Results 121 to 130 of about 933 (165)

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS. [PDF]

Mol Genet Metab
Muffels IJJ, Budhraja R, Shah R, Radenkovic S, Morava E, Kozicz T.   +5 more
europepmc   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source

Anything you can do, glycans do better: deglycosylation and noncanonical ubiquitination vie to rule the proteasome. [PDF]

Trends Biochem Sci
Lehrbach N.
europepmc   +1 more source

NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome. [PDF]

Front Mol Neurosci
Khodadadi H, Łuczyńska K, Winiarczyk D, Leszczyński P, Taniguchi H.   +4 more
europepmc   +1 more source

The role of lactylation in plasma cells and its impact on rheumatoid arthritis pathogenesis: insights from single-cell RNA sequencing and machine learning. [PDF]

Front Immunol
Fu W, Wang T, Lu Y, Shi T, Yang Q.
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
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

Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans. [PDF]

PLoS Biol
Yanagi KS, Jochim B, Kunjo SO, Breen P, Ruvkun G, Lehrbach N.   +5 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