Joseph G. Gleeson
University of California, San Diego
368 Papers
1K Citations
Joseph G. Gleeson is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 86, co-authored 307 publications. Previous affiliations of Joseph G. Gleeson include Casa Sollievo della Sofferenza & University of California, Berkeley.
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Papers
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
Gabrielle Lemire,Yoko Ito,Aren E Marshall,Nicolas Chrestian,Valentina Stanley,Lauren Brady,Mark A. Tarnopolsky,Cynthia J. Curry,Taila Hartley,Wendy Mears,Alexa Derksen,Nadie Rioux,Nataly Laflamme,H. T. Hutchison,Lynn Pais,Maha S. Zaki,Tipu Sultan,Adrie D Dane,Joseph G. Gleeson,Frédéric M. Vaz,Kristin D. Kernohan,Geneviève Bernard,Kym M. Boycott +22 more
TL;DR: In this paper, the authors present a cohort of 11 affected individuals from six unrelated families with a complicated form of hereditary spastic paraplegia (HSP) who carry bi-allelic deleterious variants in ABHD16A.
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Personalized antisense oligonucleotides ‘for free, for life’ — the n-Lorem Foundation
Joseph G. Gleeson,C. Frank Bennett,Jeffrey B. Carroll,Tracy Cole,Julie Douville,Cedrik Tekendo-Ngongang,Stanley T. Crooke +6 more
TL;DR: The n-Lorem Foundation was established in 2020 with the mission to apply the efficiency, versatility and specificity of ASO technology to charitably provide experimental medicines to treat patients with ultra-rare diseases, focusing on severely debilitating or life-threatening conditions for which there are ≤30 patients who could benefit from a drug.
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Subcortical laminar (band) heterotopia
TL;DR: The identification of causative genes for subcortical band heterotopias (SBH)/lissencephaly has expanded molecular-biological studies of neuronal migration and enabled the creation of mouse models, which have further advanced the understanding of the molecular basis of these disorders.
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy
Hui Hui Wong,Sze Hwee Seet,Michael Maier,Ayse Gurel,Ricardo Moreno Traspas,Cheryl Yi-Pin Lee,Cheryl Yi-Pin Lee,Shan Zhang,Beril Talim,Abigail Loh,Crystal Y. Chia,Tze Shin Teoh,Danielle Sng,Jarred W. Rensvold,Jarred W. Rensvold,Sule Unal,Evgenia Shishkova,Ece Cepni,Fatima Megala Nathan,Fernanda L. Sirota,Chao Liang,Nese Yarali,Pelin Ozlem Simsek-Kiper,Tadahiro Mitani,Serdar Ceylaner,Ozlem Arman-Bilir,Hamdi Mbarek,Fatma Gumruk,Stephanie Efthymiou,Deniz Uğurlu Çi̇men,Danai Georgiadou,Kortessa Sotiropoulou,Henry Houlden,Franziska Paul,Davut Pehlivan,Davut Pehlivan,Candice Lainé,Candice Lainé,Guoliang Chai,Guoliang Chai,Nur Ain Ali,Siew Chin Choo,Soh Sok Keng,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Elanur Yılmaz,Shifeng Xue,Shifeng Xue,Joshua J. Coon,Thanh Thao Nguyen Ly,Thanh Thao Nguyen Ly,Naser Gilani,Dana Hasbini,Hülya Kayserili,Maha S. Zaki,Robert J. Isfort,Natalia Ordonez,Kornelia Tripolszki,Peter Bauer,Nima Rezaei,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C. Bascom,Reza Maroofian,Myriam Chaabouni,Afaf Alsubhi,Afaf Alsubhi,Wafaa Eyaid,Wafaa Eyaid,Sedat Işıkay,Joseph G. Gleeson,Joseph G. Gleeson,James R. Lupski,Jean-Laurent Casanova,David J. Pagliarini,Nurten A. Akarsu,Sebastian Maurer-Stroh,Arda Cetinkaya,Aida M. Bertoli-Avella,Ajay S. Mathuru,Ajay S. Mathuru,Ajay S. Mathuru,Lena Ho,Lena Ho,Frederic Bard,Bruno Reversade +87 more
TL;DR: The authors showed that CRISPR-Cas9-mediated inactivation of zebrafish C2ORF69 results in lethality by 8 months of age due to spontaneous epileptic seizures, which is preceded by persistent brain inflammation.
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The sacred disease: the puzzling genetics of epileptic disorders.
TL;DR: The Epi4K Consortium focused on genes exceptionally intolerant to sequence variations and found substantial interconnections with autism and intellectual disability gene networks.
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