Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marcella E. Comly"'
Publikováno v:
PLoS Genetics, Vol 16, Iss 10, p e1008821 (2020)
PLoS Genetics
PLoS Genetics
The conserved O-GlcNAc transferase OGT O-GlcNAcylates serine and threonine residues of intracellular proteins to regulate their function. OGT is required for viability in mammalian cells, but its specific roles in cellular physiology are poorly under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442ad0fd1b04815ea933ba94b8e9d0dd
https://doaj.org/article/3fa1c93e13fa43c99537f5a94d3edc83
https://doaj.org/article/3fa1c93e13fa43c99537f5a94d3edc83
Autor:
Julia Riedy, Marcella E. Comly, Michelle R. Bond, John A. Hanover, Joseph Shiloach, Melissa M St. Amand
Publikováno v:
Journal of Biological Chemistry. 293:13673-13681
O-GlcNAcylation is an abundant posttranslational protein modification in which the monosaccharide O-GlcNAc is added to Ser/Thr residues by O-GlcNAc transferase and removed by O-GlcNAcase. Analyses of O-GlcNAc–mediated signaling and metabolic phenom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8860b064d627c6ca28f7941de7325560
https://doi.org/10.1074/jbc.ra118.004059
https://doi.org/10.1074/jbc.ra118.004059
Autor:
Peter G. Pentchev, David A. Wenger, Robert Rousson, Marcella E. Comly, Marie T. Vanier, Roscoe O. Brady
Publikováno v:
Clinical Genetics. 33:331-348
Seventy patients were selected to cover the range of variability in clinical expression of Niemann-Pick disease group C (NP-C). Their individual main clinical features and course of the disease (age at discovery and type of visceromegaly, age at onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0156e21fd78b229094dc8a8cf590bbb4
https://doi.org/10.1111/j.1399-0004.1988.tb03460.x
https://doi.org/10.1111/j.1399-0004.1988.tb03460.x
Autor:
Silvia Santamarina-Fojo, Nancy K. Dwyer, Christian A. Combs, Catherine L. Knapper, Joan Blanchette-Mackie, Stephen J. Demosky, Edward B. Neufeld, H. Bryan Brewer, John A. Stonik, Adele Cooney, Alan T. Remaley, Marcella E. Comly
Publikováno v:
Journal of Biological Chemistry. 279:15571-15578
We have previously established that the ABCA1 transporter, which plays a critical role in the lipidation of extracellular apolipoprotein acceptors, traffics between late endocytic vesicles and the cell surface (Neufeld, E. B., Remaley, A. T., Demosky
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc303d294fbd724cdb6cf4a06bcb80f7
https://doi.org/10.1074/jbc.m314160200
https://doi.org/10.1074/jbc.m314160200
Autor:
Rivka Carmi, Laura Liscum, Marcella E. Comly, Christine R. Kaneski, Marsha Zeigler, Adele Cooney, Roscoe O. Brady, Yiannis A. Ioannou, Peter G. Pentchev, Marc C. Patterson, James W. Nagle, E. Joan Blanchette-Mackie, Maureen E. Higgins, David B. Krizman, J Sokol, Raymond R. O'Neill, Jill A. Morris, Jerome F. Strauss, Stephen L. Sturley, Christiano Cummings, O. P. van Diggelen, Ta-Yuan Chang, Edward B. Neufeld, Danilo A. Tagle, Katherine G. Coleman, Jessie Z. Gu, Kousaku Ohno, Stacie K. Loftus, M H Polymeropoulos, Nancy K. Dwyer, David Markie, Melissa A. Rosenfeld, Marie T. Vanier, Anthony Brown, Eugene D. Carstea, Milan Elleder, Dana Zhang, William J. Pavan
Publikováno v:
Science, 277, 228-231. American Association for the Advancement of Science
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, a gene (NPC1)with insertion, deletion, and missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5537b8141c320370b8c9c9951d5ad1a0
https://doi.org/10.1126/science.277.5323.228
https://doi.org/10.1126/science.277.5323.228
Autor:
Peter G. Pentchev, Roscoe O. Brady, Ehud Goldin, Adele Cooney, Marcella E. Comly, Calvin F. Roff, Joan Blanchette-Mackie
Publikováno v:
American Journal of Medical Genetics. 42:593-598
NPC disease is an autosomal recessive neurovisceral storage disorder. A pleiotropic array of secondary enzymatic and storage abnormalities has in the past obscured a cohesive understanding of the underlying metabolic basis of this disorder. Recent fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a57814b99fc76bef1610c4e9db19a278
https://doi.org/10.1002/ajmg.1320420433
https://doi.org/10.1002/ajmg.1320420433
Autor:
Peter G. Pentchev, Marcella E. Comly, Stephen P. F. Miller, Marie T. Vanier, Ehud Goldin, Adele Cooney, Anthony Brown, Calvin F. Roff, Roscoe O. Brady
Publikováno v:
Developmental Neuroscience. 13:315-319
Niemann-Pick Type C (NPC) disease is a cholesterol lipidosis resulting from defective postlysosomal cholesterol transport. In normal cells this segment of cholesterol trafficking is inhibited by treatment with either U18666A or imipramine. Other comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e6d461bf504bf960ce012cd995874b
https://doi.org/10.1159/000112179
https://doi.org/10.1159/000112179
Autor:
Chris Kaneski, Ehud Goldin, Harold T. Pye, Peter G. Pentchev, Charles E. Argoff, Marie T. Vanier, Marcella E. Comly, Howard S. Kruth, Roscoe O. Brady, Joan Blanchette-Mackie
Publikováno v:
Biochimica et biophysica acta. 1096(4)
A uniquely attenuated disruption of cholesterol homeostasis has been characterized in certain Niemann-Pick, type C (NP-C) fibroblasts. Uptake of LDL-cholesterol by cultured fibroblasts derived from two clinically affected brothers with this variant b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01a9e64931f2d8c7314caa239a4514b7
https://pubmed.ncbi.nlm.nih.gov/2065103
https://pubmed.ncbi.nlm.nih.gov/2065103
Autor:
Anthony Brown, Nancy K. Dwyer, Marcella E. Comly, E. Joan Blanchette-Mackie, Christine R. Kaneski, Roscoe O. Brady, Charles E. Argoff, Peter G. Pentchev
Publikováno v:
Biochemical and biophysical research communications. 171(1)
Type C Niemann-Pick disease (NPC) is an autosomal recessive neurovisceral storage disorder in which defective intracellular cholesterol processing has been demonstrated in fibroblasts from NPC patients and obligate heterozygotes. In the present paper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c988800f626fa52487d101a2accb190
https://pubmed.ncbi.nlm.nih.gov/2393397
https://pubmed.ncbi.nlm.nih.gov/2393397
Autor:
Roscoe O. Brady, Marie T. Vanier, Shutish C. Patel, Peter G. Pentchev, Howard S. Kruth, Marcella E. Comly, David A. Wenger
Publikováno v:
Proceedings of the National Academy of Sciences. 82:8247-8251
The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of sphingomyelinase activity [Pentchev, P. G., Boothe, A. D., Kruth, H.S., Weintroub, H., Stivers, J. & Brady, R. O. (1984) J. B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eebb4b602cddef5e26893f7f41b4f625
https://doi.org/10.1073/pnas.82.23.8247
https://doi.org/10.1073/pnas.82.23.8247