Joseph G Gleeson
Affiliation: University of California
Li H, Saucedo Cuevas L, Yuan L, Ross D, Johansen A, Sands D, et al
. Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors. Neuron. 2019;101:1089-1098.e4 pubmed publisher
..Cleavage of Septin-2 occurred at residue 306 and forced expression of a non-cleavable Septin-2 restored cytokinesis, suggesting a direct mechanism of ZIKV-induced neural toxicity. VIDEO ABSTRACT. ..
Friedman J, Smith D, Issa M, Stanley V, Wang R, Mendes M, et al
. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019;10:707 pubmed publisher
..The implication of VARS in pediatric neurodegeneration broadens the spectrum of human diseases due to mutations in tRNA synthetase genes. ..
Ghosh S, Becker K, Huang H, Dixon Salazar T, Chai G, Salpietro V, et al
. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018;103:431-439 pubmed publisher
..Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition. ..
Lee J, Gleeson J. A systems-biology approach to understanding the ciliopathy disorders. Genome Med. 2011;3:59 pubmed publisher
Schaffer A, Breuss M, Caglayan A, Al Sanaa N, Al Abdulwahed H, Kaymakcalan H, et al
. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018;50:1093-1101 pubmed publisher
..Our findings identify CTNNA2 as the first catenin family member with biallelic mutations in humans, causing a new pachygyria syndrome linked to actin regulation, and uncover a key factor involved in ARP2/3 repression in neurons. ..
Breuss M, Nguyen A, Song Q, Nguyen T, Stanley V, James K, et al
. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018;103:296-304 pubmed publisher
..Affected cells showed the absence of full-length lunapark, aberrant ER structures, and increased luminal mass density. Together, our results implicate the ER junction stabilizer lunapark in establishing the corpus callosum. ..
Li H, Saucedo Cuevas L, Shresta S, Gleeson J. The Neurobiology of Zika Virus. Neuron. 2016;92:949-958 pubmed publisher
..Mechanisms of adult neurological disease are unknown, but recent evidence suggests propensity for infection of adult neural stem cells. Efforts focused on mechanisms of pathogenesis, vulnerabilities, and treatments are urgently needed. ..
Schaffer A, Eggens V, Caglayan A, Reuter M, Scott E, Coufal N, et al
. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014;157:651-63 pubmed publisher
..Our data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans. ..
Akizu N, Silhavy J, Rosti R, Scott E, Fenstermaker A, Schroth J, et al
. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 2014;94:80-6 pubmed publisher
..Here, we show abrogated protein levels and ciliogenesis in affected fibroblasts. Our data thus suggest that CSPP1 is involved in neural-specific functions of primary cilia. ..