Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Nina DiPrimio"'
Autor:
Jessica P. Lao, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Joshua D. Mast, Ethan O. Perlstein
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 413-423 (2019)
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally. PMM2 orthologs are present in model organisms, including the budding yeast Saccharomyces cere
Externí odkaz:
https://doaj.org/article/542ab2e0ffa24713af203544d7bf1098
Autor:
Sangeetha Iyer, Feba S. Sam, Nina DiPrimio, Graeme Preston, Jan Verheijen, Kausalya Murthy, Zachary Parton, Hillary Tsang, Jessica Lao, Eva Morava, Ethan O. Perlstein
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG. To identify clinically actio
Externí odkaz:
https://doaj.org/article/73f5388e14c348678bb225c904595475
Autor:
Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice. Proteasomal and mi
Externí odkaz:
https://doaj.org/article/51ce9e686f5d4c358384748c161c8bc9
Autor:
Andrea Hadjikyriacou, Sangeetha Iyer, Joshua D. Mast, Nina DiPrimio, John Concannon, Joshua Ketterman, Frederic Sigoillot, Tamy P. Rodriguez, Feba S. Sam, Hillary Tsang, Madeleine Prangley, Julide Bilen, Kausalya Murthy, Tom A. Hartl, Christophe Antczak, Jeremy L Jenkins, Nathan T. Ross, Beat Nyfeler, Rishi K. Jain, John A. Tallarico, Ethan O. Perlstein, Stephen M. Canham
Invertebrate model organisms (the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster) are valuable tools to bridge the gap between traditional in vitro discovery and preclinical animal models. Invertebrate model organisms are p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96724114f0536d920b8fc593b93f63bf
https://doi.org/10.1101/2021.03.05.434120
https://doi.org/10.1101/2021.03.05.434120
Autor:
Ethan O. Perlstein, Nina DiPrimio, Hillary Tsang, Sangeetha Iyer, Madeleine Prangley, Zachary Parton, Tamy Portillo Rodriguez, Joshua D. Mast, Feba S. Sam
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
N-glycanase 1/NGLY1 Deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 Deficiency has been studied in model organisms such as yeast, worms, flies and mice. Proteasomal and mito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe60fd07751160528511065566b278b
http://dmm.biologists.org/content/12/11/dmm040576
http://dmm.biologists.org/content/12/11/dmm040576
Autor:
Sangeetha, Iyer, Joshua D, Mast, Hillary, Tsang, Tamy P, Rodriguez, Nina, DiPrimio, Madeleine, Prangley, Feba S, Sam, Zachary, Parton, Ethan O, Perlstein
Publikováno v:
Disease Models & Mechanisms
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice. Proteasomal and mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a5ca591fba86909cd91c3f044726d78b
https://pubmed.ncbi.nlm.nih.gov/31615832
https://pubmed.ncbi.nlm.nih.gov/31615832
Autor:
Joshua D. Mast, Feba S. Sam, Sangeetha Iyer, Madeleine Prangley, Nina DiPrimio, Zachary Parton, Ethan O. Perlstein, Tamy Portillo Rodriguez, Hillary Tsang
N-glycanase 1/NGLY1 Deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 Deficiency has been studied in model organisms such as yeast, worms, flies and mice. Proteasomal and mito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16f9405c762d4bc117663285ecbcbe5
Autor:
Jessica P. Lao, Feba S. Sam, Nina DiPrimio, Joshua D. Mast, Ethan O. Perlstein, Madeleine Prangley
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 413-423 (2019)
G3: Genes|Genomes|Genetics
G3: Genes|Genomes|Genetics
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally. PMM2 orthologs are present in model organisms, including the budding yeastSaccharomyces cerev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a27bd7ca675d42473548a18f35d8c9
https://doi.org/10.1101/414862
https://doi.org/10.1101/414862
Autor:
J. Christopher Anderson, Keith Fraser, Binh Vo, Kevin P. Battaile, Christopher Bystroff, David D. Weis, Scott Lovell, John Karanicolas, Theodore R. Keppel, Chet Egan, Nina DiPrimio, Yan Xia
Publikováno v:
Journal of the American Chemical Society, vol 135, iss 50
The ability to selectively activate function of particular proteins via pharmacological agents is a longstanding goal in chemical biology. Recently, we reported an approach for designing a de novo allosteric effector site directly into the catalytic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e4e35a2bf90b1b38af5993f45ba430e
https://doi.org/10.1021/ja407644b
https://doi.org/10.1021/ja407644b
Autor:
Dawn E. Bowles, Joseph E. Rabinowitz, Mavis Agbandje-McKenna, Paul E. Monahan, Chengwen Li, Aravind Asokan, Nina DiPrimio, Richard Jude Samulski, Matthew L. Hirsch
Adeno-associated virus (AAV) vectors have the potential to promote long-term gene expression. Unfortunately, humoral immunity restricts patient treatment and in addition provides an obstacle to the potential option of vector readministration. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4af9695b465dd348aab73c86d422bd
https://europepmc.org/articles/PMC3421647/
https://europepmc.org/articles/PMC3421647/