Results 41 to 50 of about 3,750 (209)

PMM2‐CDG and nephrotic syndrome: A case report

Clinical Case Reports, 2022
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can ...
Giuseppe Banderali, Elisabetta Salvatici, Valentina Rovelli, Jaak Jaeken   +3 more
doaj   +1 more source

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

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation

Cells, 2021
The Golgi is the central organelle of the secretory pathway and it houses the majority of the glycosylation machinery, which includes glycosylation enzymes and sugar transporters. Correct compartmentalization of the glycosylation machinery is achieved by
Zinia D’Souza, Farhana Taher Sumya, Amrita Khakurel, Vladimir Lupashin   +3 more
doaj   +1 more source

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

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
doaj   +1 more source

Macular hypoplasia in congenital disorder of glycosylation type 1a [PDF]

, 2012
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type ...
Siriwardana, Pradeep, Taranath, Deepa A, Wang, Bob Z   +2 more
core   +3 more sources

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

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation [PDF]

, 2013
BACKGROUND: Congenital disorders of glycosylation (CDGs) are inherited diseases caused by glycosylation defects. Incorrectly glycosylated proteins induce protein misfolding and endoplasmic reticulum (ER) stress.
Huaxi Xu, Hudson H Freeze, Kun Zhou, Liangwu Sun, Yingjun Zhao, Yun-wu Zhang   +5 more
core   +1 more source

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

N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry [PDF]

, 2007
Congenital disorders of glycosylation (CDGs) are a family of N-linked glycosylation defects associated with severe clinical manifestations. In CDG type-I, deficiency of lipid-linked oligosaccharide assembly leads to the underoccupancy of N-glycosylation ...
Hennet, T, Hülsmeier, A J, Paesold-Burda, P   +2 more
core   +1 more source