Yazar "Gleeson, Joseph G." için listeleme
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Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer, Ashleigh E.; Breuss, Martin W.; Caglayan, Ahmet Okay; Al-Sanaa, Nouriya; Al-Abdulwahed, Hind Y.; Kaymakcalan, Hande; Gleeson, Joseph G. (NATURE PUBLISHING GROUP, 2018)Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding alpha N-catenin, in patients with a ... -
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Li, Hongda; Bielas, Stephanie L.; Zaki, Maha S.; Ismail, Samira; Farfara, Dorit; Um, Kyongmi; Gleeson, Joseph G. (CELL PRESS, 2016)Cell division terminates with cytokinesis and cellular separation. Autosomal-recessive primary microcephaly (PMCPH) is a neurodevelopmental disorder characterized by a reduction in brain and head size at birth in addition ... -
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Gleeson, Joseph G. (NATURE PUBLISHING GROUP, 2017)Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg2+-dependent 3'-end RNases with substrate specificity ... -
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Jerber, Julie; Zaki, Maha S.; Al-Aama, Jumana Y.; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Gleeson, Joseph G. (CELL PRESS, 2016)Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic ...