Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Seok-Ho Yu"'
Autor:
Xianzun Tao, Yi Zhu, Zoraida Diaz-Perez, Seok-Ho Yu, Jackson R. Foley, Tracy Murray Stewart, Robert A. Casero Jr., Richard Steet, R. Grace Zhai
Publikováno v:
JCI Insight, Vol 7, Iss 13 (2022)
Polyamine dysregulation plays key roles in a broad range of human diseases from cancer to neurodegeneration. Snyder-Robinson syndrome (SRS) is the first known genetic disorder of the polyamine pathway, caused by X-linked recessive loss-of-function mu
Externí odkaz:
https://doaj.org/article/a6c751f5d2ab41d29f14f66b38a91469
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 88 (2020)
The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number of nov
Externí odkaz:
https://doaj.org/article/58d645a1e408479789067749059c847f
Autor:
Kirsten Meagher, Michael J. Lyons, Seok-Ho Yu, Tong Wang, Cindy Skinner, Maria B. Cassera, Paul Goldberg, Neggy Rismanchi, Kali Wiggins, Dillon Y. Chen, Emilio F. Merino, Raymond J. Louie, Richard Steet, Heather Flanagan-Steet
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Variants in NUS1 are associated with a congenital disorder of glycosylation, developmental and epileptic encephalopathies, and are possible contributors to Parkinson’s disease pathogenesis. How the diverse functions of the NUS1-encoded Nog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791bda22dbd73e59f95b856eea9fb861
http://europepmc.org/articles/PMC8263489
http://europepmc.org/articles/PMC8263489
Autor:
Yu-Jin Kim, Dong-Hyun Shin, Seok-Ho Yu, Hack-Youn Kim, Dong-Wook Kim, Ji-Won Yoon, Kyu-Min Kang, Min-Seock Jang, Pil-Lip Lee
Publikováno v:
Resources Science Research. 2:86-95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9cca6521610eecf3ac786fbf9a80b63
https://doi.org/10.52346/rsr.2020.2.2.86
https://doi.org/10.52346/rsr.2020.2.2.86
Publikováno v:
Molecular Genetics and Metabolism. 138:107325
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d11e056984a2bbad3fa0506ad72cf317
https://doi.org/10.1016/j.ymgme.2022.107325
https://doi.org/10.1016/j.ymgme.2022.107325
Autor:
Michael Kulik, Heidi Ulrichs, Nadja Zeltner, Kazuhiro Aoki, Kevin A. Strauss, Mayumi Ishihara, Michelle Dookwah, Stephen Dalton, Richard Steet, Shannon K. Wagner, Michael Tiemeyer, Seok-Ho Yu
GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. This enzyme adds a single α3-linked sialic aci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81e174d3d1b13d73a47dc2e5cfd71229
https://doi.org/10.1101/2021.07.29.454399
https://doi.org/10.1101/2021.07.29.454399
Autor:
Richard Steet, Lance Wells, Seok-Ho Yu, Wei Cui, Peng Zhao, Thomas J. Hayman, Chatchai Phoomak, Joseph N. Contessa
Publikováno v:
Science Advances
A new method for detecting N-glycosylation reveals a role for the TRAP complex and a mechanism for cell state–specific regulation.
Asparagine (N)–linked glycosylation is required for endoplasmic reticulum (ER) homeostasis, but how this co- a
Asparagine (N)–linked glycosylation is required for endoplasmic reticulum (ER) homeostasis, but how this co- a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59064b13ea45b20a528e52942a8ee77b
http://europepmc.org/articles/PMC7810369
http://europepmc.org/articles/PMC7810369
Autor:
Ji-Seon Jang, Wan-Seok Seo, Bon-Hoon Koo, Hey-Geum Kim, Seok-Ho Yun, So-Hey Jo, Dae-Seok Bai, Young-Gyo Kim, Eun-Jin Cheon
Publikováno v:
Journal of Yeungnam Medical Science, Vol 41, Iss 1, Pp 30-38 (2024)
Background Although Korea ranks first in the suicide rate of elderly individuals, there is limited research on those who attempt suicide, with preventive measures largely based on population-based studies. We compared the demographic and clinical cha
Externí odkaz:
https://doaj.org/article/534d3a2ce5a34824a8618c2dfff9eeea
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 88, p 88 (2020)
International Journal of Neonatal Screening
Volume 6
Issue 4
International Journal of Neonatal Screening
Volume 6
Issue 4
The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme &alpha
L-iduronidase. Newborn screening efforts for MPSI have greatly increased the numb
L-iduronidase. Newborn screening efforts for MPSI have greatly increased the numb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81eadefe318ef9c3810004dcf371f830
https://www.mdpi.com/2409-515X/6/4/88
https://www.mdpi.com/2409-515X/6/4/88