Results 121 to 130 of about 811 (146)

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology [PDF]

Blau, Nenad, Ferreira, Carlos R, Freeze, Hudson H, Himmelreich, Nastassja, Ng, Bobby G   +4 more
core   +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

2024 SOARS Conference Program [PDF]

UNF Office of Undergraduate Research
core  

Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine. [PDF]

Stem Cell Res Ther
Lee CJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

The role of the protease Ddi2 in brown adipose tissue thermogenesis and ferroptosis [PDF]

Ofoghi, Anahita
core  

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG. [PDF]

Heliyon
Yuan S, Chen Y, Zou L, Lu X, Liu R, Zhang S, Zhang Y, Chen C, Cheng D, Chen L, Sun G.   +10 more
europepmc   +1 more source

Decision letter: A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

, 2020
openaire   +1 more source

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

KCTD1 regulation of Adenylyl cyclase type 5 adjusts striatal cAMP signaling. [PDF]

Proc Natl Acad Sci U S A
Liao Y, Muntean BS.
europepmc   +1 more source