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Gangliosides in the brain: physiology, pathophysiology and therapeutic applications
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 …
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 …
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
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 …
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 …
pathways and their related disorders, and highlights some of the neurological aspects and …
Sialylation and galectin-3 in microglia-mediated neuroinflammation and neurodegeneration
Microglia are brain macrophages that mediate neuroinflammation and contribute to and
protect against neurodegeneration. The terminal sugar residue of all glycoproteins and …
protect against neurodegeneration. The terminal sugar residue of all glycoproteins and …
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
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 …
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
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 …
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
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 …
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 …
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
Attention-deficit/hyperactivity disorder (ADHD) is a common and debilitating
neurodevelopmental disorder influenced by both genetic and environmental factors …
neurodevelopmental disorder influenced by both genetic and environmental factors …