Search Results - "Hope, Kevin A."

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency by Hope, Kevin A, Berman, Alexys R, Peterson, Randall T, Chow, Clement Y

“…NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene…”
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Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα by Hope, Kevin A., LeDoux, Mark S., Reiter, Lawrence T.

“…Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin…”
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Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies by Hope, Kevin A., Johnson, Daniel, Miller, P. Winston, Lopez-Ferrer, Daniel, Kakhniashvili, David, Reiter, Lawrence T.

“…Epilepsy affects millions of individuals worldwide and many cases are pharmacoresistant. Duplication 15q syndrome (Dup15q) is a genetic disorder caused by…”
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A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency by Talsness, Dana M, Owings, Katie G, Coelho, Emily, Mercenne, Gaelle, Pleinis, John M, Partha, Raghavendran, Hope, Kevin A, Zuberi, Aamir R, Clark, Nathan L, Lutz, Cathleen M, Rodan, Aylin R, Chow, Clement Y

“…N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the gene cause NGLY1 deficiency, which is characterized by…”
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A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster by Hope, Kevin A., McGinn, Addison, Reiter, Lawrence T.

“…The genetics underlying autism spectrum disorder (ASD) are complex. Approximately 3–5% of ASD cases arise from maternally inherited duplications of…”
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The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors by Hope, Kevin A, Flatten, Daniel, Cavitch, Peter, May, Ben, Sutcliffe, James S, O'Donnell, Janis, Reiter, Lawrence T

“…Major challenges to identifying genes that contribute to autism spectrum disorder (ASD) risk include the availability of large ASD cohorts, the contribution of…”
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Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT‐Immortalized Cultured Dental Pulp Stem Cells by Wilson, Ryan, Urraca, Nora, Skobowiat, Cezary, Hope, Kevin A., Miravalle, Leticia, Chamberlin, Reed, Donaldson, Martin, Seagroves, Tiffany N., Reiter, Lawrence T.

“…This study demonstrated that immortalized dental pulp stem cells (DPSCs) do not form tumors in animals and that immortalized DPSCs can be differentiated into…”
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An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT1A and Dopamine Pathway Activation as Potential Therapies by Roy, Bidisha, Han, Jungsoo, Hope, Kevin A., Peters, Tracy L., Palmer, Glen, Reiter, Lawrence T.

“…Duplication 15q (Dup15q) syndrome is a rare neurogenetic disorder characterized by autism and pharmacoresistant epilepsy. Most individuals with isodicentric…”
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression by Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S

“…Abstract UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates…”
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TRPC3 channels critically regulate hippocampal excitability and contextual fear memory by Neuner, Sarah M., Wilmott, Lynda A., Hope, Kevin A., Hoffmann, Brian, Chong, Jayhong A., Abramowitz, Joel, Birnbaumer, Lutz, O’Connell, Kristen M., Tryba, Andrew K., Greene, Andrew S., Savio Chan, C., Kaczorowski, Catherine C.

“…•Targeted proteomics identify set of proteins correlated with contextual fear memory.•Whole-genome transcript profiling highlights Trpc3 as putative regulator…”
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The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons by Hope, Kevin A, LeDoux, Mark S, Reiter, Lawrence T

“…In mammals, expression of UBE3A is epigenetically regulated in neurons and expression is restricted to the maternal copy of UBE3A. A recent report claimed that…”
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression by Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S

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Corrigendum to “TRPC3 channels critically regulate hippocampal excitability and contextual fear memory” Behav. Brain Res. 281(March) 2015, 69–77 by Neuner, Sarah M., Wilmott, Lynda A., Hope, Kevin A., Hoffmann, Brian, Chong, Jayhong A., Abramowitz, Joel, Birnbaumer, Lutz, O’Connell, Kristen, Tryba, Andrew K., Greene, Andrew S., Chan, C.Savio, Kaczorowski, Catherine C.

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Cell-Type-Specific Changes in Intrinsic Excitability in the Subiculum following Learning and Exposure to Novel Environmental Contexts by Dunn, Amy R, Neuner, Sarah M, Ding, Shengyuan, Hope, Kevin A, O'Connell, Kristen M S, Kaczorowski, Catherine C

“…The subiculum is the main target of the hippocampal region CA1 and is the principle output region of the hippocampus. The subiculum is critical to learning and…”
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Parental and larval exposure to nicotine modulate spontaneous activity as well as cholinergic and GABA receptor expression in adult C. elegans by Rose, Jacqueline K, Miller, Miranda K, Crane, Stephanie A, Hope, Kevin A, Pittman, Paul G

“…Abstract Early nicotine exposure has been associated with many long-term consequences that include neuroanatomical alterations, as well as behavioral and…”
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An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency by Kevin A Hope, Alexys R Berman, Randall T Peterson, Clement Y Chow

“…NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene…”
Get full text

An unbiased drug screen for seizure suppressors in Dup15q syndrome reveals 5HT1A and dopamine pathway activation as potential therapies by Roy, Bidisha, Han, Jungsoo, Hope, Kevin A, Peters, Tracy L., Palmer, Glen, Reiter, Lawrence T.

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An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT 1A and Dopamine Pathway Activation as Potential Therapies by Roy, Bidisha, Han, Jungsoo, Hope, Kevin A, Peters, Tracy L, Palmer, Glen, Reiter, Lawrence T

“…Duplication 15q (Dup15q) syndrome is a rare neurogenetic disorder characterized by autism and pharmacoresistant epilepsy. Most individuals with isodicentric…”
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Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome by Hope, Kevin A

“…Duplication 15q syndrome (Dup15q) is a genetic disorder caused by duplications of the 15q11.2-q13.1 region and is characterized by developmental delay, autism…”
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The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons by Hope, Kevin A., LeDoux, Mark S., Reiter, Lawrence T.

“…In mammals, expression of UBE3A is epigenetically regulated in neurons and expression is restricted to the maternal copy of UBE3A. A recent report claimed that…”
Get full text