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
Childhood primary angiitis of the central nervous system: two biopsy-proven cases.
TL;DR: The authors identified two additional cases, one presenting with both uveitis and cerebrospinal fluid neutrophilic pleocytosis, which has not been reported previously, and demonstrate the importance of biopsy in suspected cases.
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Wendy Wenderski,Wendy Wenderski,Lu Wang,Lu Wang,Andrey Krokhotin,Andrey Krokhotin,Jessica J. Walsh,Hongjie Li,Hongjie Li,Hirotaka Shoji,Shereen G. Ghosh,Shereen G. Ghosh,Renee D. George,Renee D. George,Erik L. Miller,Erik L. Miller,Laura Elias,Laura Elias,Mark A. Gillespie,Esther Y. Son,Esther Y. Son,Brett T. Staahl,Brett T. Staahl,Seung Tae Baek,Seung Tae Baek,Valentina Stanley,Valentina Stanley,Cynthia Moncada,Cynthia Moncada,Zohar Shipony,Zohar Shipony,Sara B. Linker,Maria C. Marchetto,Fred H. Gage,Dillon Y. Chen,Dillon Y. Chen,Tipu Sultan,Maha S. Zaki,Jeffrey A. Ranish,Tsuyoshi Miyakawa,Liqun Luo,Liqun Luo,Robert C. Malenka,Gerald R. Crabtree,Gerald R. Crabtree,Joseph G. Gleeson,Joseph G. Gleeson +46 more
TL;DR: Surprisingly, mutation of Actl6b relieved repression of early response genes including AP1 transcription factors, increased chromatin accessibility at AP1 binding sites, and transcriptional changes in late response genes associated with early response transcription factor activity.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
Cristiana Pelorosso,Françoise Watrin,Valerio Conti,Emmanuelle Buhler,Antoinette Gelot,Xiaoxu Yang,Davide Mei,Jennifer McEvoy-Venneri,Jean-Bernard Manent,Valentina Cetica,Laurel L. Ball,Anna Maria Buccoliero,Antonin Vinck,Carmen Barba,Joseph G. Gleeson,Renzo Guerrini,Alfonso Represa +16 more
TL;DR: This study indicates that, in addition to single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutations affecting different genes in this pathway.
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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Nuria C. Bramswig,Aida M. Bertoli-Avella,Beate Albrecht,Aida I. Al Aqeel,Aida I. Al Aqeel,Amal Alhashem,Nouriya Al-Sannaa,Maissa Bah,Katharina Bröhl,Christel Depienne,Christel Depienne,Nathalie Dorison,Diane Doummar,Nadja Ehmke,Hasnaa M. Elbendary,Svetlana Gorokhova,Delphine Héron,Denise Horn,Kiely N. James,Boris Keren,Alma Kuechler,Samira Ismail,Mahmoud Y. Issa,Isabelle Marey,Michèle Mayer,Jennifer McEvoy-Venneri,André Mégarbané,Cyril Mignot,Sarar Mohamed,Caroline Nava,Nicole Philip,Cecile Ravix,Arndt Rolfs,Abdelrahim Abdrabou Sadek,Lara Segebrecht,Valentina Stanley,Camille Trautman,Stéphanie Valence,Laurent Villard,Thomas Wieland,Hartmut Engels,Tim M. Strom,Maha S. Zaki,Joseph G. Gleeson,Hermann-Josef Lüdecke,Hermann-Josef Lüdecke,Peter Bauer,Dagmar Wieczorek,Dagmar Wieczorek +48 more
TL;DR: A comprehensive overview of IH PRF1 and IHPRF2 phenotypes based on the largest cohort of individuals reported so far is provided and additional insights into the clinical phenotypes of these neurodevelopmental diseases are provided to help improve counseling of affected families.
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families
Ramy M Hanna,Sarah E. Marsh,Dominika Swistun,Lihadh Al-Gazali,Maha S. Zaki,Ghada M H Abdel-Salam,Asma A. Al-Tawari,Laila Bastaki,Hülya Kayserili,Anna Rajab,B. Boglárka,R.B. Dietrich,William B. Dobyns,Chip Truwit,Shifteh Sattar,N.A. Chuang,Elliott H. Sherr,Joseph G. Gleeson +17 more
TL;DR: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.