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Li, Hongda, Saucedo-Cuevas, Laura, Regla-Nava, Jose A., Chai, Guoliang, Sheets, Nicholas, Tang, William, Terskikh, Alexey V., Shresta, Sujan, Gleeson, Joseph G.
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Published in Cell stem cell (03.11.2016)
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NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs
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Published in Cell reports (Cambridge) (25.07.2013)
Published in Cell reports (Cambridge) (25.07.2013)
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A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology
Wang, Lu, Sievert, David, Clark, Alex E., Lee, Sangmoon, Federman, Hannah, Gastfriend, Benjamin D., Shusta, Eric V., Palecek, Sean P., Carlin, Aaron F., Gleeson, Joseph G.
Published in Nature medicine (01.09.2021)
Published in Nature medicine (01.09.2021)
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Primary cilia in neurodevelopmental disorders
Valente, Enza Maria, Rosti, Rasim O., Gibbs, Elizabeth, Gleeson, Joseph G.
Published in Nature reviews. Neurology (01.01.2014)
Published in Nature reviews. Neurology (01.01.2014)
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Cytosine-5 RNA methylation links protein synthesis to cell metabolism
Gkatza, Nikoletta A, Castro, Cecilia, Harvey, Robert F, Heiß, Matthias, Popis, Martyna C, Blanco, Sandra, Bornelöv, Susanne, Sajini, Abdulrahim A, Gleeson, Joseph G, Griffin, Julian L, West, James A, Kellner, Stefanie, Willis, Anne E, Dietmann, Sabine, Frye, Michaela
Published in PLoS biology (14.06.2019)
Published in PLoS biology (14.06.2019)
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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher R., Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Published in Cell (24.04.2014)
Published in Cell (24.04.2014)
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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Tărlungeanu, Dora C., Deliu, Elena, Dotter, Christoph P., Kara, Majdi, Janiesch, Philipp Christoph, Scalise, Mariafrancesca, Galluccio, Michele, Tesulov, Mateja, Morelli, Emanuela, Sonmez, Fatma Mujgan, Bilguvar, Kaya, Ohgaki, Ryuichi, Kanai, Yoshikatsu, Johansen, Anide, Esharif, Seham, Ben-Omran, Tawfeg, Topcu, Meral, Schlessinger, Avner, Indiveri, Cesare, Duncan, Kent E., Caglayan, Ahmet Okay, Gunel, Murat, Gleeson, Joseph G., Novarino, Gaia
Published in Cell (01.12.2016)
Published in Cell (01.12.2016)
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Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders
Blanco, Sandra, Dietmann, Sabine, Flores, Joana V, Hussain, Shobbir, Kutter, Claudia, Humphreys, Peter, Lukk, Margus, Lombard, Patrick, Treps, Lucas, Popis, Martyna, Kellner, Stefanie, Hölter, Sabine M, Garrett, Lillian, Wurst, Wolfgang, Becker, Lore, Klopstock, Thomas, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabĕ de Angelis, Martin, Káradóttir, Ragnhildur T, Helm, Mark, Ule, Jernej, Gleeson, Joseph G, Odom, Duncan T, Frye, Michaela
Published in The EMBO journal (17.09.2014)
Published in The EMBO journal (17.09.2014)
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
Van Haute, Lindsey, Lee, Song-Yi, McCann, Beverly J, Powell, Christopher A, Bansal, Dhiru, Vasiliauskaitė, Lina, Garone, Caterina, Shin, Sanghee, Kim, Jong-Seo, Frye, Michaela, Gleeson, Joseph G, Miska, Eric A, Rhee, Hyun-Woo, Minczuk, Michal
Published in Nucleic acids research (19.09.2019)
Published in Nucleic acids research (19.09.2019)
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Functional genomic screen for modulators of ciliogenesis and cilium length
Gleeson, Joseph G, Kim, Joon, Lee, Ji Eun, Heynen-Genel, Susanne, Suyama, Eigo, Ono, Keiichiro, Lee, KiYoung, Ideker, Trey, Aza-Blanc, Pedro
Published in Nature (London) (15.04.2010)
Published in Nature (London) (15.04.2010)
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Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy
Foronda, Hector, Fu, Yangxue, Covarrubias-Pinto, Adriana, Bocker, Hartmut T., González, Alexis, Seemann, Eric, Franzka, Patricia, Bock, Andrea, Bhaskara, Ramachandra M., Liebmann, Lutz, Hoffmann, Marina E., Katona, Istvan, Koch, Nicole, Weis, Joachim, Kurth, Ingo, Gleeson, Joseph G., Reggiori, Fulvio, Hummer, Gerhard, Kessels, Michael M., Qualmann, Britta, Mari, Muriel, Dikić, Ivan, Hübner, Christian A.
Published in Nature (London) (08.06.2023)
Published in Nature (London) (08.06.2023)
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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
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Personalized antisense oligonucleotides ‘for free, for life’ — the n-Lorem Foundation
Gleeson, Joseph G., Bennett, C. Frank, Carroll, Jeffrey B., Cole, Tracy, Douville, Julie, Glass, Sarah, Tekendo-Ngongang, Cedrik, Williford, Amy C., Crooke, Stanley T.
Published in Nature medicine (01.06.2023)
Published in Nature medicine (01.06.2023)
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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Martinez, Fernando Jose, Lee, Jeong Ho, Lee, Ji Eun, Blanco, Sandra, Nickerson, Elizabeth, Gabriel, Stacey, Frye, Michaela, Al-Gazali, Lihadh, Gleeson, Joseph G
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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