Results 101 to 110 of about 1,211 (133)

An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe. [PDF]

Bio Protoc
Hirayama H, Suzuki T.
europepmc   +1 more source

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

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

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

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism. [PDF]

Sci Rep
Sabir MS, Jovanovic VM, Ryu S, Sen C, Ormanoglu P, Pollard L, Steet R, Gahl WA, Huizing M, Tristan CA, Platt FM, Malicdan MCV.   +11 more
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

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

SLC10A7 regulates O-GalNAc glycosylation and Ca²⁺ homeostasis in the secretory pathway: insights into SLC10A7-CDG. [PDF]

Cell Mol Life Sci
Durin Z, Layotte A, Morelle W, Houdou M, Folcher A, Legrand D, Lefeber D, Prevarskaya N, Von Blume J, Cormier-Daire V, Foulquier F.   +10 more
europepmc   +1 more source

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease. [PDF]

Mol Ther
Ibel A, Bhardwaj R, Yilmaz DE, Kong S, Wendlinger S, Cordero C, Papaioannou D, Papazian M, Schönauer R, Meng Q, Eckardt KU, Hassan F, Volpe I, Klämbt V, Halbritter J, Fedeles S, Krappitz M, Kaminski MM.   +17 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