Results 41 to 50 of about 3,013 (227)

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

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
core   +5 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

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation [PDF]

, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Bliss, E, Carreno, G, Clayton, PT, Grunewald, S, Heywood, WE, Mills, K, Mills, P, Muntoni, F, Sebire, NJ, Torelli, S, Worthington, VC, Yuzugulen, J   +11 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

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

MAN1B1 deficiency: an unexpected CDG-II. [PDF]

PLoS Genetics, 2013
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient ...
Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs   +17 more
doaj   +1 more source

ALG11-CDG syndrome: Expanding the phenotype. [PDF]

, 2019
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation.
Brown, Candida, Freeze, Hudson H, Gallant, Natalie M, Haanpää, Maria K, Kimonis, Virginia, Muller, Eric A, Ng, Bobby G, Singh, Kathryn E   +7 more
core   +2 more sources

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity.
Pedrayes, Andrea Janez, Rymen, Daisy, Ghesquiere, Bart, Witters, Peter   +3 more
openaire   +3 more sources