Results 41 to 50 of about 3,112 (224)

Case report: The art of anesthesiology—Approaching a minor procedure in a child with MPI-CDG

Frontiers in Pharmacology, 2022
Background: Protein glycosylation plays an important role in post-translational modification, which defines a broad spectrum of protein functions.
En-Che Chang, Yu-Hsuan Chang, Yu-Shiun Tsai, Yi-Li Hung, Min-Jia Li, Chih-Shung Wong, Chih-Shung Wong, Chih-Shung Wong   +7 more
doaj   +1 more source

Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

Frontiers in Genetics, 2022
Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic features
Hanna Lausmann, Martin Zacharias, Teresa M. Neuhann, Melanie K. Locher, Karl F. Schettler   +4 more
doaj   +1 more source

Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins [PDF]

, 2012
Asparagine-linked glycosylation is a common post translational modification of proteins in eukaryotes. Mutations in the human ALG3 gene cause changed levels and altered glycan structures on mature glycoproteins and are the cause of a severe congenital ...
Aebi M., Apweiler R., Benjamin L. Schulz, Bova G. S., Breidenbach M. A., Burda P., Chen W., Garshasbi M., Haeuptle M. A., Helenius A., Henquet M., Henquet M., Honma K., Huffaker T. C., Hülsmeier A. J., Izquiedro L., Jamaluddin M. F. B., Janik M. E., Kasturi L., Kelleher D. J., Krokhin O. V., Lizak C., Mohorko E., Molinari F., Muhammad Fairuz Jamaluddin, Nasab F., Palmisano G., Pils D., Robinson N. E., Runge K. W., Sato S., Schulz B. L., Schulz B. L., Schulz B. L., Sun L., Ulla-Maja Bailey, Whitley P., Yin Q. Y., Zhang H.   +38 more
core   +1 more source

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)

International Journal of Molecular Sciences, 2022
Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of known drugs for novel medical purposes, known as drug repositioning, is growing for both common and rare ...
Sandra Brasil 1, 2, 3, Mariateresa Allocca 3, 4, 5, Salvador C. M. Magrinho 1, 2, 3, 6, Inês Santos 3, 7, Madalena Raposo 3, 7, Rita Francisco 1, 2, 3, Carlota Pascoal 1, 2, 3, Tiago Martins 3, 7, Paula A. Videira 1, 2, 3, Florbela Pereira 3, 6, Giuseppina Andreotti 4, Jaak Jaeken 3, 8, Kristin A. Kantautas 9, Ethan O. Perlstein 10 and Vanessa dos Reis Ferreira 1, 2, 3   +33 more
openaire   +6 more sources

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
core   +4 more sources

Establishment of a human induced pluripotent stem cell line（SDQLCHi059-A）from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene

Stem Cell Research
Congenital disorder of glycosylation (CDG) is inherited metabolic disease caused by defects in the genes important for the process of protein and lipid glycosylation.
Bin Wang, Lu Yang, Min Gao, Haiyan Zhang, Yi Liu, Zhongtao Gai   +5 more
doaj   +1 more source

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I [PDF]

, 2011
Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of ...
Mailys Guillard, Yoshinao Wada, Hana Hansikova, Isao Yuasa, Katerina Vesela, Nina Ondruskova, Machiko Kadoya, Alice Janssen, Lambertus P. W. J. Van den Heuvel, Eva Morava, Jiri Zeman, Ron A. Wevers, Dirk J. Lefeber   +12 more
core   +2 more sources

Differential effects of lobe A and lobe B of the conserved oligomeric golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]

, 2010
Erworben im Rahmen der Schweizer Nationallizenzen (http://www.nationallizenzen.ch)Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine, Foulquier, Francois, Legrand, Dominique, Matthijs, Gert, Mir, Anne-Marie, Peanne, Romain, Rohrer, Jack   +6 more
core   +2 more sources

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia) [PDF]

Archives of Disease in Childhood, 2002
To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) in order to identify critical period(s) and possible cause(s) of growth failure.Longitudinal measurements of weight, length/height, and head circumference from birth to 10 years of age in 25 CDG-Ia patients with the R141H/F119L PMM2 ...
S, Kjaergaard, J, Müller, F, Skovby
openaire   +2 more sources

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Journal of Rare Diseases, 2022
Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation.
Ana Piedade, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil, Carlos R. Ferreira, Tatiana Rijoff, Carlota Pascoal, Alexandre Gil, Ana Beatriz Lourenço, Marta Abreu, Mafalda Gomes, Paula A. Videira, Vanessa dos Reis Ferreira   +13 more
openaire   +1 more source