Search Results - "Ackerley, Cameron A"

Identification of RSV Fusion Protein Interaction Domains on the Virus Receptor, Nucleolin by Mastrangelo, Peter, Chin, Allysia A, Tan, Stephanie, Jeon, Amy H, Ackerley, Cameron A, Siu, Karen K, Lee, Jeffrey E, Hegele, Richard G

“…Nucleolin is an essential cellular receptor to human respiratory syncytial virus (RSV). Pharmacological targeting of the nucleolin RNA binding domain RBD1,2…”
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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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Septins Regulate Developmental Switching from Microdomain to Nanodomain Coupling of Ca2+ Influx to Neurotransmitter Release at a Central Synapse by Yang, Yi-Mei, Fedchyshyn, Michael J., Grande, Giovanbattista, Aitoubah, Jamila, Tsang, Christopher W., Xie, Hong, Ackerley, Cameron A., Trimble, William S., Wang, Lu-Yang

“…Neurotransmitter release depends critically on close spatial coupling of Ca2+entry to synaptic vesicles at the nerve terminal; however, the molecular…”
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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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Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exercise by Lamhonwah, Anne-Marie, Bear, Christine E., Huan, Ling Jun, Chiaw, Patrick Kim, Ackerley, Cameron A., Tein, Ingrid

“…Objective Individuals with cystic fibrosis (CF) have exercise intolerance and skeletal muscle weakness not solely attributable to physical inactivity or…”
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Mutation I810N in the α3 isoform of Na⁺,K⁺-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS by Clapcote, Steven J, Duffy, Steven, Xie, Gang, Kirshenbaum, Greer, Bechard, Allison R, Rodacker Schack, Vivien, Petersen, Janne, Sinai, Laleh, Saab, Bechara J, Lerch, Jason P, Minassian, Berge A, Ackerley, Cameron A, Sled, John G, Cortez, Miguel A, Henderson, Jeffrey T, Vilsen, Bente, Roder, John C

“…In a mouse mutagenesis screen, we isolated a mutant, Myshkin (Myk), with autosomal dominant complex partial and secondarily generalized seizures, a greatly…”
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Myelin localization of peptidylarginine deiminases 2 and 4: comparison of PAD2 and PAD4 activities by Wood, Dorothy D, Ackerley, Cameron A, Brand, Ben van den, Zhang, Li, Raijmakers, Reinout, Mastronardi, Fabrizio G, Moscarello, Mario A

“…An understanding of the structure and composition of the myelin sheath is essential to understand the pathogenesis of demyelinating diseases such as multiple…”
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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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Peptidylarginine deiminase 2 (PAD2) overexpression in transgenic mice leads to myelin loss in the central nervous system by Musse, Abdiwahab A, Li, Zhen, Ackerley, Cameron A, Bienzle, Dorothee, Lei, Helena, Poma, Roberto, Harauz, George, Moscarello, Mario A, Mastronardi, Fabrizio G

“…Demyelination in the central nervous system is the hallmark feature in multiple sclerosis (MS). The mechanism resulting in destabilization of myelin is a…”
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Characteristic Multiorgan Pathology of Cystic Fibrosis in a Long-Living Cystic Fibrosis Transmembrane Regulator Knockout Murine Model by Durie, Peter R., Kent, Geraldine, Phillips, M. James, Ackerley, Cameron A.

“…The lack of an appropriate animal model with multiorgan pathology characteristic of the human form of cystic fibrosis has hampered our understanding of the…”
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Expanded repeat in canine epilepsy by Lohi, H, Young, E.J, Fitzmaurice, S.N, Rusbridge, C, Chan, E.M, Vervoort, M, Turnbull, J, Zhao, X.C, Ianzano, L, Paterson, A.D

“…Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans…”
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Lafora disease by Turnbull, Julie, Tiberia, Erica, Striano, Pasquale, Genton, Pierre, Carpenter, Stirling, Ackerley, Cameron A., Minassian, Berge A.

“…Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no…”
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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy by Ramachandran, Nivetha, Munteanu, Iulia, Wang, Peixiang, Ruggieri, Alessandra, Rilstone, Jennifer J., Israelian, Nyrie, Naranian, Taline, Paroutis, Paul, Guo, Ray, Ren, Zhi-Ping, Nishino, Ichizo, Chabrol, Brigitte, Pellissier, Jean-Francois, Minetti, Carlo, Udd, Bjarne, Fardeau, Michel, Tailor, Chetankumar S., Mahuran, Don J., Kissel, John T., Kalimo, Hannu, Levy, Nicolas, Manolson, Morris F., Ackerley, Cameron A., Minassian, Berge A.

“…X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show…”
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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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Septins regulate developmental switching from microdomain to nanodomain coupling of Ca(2+) influx to neurotransmitter release at a central synapse by Yang, Yi-Mei, Fedchyshyn, Michael J, Grande, Giovanbattista, Aitoubah, Jamila, Tsang, Christopher W, Xie, Hong, Ackerley, Cameron A, Trimble, William S, Wang, Lu-Yang

“…Neurotransmitter release depends critically on close spatial coupling of Ca(2+) entry to synaptic vesicles at the nerve terminal; however, the molecular…”
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Su1776 Microvillus Structure and Function Modulated by Glucagon-like Peptide-2 and the Intestinal Epithelial Insulin-like Growth Factor-1 Receptor by Markovic, Melanie A, Ackerley, Cameron A, Brubaker, Patricia L

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Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA by Ackerley, Cameron A, Cooper, Mary Anne, Munoz, David G, Minassian, Berge A

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Abnormalities in villin gene expression and canalicular microvillus structure in progressive cholestatic liver disease of childhood by Phillips, M James, Azuma, Toshifumi, Meredith, Sheue-Lim M, Squire, Jeremy A, Ackerley, Cameron A, Pluthero, Fred G, Roberts, Eve A, Superina, Riccardo A, Levy, Gary A, Marsden, Philip A

“…The molecular basis of clinical cholestasis is a subject of intense investigation. Villin is an actin binding, bundling, and severing protein needed for…”
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