المؤلفون: 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

المصدر: Cell Metab

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Glycogenolysis, Physiology, Article, 03 medical and health sciences, chemistry.chemical_compound, Glycogen phosphorylase, Mice, 0302 clinical medicine, N-linked glycosylation, Glucosamine, medicine, Glycogen storage disease, Animals, Glycogen synthase, Molecular Biology, Cells, Cultured, Mice, Knockout, Glycogen, biology, Brain, Cell Biology, medicine.disease, carbohydrates (lipids), Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Glycogen Synthase, chemistry, Biochemistry, Lafora Disease, biology.protein, Female, Protein Processing, Post-Translational, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837412de53a30e091117ae4b28c80e34
https://pubmed.ncbi.nlm.nih.gov/34043942

المؤلفون: Michael Wetter, David Goulding, Derek Pickard, Michael Kowarik, Charles J Waechter, Gordon Dougan, Michael Wacker

المصدر: PLoS ONE, Vol 7, Iss 9, p e45609 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3448643?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bb34846adc6d4a08abf8ede39f4837bc

المؤلفون: Luc Régal, Katie Clarkson, Katherine Lachlan, Kati J. Buckingham, Charles J. Waechter, F. Sessions Cole, Kimiyo Raymond, Rita Barone, Daisy Rymen, Derek Wong, Arve Vøllo, Gert Matthijs, Jay Shendure, Alina T. Midro, Erik A. Eklund, Hudson H. Freeze, Rudy Van Coster, Gregory M. Cooper, Jeffrey S. Rush, Sergey A. Shiryaev, Luísa Diogo, Philip James, Andrew J. Kornberg, Laurie A. Demmer, Jose E. Abdenur, Valerie Race, Maria Kibaek, Shawn O'Connor, Lynne A. Wolfe, Amarilis Sanchez-Valle, Agata Fiumara, Miao He, Raymond Y. Wang, Alex J. Fay, Martin Kircher, Rebecca D. Ganetzky, William A. Gahl, Erika Souche, Füsun Alehan, Amy Yang, Michael J. Bamshad, Himanshu Goel, S. Lane Rutledge, Jane E. Brumbaugh, Susan Sparks, Daniel Katz, Can Ficicioglu, Bobby G. Ng, Jaak Jaeken, Heidi Peters, Christina Lam, Gerard T. Berry, Liesbeth Keldermans, Eric Vilain, Tim Wood, Lyndsay A. Harshman, Deborah A. Nickerson, Pamela Trapane, Joy Yaplito-Lee

المصدر: Human Mutation. 37:653-660

مصطلحات موضوعية: Genetics, Mannosyltransferase, Mutation, Glycosylation, Mannose, Biology, medicine.disease_cause, Phenotype, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, N-linked glycosylation, chemistry, 030225 pediatrics, medicine, Biomarker (medicine), Lipid glycosylation, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::37d794721c393eee4b671097cc801db2
https://doi.org/10.1002/humu.22983

المؤلفون: Fredrick O. Onono, Charles J. Waechter, Thangaiah Subramanian, Jeffrey S. Rush, Karunai Leela Subramanian, Hans Peter Spielmann

المصدر: Current Chemical Biology. 9:123-141

مصطلحات موضوعية: 010405 organic chemistry, Chinese hamster ovary cell, Endoplasmic reticulum, Flippase, 010402 general chemistry, Bioinformatics, Proteomics, 01 natural sciences, Article, 0104 chemical sciences, chemistry.chemical_compound, Dolichol, chemistry, Membrane protein, Biosynthesis, Biochemistry, Cytoplasm

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::599505193ffe9b1a232b8706e07a88ff
https://doi.org/10.2174/2212796810666160216221610

المؤلفون: Fabiana Fernandez, Barbara Schenk, Charles J. Waechter

مصطلحات موضوعية: Glycosylation, Molecular Sequence Data, Endoplasmic Reticulum, Models, Biological, Biochemistry, chemistry.chemical_compound, Biosynthesis, Animals, Glycosyl, Glycoproteins, Dolichol Phosphates, chemistry.chemical_classification, Alkyl and Aryl Transferases, Endoplasmic reticulum, Oligosaccharide, Lipid Metabolism, Lipids, Cell biology, carbohydrates (lipids), Dolichyl phosphate, Eukaryotic Cells, Enzyme, Carbohydrate Sequence, Prokaryotic Cells, chemistry, Membrane protein, Cytoplasm, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1753eed7c7e04d0d2dd91b2012d94f2a
http://doc.rero.ch/record/302169/files/cwe064.pdf

المؤلفون: Lakshmi Mehta, Kevin P. Campbell, Charles J. Waechter, Tobias Willer, Amy Yang, Bobby G. Ng, Jeffrey S. Rush, Kimiyo Raymond, Hudson H. Freeze, Steven A. Moore

المصدر: Molecular Genetics and Metabolism. 110:345-351

مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Biopsy, Endocrinology, Diabetes and Metabolism, Biology, Mannosyltransferases, Biochemistry, Muscular Dystrophies, Article, Diagnosis, Differential, Congenital Disorders of Glycosylation, Endocrinology, Internal medicine, Gene Order, Genetics, medicine, Humans, Missense mutation, Muscular dystrophy, Muscle, Skeletal, Molecular Biology, Muscle biopsy, medicine.diagnostic_test, Wild type, Infant, Exons, medicine.disease, Hypotonia, Enzyme Activation, Mutation, Disease Progression, Congenital muscular dystrophy, Female, medicine.symptom, Congenital disorder of glycosylation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e124769a2020c43262db85c8b0de274
https://doi.org/10.1016/j.ymgme.2013.06.016

المؤلفون: William C. Sessa, Jeffrey S. Rush, Kenneth D. Harrison, Eon Joo Park, Andrew Kuo, Ningguo Gao, Charles J. Waechter, Mark A. Lehrman

المصدر: The EMBO Journal. 30:2490-2500

مصطلحات موضوعية: chemistry.chemical_classification, General Immunology and Microbiology, General Neuroscience, Biology, General Biochemistry, Genetics and Molecular Biology, Dolichol monophosphate, chemistry.chemical_compound, Enzyme activator, Protein structure, Dolichol, chemistry, Biochemistry, N-linked glycosylation, Complementary DNA, lipids (amino acids, peptides, and proteins), Glycosyl, Glycoprotein, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f5758a4b816a2d7c6080dff376966bf3
https://doi.org/10.1038/emboj.2011.147

المؤلفون: Charles J. Waechter, Sergey V. Matveev, Ziqiang Guan, Jeffrey S. Rush, Christian R. H. Raetz

المصدر: Glycobiology. 20:1585-1593

مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Mutant, Isopentenyl pyrophosphate, Gene Expression, CHO Cells, Saccharomyces cerevisiae, Biology, Endoplasmic Reticulum, Biochemistry, chemistry.chemical_compound, Cricetulus, Biosynthesis, Dimethylallyltranstransferase, Cricetinae, Escherichia coli, Animals, Alkyl and Aryl Transferases, Escherichia coli Proteins, Endoplasmic reticulum, Chinese hamster ovary cell, Genetic Complementation Test, Molecular biology, Recombinant Proteins, Yeast, chemistry, Mutation, Microsome, Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126ea89742b6bdedd22e7e1840a67ae9
https://doi.org/10.1093/glycob/cwq107

المؤلفون: Charles J. Waechter, Ningguo Gao, Jeffrey S. Rush, Mark A. Lehrman

المصدر: Journal of Biological Chemistry. 283:4087-4093

مصطلحات موضوعية: Cytoplasm, Phosphatase, Biology, Endoplasmic Reticulum, Biochemistry, chemistry.chemical_compound, Bacitracin, Dolichol, Biosynthesis, Microsomes, Animals, Molecular Biology, Dolichol kinase, Dolichol Phosphates, Hydrolysis, Endoplasmic reticulum, Brain, Cell Biology, Flippase, Cell biology, chemistry, Microsome, Cattle, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f3c31ed213e7eefa1984ff50041a6f
https://doi.org/10.1074/jbc.m707067200

المؤلفون: Charles J. Waechter, Preetha Shridas

المصدر: Journal of Biological Chemistry. 281:31696-31704

مصطلحات موضوعية: Cytoplasm, Molecular Sequence Data, CHO Cells, Biology, Endoplasmic Reticulum, Biochemistry, Conserved sequence, chemistry.chemical_compound, Dolichol, Cricetinae, Escherichia coli, Animals, Humans, CTP binding, Amino Acid Sequence, Molecular Biology, Dolichol kinase, Binding Sites, Endoplasmic reticulum membrane, Sequence Homology, Amino Acid, Endoplasmic reticulum, C-terminus, Brain, Membrane Proteins, Cell Biology, Phosphotransferases (Alcohol Group Acceptor), Transmembrane domain, chemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e3279d1f1999bc4af31adae59c824c
https://doi.org/10.1016/s0021-9258(19)84083-8