Results 81 to 90 of about 167,517,803 (126)

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management. [PDF]

Front Endocrinol (Lausanne), 2022
Chen C, Sang Y.
europepmc   +1 more source

Architects of folding, editors of immunity: the strategic use of <i>N</i>-glycans in vaccine design. [PDF]

Front Immunol
Orioli S, Idrovo-Hidalgo T, Martinez Saucedo MLA, D'Alessio C.   +3 more
europepmc   +1 more source

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +1 more source

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

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

Tofacitinib Improves Motor Symptoms in Parkinsonism Associated with a Heterozygous NGLY1 Variant and Autoimmune Disease. [PDF]

Eur J Case Rep Intern Med
Reina-Llompart N, Serrano-López S, Torres-Iglesias G, Álvarez-Troncoso J.   +3 more
europepmc   +1 more source

Dynamic glycosylation remodeling in neurological disorders. [PDF]

Front Mol Neurosci
Xing D, Gong Y, Xia W, Tu H, Yuan L, Yin Y, Wang K.   +6 more
europepmc   +1 more source

TUSC3 serves as a rate-limiting gatekeeper of a glycan-mediated ER triage checkpoint for BMP4/Dpp. [PDF]

Cell Rep
Galeone A, Solazzo E, Lavezzari F, Han SY, Consonni G, My B, Rizzo R, Gigli G, Jafar-Nejad H, Vaccari T.   +9 more
europepmc   +1 more source

Expanding carrier screening: beyond the genes, to include underrepresented ancestries. [PDF]

NPJ Genom Med
Bylstra Y, Jian PC, Lin S, Goh J, Choi C, Teo JX, Lim S, Hodgson J, Menezes M, Weng R, Amor DJ, Lim WK, Jamuar SS.   +12 more
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source