Characteristic Multiorgan Pathology of Cystic Fibrosis in a Long-Living Cystic Fibrosis Transmembrane Regulator Knockout Murine Model

Por Durie, Peter R., Kent, Geraldine, Phillips, M. James, Ackerley, Cameron A.
Publicado em 2004

Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA

Por Ackerley, Cameron A., Cooper, Mary Anne, Munoz, David G., Minassian, Berge A.
Publicado no Neurology (2016)

Peptidylarginine deiminase 2 (PAD2) overexpression in transgenic mice leads to myelin loss in the central nervous system

Por Musse, Abdiwahab A., Li, Zhen, Ackerley, Cameron A., Bienzle, Dorothee, Lei, Helena, Poma, Roberto, Harauz, George, Moscarello, Mario A., Mastronardi, Fabrizio G.
Publicado em 2008

Septins Regulate Developmental Switching from Microdomain to Nanodomain Coupling of Ca(2+) Influx to Neurotransmitter Release at a Central Synapse

Por Yang, Yi-Mei, Fedchyshyn, Michael J., Grande, Giovanbattista, Aitoubah, Jamila, Tsang, Christopher W., Xie, Hong, Ackerley, Cameron A., Trimble, William S., Wang, Lu-Yang
Publicado no Neuron (2010)

Inhibiting Glycogen Synthesis Prevents Lafora Disease in a Mouse Model

Por Pederson, Bartholomew A., Turnbull, Julie, Epp, Jonathan R., Weaver, Staci A., Zhao, Xiaochu, Pencea, Nela, Roach, Peter J., Frankland, Paul, Ackerley, Cameron A., Minassian, Berge A.
Publicado em 2013

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

Por 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.
Publicado em 2012

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease

Por 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.
Publicado em 2011

Phosphorylation prevents polyglucosan transport in Lafora disease

Por Girard, Jean-Marie, Stone, Scellig S.D., Lohi, Hannes, Blaszykowski, Christophe, Teixeira, Catia, Turnbull, Julie, Wang, Afra, Draginov, Arman, Wang, Peixiang, Zhao, Xiao Chu, Ackerley, Cameron A., Frankland, Paul W., Minassian, Berge A.
Publicado em 2012

Deficiency of a Glycogen Synthase-associated Protein, Epm2aip1, Causes Decreased Glycogen Synthesis and Hepatic Insulin Resistance

Por 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.
Publicado em 2013

Early-onset Lafora body disease

Por Turnbull, Julie, Girard, Jean-Marie, Lohi, Hannes, Chan, Elayne M., Wang, Peixiang, Tiberia, Erica, Omer, Salah, Ahmed, Mushtaq, Bennett, Christopher, Chakrabarty, Aruna, Tyagi, Atul, Liu, Yan, Pencea, Nela, Zhao, XiaoChu, Scherer, Stephen W., Ackerley, Cameron A., Minassian, Berge A.
Publicado em 2012

Mutation I810N in the α3 isoform of Na(+),K(+)-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

Por 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.
Publicado em 2009