Results 41 to 50 of about 3,636 (221)

Differential Effects of D-Galactose Supplementation on Golgi Glycosylation Defects in TMEM165 Deficiency

Frontiers in Cell and Developmental Biology, 2022
Glycosylation is a ubiquitous and universal cellular process in all domains of life. In eukaryotes, many glycosylation pathways occur simultaneously onto proteins and lipids for generating a complex diversity of glycan structures.
Zoé Durin, Marine Houdou, Willy Morelle, Lydia Barré, Aurore Layotte, Dominique Legrand, Mohamed Ouzzine, François Foulquier   +7 more
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ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

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
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Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number
Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp   +9 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
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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

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
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Bridging the Gap between Glycosylation and Vesicle Traffic [PDF]

, 2016
Glycosylation is recognized as a vitally important posttranslational modification. The structure of glycans that decorate proteins and lipids is largely dictated by biosynthetic reactions occurring in the Golgi apparatus.
Abdul Rahman, Axelsson, Baas, Baker, Banfield, Bentley, Carr, Cheung, Cottam, Cottam, Dejgaard, Demircioglu, Drin, Eckert, Faid, Foulquier, Fridmann-Sirkis, Fukuda, Gawlitzek, Gilchrist, Gillingham, Grasa, Ha, Hassinen, Hennet, Hong, Hutagalung, Huybrechts, Ioffe, Jarvela, Joshi, Kelly, Kingsley, Kodera, Koreishi, Kornak, Kornfeld, Kosodo, Kranz, Kudlyk, Laufman, Laufman, Laufman, Lees, Lobingier, Lübbehusen, Maeda, Malsam, McDonald, McNew, Miller, Miller, Miserey-Lenkei, Misura, Nairn, Oka, Ong, Orci, Paesold-Burda, Papanikou, Park, Patterson, Peanne, Peng, Petrosyan, Petrosyan, Pfeffer, Pokrovskaya, Puthenveedu, Rabouille, Reynders, Rivinoja, Rymen, Rymen, Sato, Schmitz, Schnorrer, Setty, Sharpe, Shestakova, Shi, Sinka, Smits, Sohda, Sohda, Stanley, Starr, Steet, Struwe, Suvorova, Togneri, Tu, Uemura, Ungar, van Galen, Willett, Willett, Witkos, Wong, Wu, Xiang, Xu, Yamaguchi, Yamane, Ye, Yu   +105 more
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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

Stem Cell Research, 2023
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem ...
Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone   +12 more
doaj   +1 more source

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