Results 111 to 120 of about 2,044 (163)

Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits. [PDF]

eNeuro
Authier F, Esperon-Abril I, Coquelin KS, Skoven CS, Eskildsen SF, Ondruskova N, Ferenbach AT, Thomsen JS, Hansen B, van Aalten DMF.   +9 more
europepmc   +1 more source

Glycosylation in premature ovarian insufficiency: from genetic etiology to precision diagnostics. [PDF]

J Ovarian Res
Feng C, Qi N, Feng R, Liu Y, Yuan X.
europepmc   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6-CDG. [PDF]

Hum Mutat
Pakanová Z, Krchňák M, Nemčovič M, Kodríková R, Ondrušková N, Štufková H, Giertlová M, Okáľová K, Stretavská P, Martineková S, Mezenská RZ, Urminská M, Škopková M, Andrésová A, Lysinová M, Belujská L, Šalingová A, Beke G, Račková L, Honzík T, Hansíková H, Baráth P.   +21 more
europepmc   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes. [PDF]

J Transl Med
Radenkovic S, Preston G, Budhraja R, Muffels I, Ligezka A, Staff NP, Hrstka R, Balakrishnan B, Shah R, Verberkmoes S, Shammas I, Bosnyak I, Stiers KM, Lai K, Beamer LJ, Pandey A, Morava E, Kozicz T.   +17 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

The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. [PDF]

Glycobiology
Noel M, Zürcher YM, Tulin EKC, Cummings RD.   +3 more
europepmc   +1 more source

A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG

, 2015
Küçükçongar, A., Tümer, L., Ezgü, F. Süheyl, Kasapkara, Ç. Seher, Jaeken, Jaak, Matthijs, Gert, Rymen, Daisy, Dalgiç, B., Bıdecı, A., Hasanoğlu, A.   +9 more
openaire   +2 more sources

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights. [PDF]

Int J Mol Sci
Risso B, Riva A, Volpedo G, Conti V, di San Carlo CT, Zara F, Striano P, Falace A.   +7 more
europepmc   +1 more source