Results 31 to 40 of about 9,667 (152)

N- and O-glycan analysis for the detection of glycosylation disorders

Egyptian Journal of Medical Human Genetics, 2021
Background Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids.
Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen   +5 more
doaj   +1 more source

Epileptic spasms in congenital disorders of glycosylation [PDF]

Epileptic Disorders, 2017
AbstractAim. 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 peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is
Pereira, AG, Bahi-Buisson, N, Barnerias, C, Boddaert, N, Nabbout, R, de Lonlay, P, Kaminska, A, Eisermann, M   +7 more
openaire   +3 more sources

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Frontiers in Genetics, 2021
Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000.
Sander Pajusalu, Sander Pajusalu, Mari-Anne Vals, Mari-Anne Vals, Laura Mihkla, Laura Mihkla, Ustina Šamarina, Tiina Kahre, Tiina Kahre, Katrin Õunap, Katrin Õunap   +10 more
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Congenital protein hypoglycosylation diseases

The Application of Clinical Genetics, 2012
Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: Glycosylation is an ...
Sparks SE
doaj  

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis

Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we present a 3-year-
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Veronika Krajčovičová, Anna Šalingová, Katarína Skalická, Miriam Kolníková, Peter Baráth, Marek Nemčovič   +8 more
doaj   +1 more source

CRISPR/Cas9-mediated mutation of asparagine-linked glycosylation 13 transcript variant 1 causes epilepsy in mice

Journal of Bio-X Research, 2020
. Objective:. The asparagine-linked glycosylation 13 homolog (Alg13) has been identified as causative for congenital disorders of glycosylation type I with epilepsy.
Baoli Yu, Geng Zhu, Shangang Li, Xuejin Chen, Qian Fang, Yan Zhang, Yixun Liu, Shengtian Li, Ji Wu   +8 more
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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
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Putative role of TMEM165 in congenital cardiomyopathies

Frontiers in Molecular Neuroscience
Within the significant worldwide causes of mortality and morbidity are congenital heart diseases. Congenital cardiomyopathies include conditions in which early diagnosis and care can improve survival and health.
Paula P. Gonçalves
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Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.

Frontiers in Neuroscience, 2015
The Conserved Oligomeric Golgi (COG) complex is an evolutionarily conserved hetero-octameric protein complex that has been proposed to organize vesicle tethering at the Golgi apparatus.
Leslie K Climer, Maxim eDobretsov, Vladimir eLupashin   +2 more
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The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation

Cells, 2020
Glycosylation is the most common post-translational modification of proteins; it mediates their correct folding and stability, as well as their transport through the secretory transport.
Anna Frappaolo, Angela Karimpour-Ghahnavieh, Stefano Sechi, Maria Grazia Giansanti   +3 more
doaj   +1 more source