Výsledky vyhledávání - Heather Flanagan‐Steet
- Zobrazuji výsledky 1 - 5 z 5
-
1
Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosoma... Autor Yi Qian, Eline van Meel, Heather Flanagan‐Steet, Alex Yox, Richard Steet, Stuart Kornfeld
Vydáno 2014Artigo -
2
-
3
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency Autor Abigail Cline, Ningguo Gao, Heather Flanagan‐Steet, Vandana Sharma, S. M. A. Rosa, R.N. Sonon, Parastoo Azadi, Kirsten C. Sadler, Hudson H. Freeze, Mark A. Lehrman, Richard Steet
Vydáno 2012Artigo -
4
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation Autor Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan‐Steet, Chin‐Fu Chen, Fan Xiang, Frank Bartel, Marharyta Petukh, Ayla R Pittman, Robert A. Saul, Alka Chaubey, Emil Alexov, Michael Tiemeyer, Richard Steet, Charles E. Schwartz
Vydáno 2013Artigo -
5
Tracer metabolomics reveals the role of aldose reductase in glycosylation Autor Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes‐Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew C. Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamás Kozicz, Heather Flanagan‐Steet, Bart Ghesquière, Éva Morava
Vydáno 2023Artigo
Vyhledávací nástroje:
Související témata
Biochemistry
Biology
Cell biology
Gene
Chemistry
Enzyme
Genetics
Glycosylation
Mannose
Mutation
Receptor
Zebrafish
Aldose reductase
Aldose reductase inhibitor
Endocrinology
Exome sequencing
Fibroblast growth factor
Function (biology)
Glycolipid
Glycolysis
Growth factor
Hexokinase
Internal medicine
Lactosylceramide
Lysosome
Mannose 6-phosphate
Medicine
Metabolism
Missense mutation
Molecular biology