Results 151 to 160 of about 6,717 (197)

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. [PDF]

Front Immunol
Pascoal C, Granjo P, Kodríková R, Falcão M, Santos AC, Teodoro I, Pakanová Z, Nemčovič M, Mucha J, Castro-Caldas M, Grosso AR, Dos Reis Ferreira V, Videira PA.   +12 more
europepmc   +1 more source

Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability. [PDF]

Mol Cell Proteomics
Pravata VM, Jiang H, Ferenbach AT, Lamond A, van Aalten DMF.   +4 more
europepmc   +1 more source

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review. [PDF]

Orphanet J Rare Dis
Gandoy-Fieiras N, Quiroga MI, Sánchez L.   +2 more
europepmc   +1 more source

A cyclic di-GMP phosphodiesterase in the VSP-2 island of <i>Vibrio cholerae</i> is regulated by zinc and quorum sensing. [PDF]

mBio
Rangarajan AA, Ok K, Malleck MK, Ferrell MJ, O'Halloran TV, Waters CM.   +5 more
europepmc   +1 more source

<i>In vitro</i> cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient. [PDF]

Front Genet
Cubilla MA, Sclausero AC, Bisbal M, Asteggiano CG.   +3 more
europepmc   +1 more source

Antibody-conjugated mesenchymal stromal cell drug delivery system for the treatment of autoimmune diseases in mice. [PDF]

Nat Commun
Xie Q, Shen Y, Liang J, Fu C, Du X, Huang S, Song B, Chen L, Wang Y.   +8 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead. [PDF]

Biomedicines
Abu Bakar N, Hamzan NI.
europepmc   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +1 more source