[HTML][HTML] Glycosylation in health and disease

C Reily, TJ Stewart, MB Renfrow, J Novak - Nature Reviews Nephrology, 2019 - nature.com
The glycome describes the complete repertoire of glycoconjugates composed of
carbohydrate chains, or glycans, that are covalently linked to lipid or protein molecules …

[HTML][HTML] Glycosylation and behavioral symptoms in neurological disorders

P Pradeep, H Kang, B Lee - Translational Psychiatry, 2023 - nature.com
Glycosylation, the addition of glycans or carbohydrates to proteins, lipids, or other glycans, is
a complex post-translational modification that plays a crucial role in cellular function. It is …

[HTML][HTML] Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

T Bonduelle, T Hartlieb, S Baldassari, NS Sim… - Acta neuropathologica …, 2021 - Springer
Focal malformations of cortical development (MCD) are linked to somatic brain mutations
occurring during neurodevelopment. Mild malformation of cortical development with …

Perspectives on glycosylation and its congenital disorders

BG Ng, HH Freeze - Trends in Genetics, 2018 - cell.com
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …

[HTML][HTML] Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look

F Conte, N van Buuringen, NC Voermans… - Biochimica et Biophysica …, 2021 - Elsevier
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

[HTML][HTML] Congenital disorders of glycosylation from a neurological perspective

J Paprocka, A Jezela-Stanek, A Tylki-Szymańska… - Brain Sciences, 2021 - mdpi.com
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …

[HTML][HTML] Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

J Verheijen, S Tahata, T Kozicz, P Witters, E Morava - Genetics in Medicine, 2020 - Elsevier
Congenital disorders of glycosylation (CDG) are a group of clinically and genetically
heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG …

[HTML][HTML] Artificial intelligence (AI) in rare diseases: is the future brighter?

S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira… - Genes, 2019 - mdpi.com
The amount of data collected and managed in (bio) medicine is ever-increasing. Thus, there
is a need to rapidly and efficiently collect, analyze, and characterize all this information …

N‐glycome signatures in human plasma: associations with physiology and major diseases

V Dotz, M Wuhrer - FEBS letters, 2019 - Wiley Online Library
N‐glycome analysis in total plasma or serum yields information about the levels and
glycosylation patterns of major plasma glycoproteins, including immunoglobulins, acute …

[HTML][HTML] Congenital disorders of glycosylation: what clinicians need to know?

P Lipiński, A Tylki-Szymańska - Frontiers in pediatrics, 2021 - frontiersin.org
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …