Results 1 to 10 of about 1,400 (108)

Pharmacokinetics studies of 4′-cyano-2′-deoxyguanosine, a potent inhibitor of the hepatitis B virus, in rats

, 2018
Objectives 4′-cyano-2′-deoxyguanosine (CdG), a novel nucleoside analogue, has a high degree of antiviral activity against the chronic hepatitis B virus (HBV).
Hiroaki Mitsuya, Takako Ishiguro, Shuhei Imoto, Keishi Yamasaki, Mai Hashimoto, Satoru Kohgo, Masaki Otagiri, Kazuaki Taguchi   +7 more
core   +1 more source

COG5-CDG: Expanding the clinical spectrum [PDF]

, 2012
Background: The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation,
Régal, Luc, Sturiale, Luisa, Fung, Cheuk-Wing, Deconinck, Nicolas, Carlo Dionisi-Vici, François Foulquier, Luisa Sturiale, Gert Matthijs, Jaak Jaeken, Liesbeth Keldermans, Dionisi-Vici, Carlo, Jaeken, Jaak, Cheuk-wing Fung, Keldermans, Liesbeth, Rymen, Daisy, Daisy Rymen, Nicolas Deconinck, Rosnoblet, Claire, Race, Valérie, Matthijs, Gert, Claire Rosnoblet, Luc Régal, Foulquier, Francois, Valérie Race   +23 more
core   +1 more source

DataSheet1_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.pdf

, 2021
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis.
Kshitij Mankad (6749432), Preeya Rehsi (11774657), Nazreen Kamarus Jaman (11774654), Ulrike Löbel (3325251), Stephanie Grunewald (1460986), Robert H. Henderson (11774660)   +5 more
core   +1 more source

GDP-mannose: GlcNAc₂-PP-dolichol mannosyltransferase deficiency (CDG Ik): 5 new patients and 7 novel mutations

, 2010
International audienceBackground: In type I Congenital Disorders of Glycosylation (CDG I), proteins necessary for the biosynthesis of the lipid-linked oligosaccharide (LLO) required for protein N-glycosylation are defective.
Altuzarra, Cecilia, Barnérias, Christine, C. Barnerias, de Lonlay, Pascale, C. Le Bizec, A. Afenjar, S. Napuri, Napuri, Silvia, N. Seta, Moore, Stuart,, H. S. Yaye, L. Burglen, T. Dupre, I. Chantret, Afenjar, Alexandra, Chantret, Isabelle, Dupré, Thierry, Sadou Yayé, Hassane, Feillet, François, Le Bizec, Christiane, F. Feillet, Vuillaumier-Barrot, Sandrine, Moore, Stuart, E. H., Burglen, Lydie, S. E. H. Moore, P. de Lonlay, C. Altuzarra, S. Vuillaumier-Barrot, Seta, Nathalie   +28 more
core   +1 more source

DataSheet6_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.docx

, 2021
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis.
Kshitij Mankad (6749432), Preeya Rehsi (11774657), Nazreen Kamarus Jaman (11774654), Ulrike Löbel (3325251), Stephanie Grunewald (1460986), Robert H. Henderson (11774660)   +5 more
core   +1 more source

Radical-induced purine lesion formation is dependent on DNA helical topology

, 2016
Herein we report the quantification of purine lesions arising from gamma-radiation sourced hydroxyl radicals (HO(•)) on tertiary dsDNA helical forms of supercoiled (SC), open circular (OC) and linear (L) conformation, along with single-stranded folded ...
Chatgilialoglu, Chryssostomos, Krokidis, Marios, Molphy, Zara, Terzidis, Michael, Kellett, Andrew, Prisecaru, Andreea, Dumont, Elise, Terzidis, Michael A, RANDAZZO, ANTONIO, Krokidis, Marios G, Barron, Niall   +10 more
core   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

, 2020
BACKGROUND: Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2-CDG.
Enns, Gregory M., Hossein Moravej, Peter Witters, Mercimek-Andrews, Saadet, Ruqaiah Altassan, Shanti Balasubramaniam, Pascale De Lonlay, Jaeken, Jaak, Coman, D, Altassan, Ruqaiah, Enns, GM, Morava, E, Gregory M. Enns, Witters, Peter, Witters, P, Mercimek-Andrews, S, De Lonlay, Pascale, Balasubramaniam, S, Coman, David, Moravej, Hossein, Ellaway, Carolyn, Jaak Jaeken, David Coman, Eva Morava, Moravej, H, Altassan, R, Morava, Eva, Saadet Mercimek‐Andrews, Balasubramaniam, Shanti, Carolyn Ellaway, Jaeken, J, De Lonlay, P, Ellaway, C   +32 more
core   +1 more source

DataSheet5_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.pdf

, 2021
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis.
Kshitij Mankad (6749432), Preeya Rehsi (11774657), Nazreen Kamarus Jaman (11774654), Ulrike Löbel (3325251), Stephanie Grunewald (1460986), Robert H. Henderson (11774660)   +5 more
core   +1 more source

DataSheet2_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.pdf

, 2021
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis.
Kshitij Mankad (6749432), Preeya Rehsi (11774657), Nazreen Kamarus Jaman (11774654), Ulrike Löbel (3325251), Stephanie Grunewald (1460986), Robert H. Henderson (11774660)   +5 more
core   +1 more source

DataSheet3_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.pdf

, 2021
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis.
Kshitij Mankad (6749432), Preeya Rehsi (11774657), Nazreen Kamarus Jaman (11774654), Ulrike Löbel (3325251), Stephanie Grunewald (1460986), Robert H. Henderson (11774660)   +5 more
core   +1 more source