PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

by Julie Turnbull, Anna A DePaoli-Roach, Xiaochu Zhao, Miguel A Cortez, Nela Pencea, Erica Tiberia, Mark Piliguian, Peter J Roach, Peixiang Wang, Cameron A Ackerley, Berge A Minassian
Published 2011-04-01

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

by Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian
Published 2020-11-01

Glycogen Dynamics Drives Lipid Droplet Biogenesis during Brown Adipocyte Differentiation

by Alicia Mayeuf-Louchart, Steve Lancel, Yasmine Sebti, Benoit Pourcet, Anne Loyens, Stéphane Delhaye, Christian Duhem, Justine Beauchamp, Lise Ferri, Quentin Thorel, Alexis Boulinguiez, Mathilde Zecchin, Julie Dubois-Chevalier, Jérôme Eeckhoute, Logan T. Vaughn, Peter J. Roach, Christian Dani, Bartholomew A. Pederson, Stéphane D. Vincent, Bart Staels, Hélène Duez
Published 2019-11-01

A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.

by David B Savage, Lanmin Zhai, Balasubramanian Ravikumar, Cheol Soo Choi, Johanna E Snaar, Amanda C McGuire, Sung-Eun Wou, Gemma Medina-Gomez, Sheene Kim, Cheryl B Bock, Dyann M Segvich, Bhavana Solanky, Dinesh Deelchand, Antonio Vidal-Puig, Nicholas J Wareham, Gerald I Shulman, Fredrik Karpe, Roy Taylor, Bartholomew A Pederson, Peter J Roach, Stephen O'Rahilly, Anna A DePaoli-Roach
Published 2008-01-01

Correction: A Prevalent Variant in Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

by David B Savage, Lanmin Zhai, Balasubramanian Ravikumar, Cheol Soo Choi, Johanna E Snaar, Amanda C McGuire, Sung-Eun Wou, Gemma Medina-Gomez, Sheene Kim, Cheryl B Bock, Dyann M Segvich, Bhavana Solanky, Dinesh Deelchand, Antonio Vidal-Puig, Nicholas J Wareham, Gerald I Shulman, Fredrik Karpe, Roy Taylor, Bartholomew A Pederson, Peter J Roach, Stephen O'Rahilly, Anna A DePaoli-Roach
Published 2008-12-01