Results 31 to 40 of about 3,013 (227)

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
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Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N, Barnerias, C, Boddaert, N, de Lonlay, P, Eisermann, M, Kaminska, A, Nabbout, R, Pereira, AG   +7 more
core   +1 more source

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

BMC Medical Genetics, 2018
Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked ...
Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont   +7 more
doaj   +1 more source

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

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

Congenital disorders of glycosylation (CDG): state of the art in 2022

Orphanet Journal of Rare Diseases, 2023
AbstractCongenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field.
Francisco, Rita, Brasil, Sandra, Poejo, Joana, Jaeken, Jaak, Pascoal, Carlota, Videira, Paula A., Ferreira, Vanessa dos Reis   +6 more
openaire   +4 more sources

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

Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]

, 2015
Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Artuch, R., Boix, Cristina, Briones, Paz, Carratalá, Francisco, Cuadras, Daniel, De Diego, Victor, Felipe-Rucián, Ana, Fons, Carmen, García-Cazorla, Angels, Girós, Marisa, Gort, Laura, Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica, Jaeken, Jaak, Macaya Ruiz, Alfons, Muchart, Jordi, O'Callaghan, M. Mar, Poo, M. Pilar, Pérez, Belén, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Robles, Bernabé, Serrano, Mercedes, Universitat Autònoma de Barcelona, Velázquez-Fragua, Ramón   +23 more
core   +3 more sources

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update [PDF]

Genetics in Medicine, 2020
Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG types are ultrarare disorders. CDG types affecting N-glycosylation are the most common type of CDG with emerging therapeutic possibilities.
Jan Verheijen, Shawn Tahata, Tamas Kozicz, Peter Witters, Eva Morava   +4 more
openaire   +3 more sources

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy [PDF]

, 2017
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a ...
Ali, M, Arno, G, Black, GC, Clayton-Smith, J, Grunewald, S, Hardcastle, AJ, Hull, S, Inglehearn, CF, Khan, KN, McKibbin, M, Michaelides, M, Moore, AT, Morarji, J, Pontikos, N, Poulter, JA, Rueda Martin, A, Smith, KR, Taylor, RL, Toomes, C, UK Inherited Retinal Disease Consortium and the 100,000 Genomes,, Webster, AR   +20 more
core   +2 more sources