Results 71 to 80 of about 582 (102)

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Budhraja R, Radenkovic S, Jain A, Muffels IJJ, Ismaili MHA, Kozicz T, Pandey A, Morava E.   +7 more
europepmc   +1 more source

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency. [PDF]

J Assist Reprod Genet, 2020
Peng T, Lv C, Tan H, Huang J, He H, Wang Y, Zeng M, Yi D, Li J, Deng H, Shi X, Xiao H.   +11 more
europepmc   +1 more source

Transposable Neomycin Phosphotransferases

, 1977
R. Jorgensen, J. Schloff, T.-S. R. Huang, M. Fiandt, J. Davies, D. Berg, P. Courvalin   +6 more
core   +1 more source

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders. [PDF]

BMC Med Genet, 2019
Zhang Z, Huang TL, Ma J, He WJ, Gu H.
europepmc   +1 more source

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. [PDF]

Cell Rep
Matheny-Rabun C, Mokashi SS, Radenkovic S, Wiggins K, Dukes-Rimsky L, Angel P, Ghesquiere B, Kozicz T, Steet R, Morava E, Flanagan-Steet H.   +10 more
europepmc   +1 more source

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +1 more source

Unsuccessful intravenous D-mannose treatment in PMM2-CDG. [PDF]

Orphanet J Rare Dis, 2019
Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U.   +8 more
europepmc   +1 more source

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses. [PDF]

Orphanet J Rare Dis
Oliveira T, Ferraz R, Azevedo L, Quelhas D, Carneiro J, Jaeken J, Sousa SF.   +6 more
europepmc   +1 more source

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. [PDF]

JCI Insight
Garapati K, Budhraja R, Saraswat M, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A.   +23 more
europepmc   +1 more source

phosphoric monoesters as stereochemical probes of phosphotransferases

, 1982
Stephen L. Buchwald, Jeremy R. Knowles, David E. Hansen, Annemarie Hassett   +3 more
core   +1 more source