Zobrazeno 1 - 10
of 138
pro vyhledávání: '"Anna A. Depaoli-Roach"'
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, Jr., Christos Tzitzilonis
Publikováno v:
Cell Reports, Vol 40, Iss 1, Pp 111041- (2022)
Summary: 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 molecu
Externí odkaz:
https://doaj.org/article/48c6548bd0854270915cfc7f6ac2d38f
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2186-2198 (2020)
Abstract 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 po
Externí odkaz:
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
Autor:
Pablo Cordero, Victoria N. Parikh, Elizabeth T. Chin, Ayca Erbilgin, Michael J. Gloudemans, Ching Shang, Yong Huang, Alex C. Chang, Kevin S. Smith, Frederick Dewey, Kathia Zaleta, Michael Morley, Jeff Brandimarto, Nicole Glazer, Daryl Waggott, Aleksandra Pavlovic, Mingming Zhao, Christine S. Moravec, W. H. Wilson Tang, Jamie Skreen, Christine Malloy, Sridhar Hannenhalli, Hongzhe Li, Scott Ritter, Mingyao Li, Daniel Bernstein, Andrew Connolly, Hakon Hakonarson, Aldons J. Lusis, Kenneth B. Margulies, Anna A. Depaoli-Roach, Stephen B. Montgomery, Matthew T. Wheeler, Thomas Cappola, Euan A. Ashley
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
The genetic and pathogenetic basis of heart failure is incompletely understood. Here, the authors present a high-fidelity tissue collection from rapidly preserved failing and non-failing control hearts which are used for eQTL mapping and network anal
Externí odkaz:
https://doaj.org/article/2ca5a8edf42d48a4acecfce1aa70adac
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:
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:
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
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