert Syndrome.

Akizu Naiara, Silhavy Jennifer L, Rosti Rasim Ozgur, Scott Eric, Fenstermaker Ali G, Schroth Jana, Zaki Maha S, Sanchez Henry, Gupta Neerja, Kabra Madhulika, Kara Majdi, Ben-Omran Tawfeg, Rosti Basak, Guemez-Gamboa Alicia, Spencer Emily, Pan Roger, Cai Na, Abdellateef Mostafa, Gabriel Stacey, Halbritter Jan, Hildebrandt Friedhelm, van Bokhoven Hans, Gunel Murat, Gleeson Joseph G, Am J Hum Genet 94(1): 80-6, 2014, PMID:24360807

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

Estarás Conchi, Fueyo Raquel, Akizu Naiara, Beltrán Sergi, Martínez-Balbás Marian A, Mol Biol Cell 24(3): 351-60, 2013, PMID:23243002

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

Akizu Naiara, Cantagrel Vincent, Schroth Jana, Cai Na, Vaux Keith, McCloskey Douglas, Naviaux Robert K, Van Vleet Jeremy, Fenstermaker Ali G, Silhavy Jennifer L, Scheliga Judith S, Toyama Keiko, Morisaki Hiroko, Sonmez Fatma M, Celep Figen, Oraby Azza, Zaki Maha S, Al-Baradie Raidah, Faqeih Eissa A, Saleh Mohammed A M, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, Morisaki Takayuki, Holmes Edward W, Gleeson Joseph G, Cell 154(3): 505-17, 2013, PMID:23911318

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

Akizu Naiara, Shembesh Nuri M, Ben-Omran Tawfeg, Bastaki Laila, Al-Tawari Asma, Zaki Maha S, Koul Roshan, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, da Gente Gilberto, Li Jiang, Deardorff Matthew A, Conlin Laura K, Horton Margaret A, Zackai Elaine H, Sherr Elliott H, Gleeson Joseph G, Am J Hum Genet 92(3): 392-400, 2013, PMID:23453666

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Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar Tracy J, Silhavy Jennifer L, Udpa Nitin, Schroth Jana, Bielas Stephanie, Schaffer Ashleigh E, Olvera Jesus, Bafna Vineet, Zaki Maha S, Abdel-Salam Ghada H, Mansour Lobna A, Selim Laila, Abdel-Hadi Sawsan, Marzouki Naima, Ben-Omran Tawfeg, Al-Saana Nouriya A, Sonmez F Müjgan, Celep Figen, Azam Matloob, Hill Kiley J, Collazo Adrienne, Fenstermaker Ali G, Novarino Gaia, Akizu Naiara, Garimella Kiran V, Sougnez Carrie, Russ Carsten, Gabriel Stacey B, Gleeson Joseph G, Science Transl Med 4(138): 138ra78, 2012, PMID:22700954

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

Zaki Maha S, Saleem Sahar N, Dobyns William B, Barkovich A James, Bartsch Hauke, Dale Anders M, Ashtari Manzar, Akizu Naiara, Gleeson Joseph G, Grijalvo-Perez Ana Maria, Brain 135(Pt 8): 2416-27, 2012, PMID:22822038

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

Estarás Conchi, Akizu Naiara, García Alejandra, Beltrán Sergi, de la Cruz Xavier, Martínez-Balbás Marian A, Development 139(15): 2681-91, 2012, PMID:22782721

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Modeling human disease in humans: the ciliopathies.

Novarino Gaia, Akizu Naiara, Gleeson Joseph G, Cell 147(1): 70-9, 2011, PMID:21962508

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H3K27me3 regulates BMP activity in developing spinal cord.

Akizu Naiara, Estarás Conchi, Guerrero Laura, Martí Elisa, Martínez-Balbás Marian A, Development 137(17): 2915-25, 2010, PMID:20667911

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