Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Nuria, Carrillo"'
Autor:
Marjan Huizing, Tal Yardeni, Federico Fuentes, May C.V. Malicdan, Petcharat Leoyklang, Alexander Volkov, Benjamin Dekel, Emily Brede, Jodi Blake, Alva Powell, Harish Chatrathi, Yair Anikster, Nuria Carrillo, William A. Gahl, Jeffrey B. Kopp
Publikováno v:
Kidney International Reports, Vol 4, Iss 10, Pp 1454-1462 (2019)
Introduction: Sialic acids are important contributors to the polyanionic component of the glomerular filtration barrier, which regulates permeability selectivity. Pathologic glomerular hyposialylation, associated with podocyte effacement, has been im
Externí odkaz:
https://doaj.org/article/95a3cca4c1844c918ae56167d6ccdca6
Autor:
Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo-Carrasco, Myra Woolery, Elizabeth Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 6, Pp 1222-1233 (2015)
24(S)-hydroxycholesterol [24(S)-HC] is a cholesterol metabolite that is formed almost exclusively in the brain. The concentrations of 24(S)-HC in cerebrospinal fluid (CSF) and/or plasma might be a sensitive marker of altered cholesterol metabolism in
Externí odkaz:
https://doaj.org/article/ff24b5d87b0d410f9097303d737e6491
Autor:
Melanie Quintana, William A. Gahl, Levent Bayman, Scott A. Van Wart, Colleen Jodarski, Claire T. Driscoll, Chia-Ying Liu, Nuria Carrillo, Carla Ciccone, Galen O. Joe, Scott M. Berry, Rebecca Parks, John D. Heiss, Bradley Class, May Christine V. Malicdan, Kennan Bradley, Petcharat Leoyklang, Joseph A. Shrader, John Perreault, Christopher S. Coffey, Christina Slota, Marjan Huizing
Publikováno v:
Genetics in Medicine
BASE-Bielefeld Academic Search Engine
BASE-Bielefeld Academic Search Engine
PURPOSE To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis. METHODS We conducted an open-labe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a82c0347e0a4ccd7fefea938b01afb7
http://europepmc.org/articles/PMC8553608
http://europepmc.org/articles/PMC8553608
Publikováno v:
Drugs in R&D
Background GNE myopathy is a rare genetic muscle disease resulting from deficiency in an enzyme critical for the biosynthesis of N-acetylneuraminic acid (Neu5Ac, sialic acid). The uncharged Neu5Ac precursor, N-acetylmannosamine (ManNAc), is under dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb0e0099a75b288121e52c5558d9e93
https://doi.org/10.1007/s40268-021-00343-6
https://doi.org/10.1007/s40268-021-00343-6
Autor:
Ronald M. Summers, William A. Gahl, Ronald Ouwerkerk, Chia-Ying Liu, Joseph A. Shrader, Jianhua Yao, Nuria Carrillo, Ami Mankodi, Galen O. Joe, William Kovacs
Publikováno v:
Neurology
ObjectiveTo characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).MethodsSkeletal muscle imaging of the lower extremities was performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72dc1f384c8b571a25286307ae50b19c
https://doi.org/10.1212/wnl.0000000000011231
https://doi.org/10.1212/wnl.0000000000011231
Autor:
Bernd C. Schwahn, Gerard T. Berry, Saikat Santra, Hilary Vernon, Hong Li, J. Lawrence Merritt, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight Koeberl, Barbara Burton, Stephanie Grunewald, Thomas Morgan, George Diaz, Can Ficicioglu, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d98e19219ff55e05aaaa43b72e7a2355
https://doi.org/10.1016/j.ymgme.2023.107476
https://doi.org/10.1016/j.ymgme.2023.107476
Autor:
Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107475
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2becc8fbe21f519d92c16a7196b660af
https://doi.org/10.1016/j.ymgme.2023.107475
https://doi.org/10.1016/j.ymgme.2023.107475
Autor:
Jessica M. Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol
Publikováno v:
Molecular Genetics and Metabolism. 135:280
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4161bf43f6b5742dc401887b21688c4
https://doi.org/10.1016/j.ymgme.2022.01.054
https://doi.org/10.1016/j.ymgme.2022.01.054
Autor:
Petcharat Leoyklang, Marjan Huizing, William A. Gahl, Nuria Carrillo, Jeffrey B. Kopp, Jodi Blake, Kenneth J. Wilkins, Federico Fuentes
Publikováno v:
Kidney360
N-acetylneuraminic acid (Neu5Ac, sialic acid) is a negatively charged monosaccharide, and the predominant form of sialic acid in human cells (1). Sialic acid is typically found as the terminal monosaccharide on glycoconjugates, where it plays a role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e5905337e41af129593cfaa1bd4afb
https://europepmc.org/articles/PMC8104432/
https://europepmc.org/articles/PMC8104432/
Autor:
Bradley Class, Yifan Shi, Xin Xu, Michael Zhang, Amy Wang, Wanjing Liu, William A. Gahl, Carla Ciccone, Meng Fang, Nuria Carrillo, Guodong Gu, Marjan Huizing
Publikováno v:
Biomed Chromatogr
The biosynthesis of sialic acid (Neu5Ac) leads to the intracellular production of cytidine-5'-monophospho-N-acetylneuraminic acid (CMP-Neu5Ac), the active sialic acid donor to nascent glycans (glycoproteins and glycolipids) in the Golgi. UDP-N-acetyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd4b4e9e0a206d4097559516d07d6c3
https://europepmc.org/articles/PMC8336284/
https://europepmc.org/articles/PMC8336284/