Results 31 to 40 of about 2,105 (164)

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

JIMD Reports, 2020
Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava   +4 more
doaj   +1 more source

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

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

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

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

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

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

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB

Molecular Biomedicine, 2021
The congenital disorders of glycosylation (CDG) are a family of metabolic diseases in which glycosylation of proteins or lipids is deficient. GDP-mannose pyrophosphorylase B (GMPPB) mutations lead to CDG, characterized by neurological and muscular ...
Zhe Liu, Yan Wang, Fan Yang, Qin Yang, Xianming Mo, Ezra Burstein, Da Jia, Xiao-tang Cai, Yingfeng Tu   +8 more
doaj   +1 more source

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Scientific Reports, 2023
Congenital disorders of glycosylation (CDG) are rare genetic disorders with a spectrum of clinical manifestations caused by abnormal N-glycosylation of secreted and cell surface proteins.
Sjors M. Kas, Piyushkumar A. Mundra, Duncan L. Smith, Richard Marais   +3 more
doaj   +1 more source