N. Akizu

发表

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Vineet Bafna, Nitin Udpa, Carrie Sougnez, 2012, Science Translational Medicine.

Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis.

S. Ramón y. Cajal, N. Verdaguer, N. Akizu, 2020, Cell stem cell.

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

X. de la Cruz, S. Lois, N. Akizu, 2010, Epigenetics.

Multimerization of Zika Virus-NS5 causes a ciliopathy and forces premature neurogenesis

S. Ramón y. Cajal, N. Verdaguer, N. Akizu, 2019, bioRxiv.

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

X. de la Cruz, N. Akizu, M. Martínez-Balbás, 2016, Open Biology.

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

S. Gabriel, E. Zackai, E. Nickerson, 2013, American journal of human genetics.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Modeling Human Disease in Humans: The Ciliopathies

J. Gleeson, G. Novarino, N. Akizu, 2011, Cell.

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

X. de la Cruz, N. Akizu, Sergi Beltran, 2012, Development.

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

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

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

J. Rojas, N. Akizu, J. L. Oliva, 2014, Carcinogenesis.

H3K27me3 regulates BMP activity in developing spinal cord

N. Akizu, M. Martínez-Balbás, E. Martí, 2010, Development.

H 3 K 27 me 3 regulates BMP activity in developing spinal cord

N. Akizu, M. Martínez-Balbás, E. Martí, 2010 .

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

S. Gabriel, E. Nickerson, R. Naviaux, 2013, Cell.

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

N. Akizu, Sergi Beltran, M. Martínez-Balbás, 2013, Molecular biology of the cell.

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

S. Gabriel, M. Gunel, A. Cazenave-Gassiot, 2015, Nature Genetics.

EZH 2 regulates neuroepithelium structure and neuroblast proliferation by repressing p 21

N. Akizu, M. Martínez-Balbás, C. Estarás, 2022 .

EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal

N. Akizu, M. Martínez-Balbás, 2016, Neurogenesis.

Mutations in CSPP1 lead to classical Joubert syndrome.

S. Gabriel, M. Gunel, M. Kabra, 2014, American journal of human genetics.

An increase in MECP2 dosage impairs neural tube formation

M. Esteller, N. Akizu, Alejandra García, 2014, Neurobiology of Disease.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

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

A. Dale, M. Ashtari, A. Barkovich, 2012, Brain : a journal of neurology.

Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency

C. Mesaros, N. Akizu, Mike Henne, 2022, bioRxiv.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

Ethan M. Goldberg, Joseph T. Glessner, J. A. Maguire, 2023, bioRxiv.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Development and Stem Cells Research Article 2681

N. Akizu, Sergi Beltran, Alejandra García, 2022 .

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.