Results 121 to 130 of about 166,041,693 (206)

Identifying Congenital Disorders of Glycosylation

, 2021
Congenital Disorders of Glycosylation (CDG) constitute a diverse group of errors involved with protein glycosylation, a post-transcriptional modification that is essential for life.
Bowman, William, Hamby, Tyler, Gorrepati, Krishna   +2 more
core  

Congenital disorders of glycosylation (CDG): state of the art in 2022. [PDF]

Orphanet J Rare Dis, 2023
Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V.   +6 more
europepmc   +1 more source

[Congenital disorders of glycosylation].

Postepy higieny i medycyny doswiadczalnej, 2004
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites.
openaire   +1 more source

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +1 more source

Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation [PDF]

, 2013
Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions.
Chrostek, Lech, Gruszewska, Ewa, Cylwik, Bogdan, Lipartowska, Karina   +3 more
core  

Identifying Congenital Disorders of Glycosylation

, 2020
Congenital disorders of glycosylation (CDG) constitute a diverse group of errors involved with protein glycosylation, a post-transcriptional modification that is essential for life.
Gorrepati, Krishna
core  

Nutrition interventions in congenital disorders of glycosylation. [PDF]

Trends Mol Med, 2022
Boyer SW, Johnsen C, Morava E.
europepmc   +1 more source

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation. [PDF]

Sci Rep, 2023
Kas SM, Mundra PA, Smith DL, Marais R.
europepmc   +1 more source

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +10 more
europepmc   +1 more source

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation. [PDF]

BMC Res Notes, 2023
Sabry S, Eissa NR, Zaki MS.
europepmc   +1 more source