Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]
Majewska E +3 more
europepmc +1 more source
Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study
Brock Futrell +8 more
openaire +1 more source
Structural characterization of zebrafish Ngly2, an ovary-enriched acid PNGase required for egg-free glycan production. [PDF]
Honda A +11 more
europepmc +1 more source
An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe. [PDF]
Hirayama H, Suzuki T.
europepmc +1 more source
Anything you can do, glycans do better: deglycosylation and noncanonical ubiquitination vie to rule the proteasome. [PDF]
Lehrbach N.
europepmc +1 more source
NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome. [PDF]
Khodadadi H +4 more
europepmc +1 more source
Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]
De Preter A +3 more
europepmc +1 more source
(ARISE) Achievements in Research, Inquiry and Scholarship Exhibition 2024 [PDF]
Office of Undergraduate Research
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