Results 101 to 110 of about 3,750 (209)

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Molecular Genetics and Metabolism Reports
Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms ...
Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen   +6 more
doaj   +1 more source

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

Disease Models & Mechanisms, 2016
Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins.
William M. Parkinson, Michelle Dookwah, Mary Lynn Dear, Cheryl L. Gatto, Kazuhiro Aoki, Michael Tiemeyer, Kendal Broadie   +6 more
doaj   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +1 more source

Galactose Epimerase Deficiency: Expanding the Phenotype [PDF]

, 2017
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency ...
A Alano, DJ Lefeber, IB Sardharwalla, J Charlwood, J Wasilenko, JB Holton, JB Holton, JH Walter, KK Openo, L Sturiale, M Sarkar, MJ Henderson, R Gitzelmann, SS Sparrow, TM Wohlers   +14 more
core   +1 more source

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

JCI Insight, 2021
The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potentially
Elsenoor J. Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, Zhi-Jie Xia, Tammie Dang, Mark A. Lehrman, Peggi Angel, Richard R. Drake, Hudson H. Freeze, Richard Steet, Heather Flanagan-Steet   +10 more
doaj   +1 more source

Guiding signs in metabolic disease diagnosis [PDF]

, 2013
Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada.
Cabeza Martín, B., Hernangómez Vázquez, S., Jiménez Ortega, A. I., Martínez de Azagra, A., Martínez Zazo, A. B., Pedrón, Consuelo, Sirvent Cerdá, S. I.   +6 more
core   +2 more sources

A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

Disease Models & Mechanisms, 2013
SUMMARY Individuals with congenital disorders of glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals,
Jaime Chu, Alexander Mir, Ningguo Gao, Sabrina Rosa, Christopher Monson, Vandana Sharma, Richard Steet, Hudson H. Freeze, Mark A. Lehrman, Kirsten C. Sadler   +9 more
doaj   +1 more source

Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation [PDF]

, 2018
Abtract: N-linked glycosylation is one of the most abundant modifications of proteins in eukaryotic organisms. In the central reaction of the pathway, oligosaccharyltransferase (OST), a multimeric complex located at the membrane of the endoplasmic ...
Aebi, Markus, Glockshuber, Rudi, Mohorko, Elisabeth   +2 more
core  

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core   +1 more source