Gangliosides in the brain: physiology, pathophysiology and therapeutic applications

S Sipione, J Monyror, D Galleguillos… - Frontiers in …, 2020 - frontiersin.org
Gangliosides are glycosphingolipids highly abundant in the nervous system, and carry most
of the sialic acid residues in the brain. Gangliosides are enriched in cell membrane …

Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration

RL Schnaar, R Gerardy-Schahn… - Physiological …, 2014 - journals.physiology.org
Every cell in nature carries a rich surface coat of glycans, its glycocalyx, which constitutes
the cell's interface with its environment. In eukaryotes, the glycocalyx is composed of …

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

D Demontis, RK Walters, J Martin, M Mattheisen… - Nature …, 2019 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …

Neurological aspects of human glycosylation disorders

HH Freeze, EA Eklund, BG Ng… - Annual review of …, 2015 - annualreviews.org
This review presents principles of glycosylation, describes the relevant glycosylation
pathways and their related disorders, and highlights some of the neurological aspects and …

Sialylation and galectin-3 in microglia-mediated neuroinflammation and neurodegeneration

M Puigdellívol, DH Allendorf, GC Brown - Frontiers in cellular …, 2020 - frontiersin.org
Microglia are brain macrophages that mediate neuroinflammation and contribute to and
protect against neurodegeneration. The terminal sugar residue of all glycoproteins and …

GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy

JR Lemke, R Hendrickx, K Geider, B Laube… - Annals of …, 2014 - Wiley Online Library
Objective To identify novel epilepsy genes using a panel approach and describe the
functional consequences of mutations. Methods Using a panel approach, we screened 357 …

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

K Nakamura, H Kodera, T Akita, M Shiina… - The American Journal of …, 2013 - cell.com
Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of
signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome …

Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013

P Pavone, P Striano, R Falsaperla, L Pavone… - Brain and …, 2014 - Elsevier
The current spectrum of disorders associated to clinical spasms with onset in infancy is
wider than previously thought; accordingly, its terminology has changed. Nowadays, the …

[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 …

Epigenetics and ADHD: reflections on current knowledge, research priorities and translational potential

CAM Cecil, JT Nigg - Molecular diagnosis & therapy, 2022 - Springer
Attention-deficit/hyperactivity disorder (ADHD) is a common and debilitating
neurodevelopmental disorder influenced by both genetic and environmental factors …