Zobrazeno 1 - 10
of 138
pro vyhledávání: '"Anna A DePaoli-Roach"'
Autor:
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
Publikováno v:
PLoS Genetics, Vol 7, Iss 4, p e1002037 (2011)
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in n
Externí odkaz:
https://doaj.org/article/8ddf193753a84e228d789cf340a00583
Autor:
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
Publikováno v:
PLoS Medicine, Vol 5, Iss 12 (2008)
Externí odkaz:
https://doaj.org/article/d1e6e766999a48f0b791226f47bd8ce9
Autor:
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
Publikováno v:
PLoS Medicine, Vol 5, Iss 1, p e27 (2008)
Stored glycogen is an important source of energy for skeletal muscle. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised, but rare. We previously reported that a frameshift/premature stop mutation in PPP
Externí odkaz:
https://doaj.org/article/6ce03d253c6846a6a8db7e41f2d27e2d
Neuron-astrocyte metabolic coupling facilitates spinal plasticity and maintenance of persistent pain
Autor:
Sebastián Marty-Lombardi, Shiying Lu, Wojciech Ambroziak, Hagen Wende, Katrin Schrenk-Siemens, Anna A. DePaoli-Roach, Anna M. Hagenston, Anke Tappe-Theodor, Manuela Simonetti, Rohini Kuner, Thomas Fleming, Jan Siemens
Long-lasting pain stimuli can trigger maladaptive changes in the spinal cord, reminiscent of plasticity associated with memory formation. Metabolic coupling between astrocytes and neurons has been implicated in neuronal plasticity and memory formatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::371da4c40f6793037b14a7b628fac1cc
https://doi.org/10.1101/2022.12.03.518519
https://doi.org/10.1101/2022.12.03.518519
Autor:
Justin J. Crowder, Erin E. Chown, Bret M. Evers, Mitchell A. Sullivan, Jordan W. Strober, Bartholomew A. Pederson, Peter J. Roach, Berge A. Minassian, Cody S. Bennett, Xiaochu Zhao, Anna A. DePaoli-Roach, H. Orhan Akman, Ami M. Perri, Yunlin Xue, Peixiang Wang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2186-2198 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly bran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7dca86f316ac2c81dceff9e55f893e
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
Autor:
David S. Watt, Thomas D. Hurley, Mykhaylo S. Frasinyuk, Peter J. Roach, Dyann M. Segvich, Krishna K. Mahalingan, Vimbai M. Chikwana, Cynthia A. Morgan, S. P. Bondarenko, Przemyslaw Wyrebek, Galyna P. Mrug, Anna A. DePaoli-Roach, Buyun Tang
Publikováno v:
J Med Chem
The over-accumulation of glycogen appears as a hallmark in various glycogen storage diseases (GSDs), including Pompe, Cori, Andersen and Lafora disease. Accumulating evidence suggests that suppression of glycogen accumulation represents a potential t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c645e897709680fc8bf4c7f1d4e3ca6
https://doi.org/10.1021/acs.jmedchem.9b01851
https://doi.org/10.1021/acs.jmedchem.9b01851
Autor:
Nathan M. Fastman, Yuxi Liu, Vyas Ramanan, Hanne Merritt, Eileen Ambing, Anna A. DePaoli-Roach, Peter J. Roach, Thomas D. Hurley, Kevin T. Mellem, Julie C. Ullman, Eric Green, David Morgans, Christos Tzitzilonis
Publikováno v:
Cell Reports. 40:111041
Glycogen is the primary energy reserve in mammals, and dysregulation of glycogen metabolism can result in glycogen storage diseases (GSDs). In muscle, glycogen synthesis is initiated by the enzymes glycogenin-1 (GYG1), which seeds the molecule by aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe6c1e2a29f75f657251cbb2ea70987
https://doi.org/10.1016/j.celrep.2022.111041
https://doi.org/10.1016/j.celrep.2022.111041
Autor:
Harrison A. Clarke, Craig W. Vander Kooi, Dustin D. Armstrong, Anna A. DePaoli-Roach, Richard R. Drake, Kia H. Markussen, Richard E. Taylor, Jessica K. A. Macedo, Lyndsay E.A. Young, Lindsey R. Conroy, Charles J. Waechter, Matthew S. Gentry, Ronald C. Bruntz, Ramon C. Sun, Christine Fillmore Brainson, Alexandra E. Stanback, Buyun Tang, William C. Sanders, Shane Emanuelle, Dyann M. Segvich, Elizabeth J. Allenger, M. Kathryn Brewer, Peter J. Roach, Krishna K. Mahalingan, Robert Shaffer, Annette Mestas, Vimbai M. Chikwana, Zhengqiu Zhou, Thomas D. Hurley, Tara R. Hawkinson, Alberto Rondon, Christopher J. Contreras, Lance A. Johnson
Publikováno v:
Cell Metab
Summary Glycosylation defects are a hallmark of many nervous system diseases. However, the molecular and metabolic basis for this pathology is not fully understood. In this study, we found that N-linked protein glycosylation in the brain is metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837412de53a30e091117ae4b28c80e34
https://pubmed.ncbi.nlm.nih.gov/34043942
https://pubmed.ncbi.nlm.nih.gov/34043942
Autor:
Grant L. Austin, John J. McCarthy, Annette Uittenbogaard, Jill Zeller, Tracy R. McKnight, Anna A. DePaoli-Roach, Dustin Armstrong, Dyann M. Segvich, M. Kathryn Brewer, James R. Pauly, Bradley L. Hodges, Matthew S. Gentry, Peter J. Roach
Lafora disease (LD) is a fatal childhood epilepsy and a non-classical glycogen storage disorder with no effective therapy or cure. LD is caused by recessive mutations in theEPM2AorEPM2Bgenes that encode the glycogen phosphatase laforin and an E3 ubiq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9082b3cf792132c76aee106501cc36e1
Autor:
Alex C.Y. Chang, Ching Shang, Hongzhe Li, Christine S. Moravec, Christine Malloy, Thomas P. Cappola, Stephen B. Montgomery, Pablo Cordero, Daniel Bernstein, Anna A. DePaoli-Roach, Euan A. Ashley, Sridhar Hannenhalli, Andrew C. Connolly, Michael Morley, Kenneth B. Margulies, Yong Huang, Frederick Dewey, Kevin S. Smith, Hakon Hakonarson, Daryl Waggott, Aldons J. Lusis, Jamie Skreen, Kathia Zaleta, Aleksandra Pavlovic, Scott Ritter, Nicole L. Glazer, Jeff Brandimarto, Elizabeth T Chin, Mingming Zhao, Ayca Erbilgin, W.H. Wilson Tang, Victoria N. Parikh, Matthew T. Wheeler, Michael J. Gloudemans, Mingyao Li
Publikováno v:
Nature Communications
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f68e756e5a75556a2029900783f339
http://europepmc.org/articles/PMC6591478
http://europepmc.org/articles/PMC6591478