Search Results - "Pencea, Nela"

Inhibiting glycogen synthesis prevents lafora disease in a mouse model by Pederson, Bartholomew A., Turnbull, Julie, Epp, Jonathan R., Weaver, Staci A., Zhao, Xiaochu, Pencea, Nela, Roach, Peter J., Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

“…Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins…”
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PTG protein depletion rescues malin-deficient Lafora disease in mouse by Turnbull, Julie, Epp, Jonathan R., Goldsmith, Danielle, Zhao, Xiaochu, Pencea, Nela, Wang, Peixiang, Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

“…Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate…”
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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease by Turnbull, Julie, DePaoli-Roach, Anna A, Zhao, Xiaochu, Cortez, Miguel A, Pencea, Nela, Tiberia, Erica, Piliguian, Mark, Roach, Peter J, Wang, Peixiang, Ackerley, Cameron A, Minassian, Berge A

“…Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the…”
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Glycogen hyperphosphorylation underlies lafora body formation by Turnbull, Julie, Wang, Peixiang, Girard, Jean-Marie, Ruggieri, Alessandra, Wang, Tony J., Draginov, Arman G., Kameka, Alexander P., Pencea, Nela, Zhao, Xiaochu, Ackerley, Cameron A., Minassian, Berge A.

“…Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are…”
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Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease by Tiberia, Erica, Turnbull, Julie, Wang, Tony, Ruggieri, Alessandra, Zhao, Xiao-Chu, Pencea, Nela, Israelian, Johan, Wang, Yin, Ackerley, Cameron A., Wang, Peixiang, Liu, Yan, Minassian, Berge A.

“…Background: Laforin deficiency causes glycogen hyperphosphorylation, which converts glycogen to aggregate-prone poorly branched polyglucosans. Malin deficiency…”
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Early-onset Lafora body disease by TURNBULL, Julie, GIRARD, Jean-Marie, TYAGI, Atul, YAN LIU, PENCEA, Nela, XIAOCHU ZHAO, SCHERER, Stephen W, ACKERLEY, Cameron A, MINASSIAN, Berge A, LOHI, Hannes, CHAN, Elayne M, PEIXIANG WANG, TIBERIA, Erica, OMER, Salah, AHMED, Mushtaq, BENNETT, Christopher, CHAKRABARTY, Aruna

“…The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6…”
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Deficiency of a Glycogen Synthase-associated Protein, Epm2aip1, Causes Decreased Glycogen Synthesis and Hepatic Insulin Resistance by Turnbull, Julie, Tiberia, Erica, Pereira, Sandra, Zhao, Xiaochu, Pencea, Nela, Wheeler, Anne L., Yu, Wen Qin, Ivovic, Alexander, Naranian, Taline, Israelian, Nyrie, Draginov, Arman, Piliguian, Mark, Frankland, Paul W., Wang, Peixiang, Ackerley, Cameron A., Giacca, Adria, Minassian, Berge A.

“…Glycogen synthesis is a major component of the insulin response, and defective glycogen synthesis is a major portion of insulin resistance. Insulin regulates…”
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Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2 by Gianakopoulos, Peter J., Zhang, Yuzhi, Pencea, Nela, Orlic-Milacic, Marija, Mittal, Kirti, Windpassinger, Christian, White, Sara-Jane, Kroisel, Peter M., Chow, Eva W.C., Saunders, Carol J., Minassian, Berge A., Vincent, John B.

“…The overwhelming majority of Rett syndrome cases are caused by mutations in the gene MECP2. MECP2 has two isoforms, termed MECP2_e1 and MECP2_e2, which differ…”
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PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease: e1002037 by Turnbull, Julie, DePaoli-Roach, Anna A, Zhao, Xiaochu, Cortez, Miguel A, Pencea, Nela, Tiberia, Erica, Piliguian, Mark, Roach, Peter J, Wang, Peixiang, Ackerley, Cameron A, Minassian, Berge A

“…Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the…”
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