Results 101 to 110 of about 167,517,803 (126)

MAN2A2-related glycosylation defects in autism and cognitive delay. [PDF]

Sci Rep
Treccarichi S, Vinci M, Cirnigliaro L, Messina A, Palmigiano A, Pettinato F, Musumeci A, Chiavetta V, Saccone S, Sturiale L, Calì F, Barone R.   +11 more
europepmc   +1 more source

Public cohort analysis identifies thyroglobulin variants as hypothyroidism risk factors. [PDF]

J Biol Chem
Hermanson JN, Hudson AD, Plate L.
europepmc   +1 more source

Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity. [PDF]

J Biol Chem
Hirayama H, Tachida Y, Fujinawa R, Matsuda Y, Murase T, Nishiuchi Y, Suzuki T.   +6 more
europepmc   +1 more source

Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity. [PDF]

PLoS Genet
Tu'ifua TK, Chow CY.
europepmc   +1 more source

The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. [PDF]

Glycobiology
Noel M, Zürcher YM, Tulin EKC, Cummings RD.   +3 more
europepmc   +1 more source

Identification and Validation of Mannose Metabolism-Related Biomarkers in COPD Through Integrated Bioinformatics and Machine Learning Analysis: A Pilot Study. [PDF]

Int J Chron Obstruct Pulmon Dis
Li X, Wang J, Hu Z, Chen S, Liu C.
europepmc   +1 more source

Aberrant glycosylation in schizophrenia: insights into pathophysiological mechanisms and therapeutic potentials. [PDF]

Front Pharmacol
Feng Y, Sun L, Dang X, Liu D, Liao Z, Yao J, Zhang Y, Deng Z, Li J, Zhao M, Liu F.   +10 more
europepmc   +1 more source

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG. [PDF]

iScience
Wu CL, Wiggins K, Dukes-Rimsky L, Garapati K, Pandey A, Steet R, Flanagan-Steet H.   +6 more
europepmc   +1 more source

Defining albumin as a glycoprotein with multiple N-linked glycosylation sites. [PDF]

J Transl Med
Garapati K, Jain A, Madden BJ, Mun DG, Sharma J, Budhraja R, Pandey A.   +6 more
europepmc   +1 more source