Results 91 to 100 of about 167,517,803 (126)

Natural history of NGLY1 deficiency: motor function & clinical features. [PDF]

Hum Mol Genet
Morrison G, Dwight S, Landy H, Mueller WF, Ventola P, Deck R, Schweighardt B, Wilsey M, Lee KJ, Suter B.   +9 more
europepmc   +1 more source

Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency. [PDF]

Glycobiology
Hirayama H, Fujihira H, Suzuki T.
europepmc   +1 more source

Ubiquitin beyond the proteome: lipids, glycans, metabolites, nucleic acids, and an expanding molecular landscape. [PDF]

Biochem Soc Trans
Endo A, Yoshida Y.
europepmc   +1 more source

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

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

SARS-CoV-2 pseudoparticles preferentially infect ectoderm in human embryonic tissues. [PDF]

Front Cell Dev Biol
Song A, Talbot P.
europepmc   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source

Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats. [PDF]

Orphanet J Rare Dis
Zhu L, Dwight S, Mueller WF, Schweighardt B.   +3 more
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

Cross-talk between glycosylation pathways: Mechanistic insights and implications for human diseases. [PDF]

Mol Metab
Very N, El Yazidi-Belkoura I.
europepmc   +1 more source