Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involve...

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Main Authors: Akula, S.K (Author), Attié-Bitach, T. (Author), de Brouwer, A.P.M (Author), Duvet, S. (Author), Fortuna, A.M (Author), Foulquier, F. (Author), Gheldof, A. (Author), Jansen, A.C (Author), Jorge, P. (Author), Lai, A. (Author), Loget, P. (Author), Maia, N. (Author), Nassogne, M.-C (Author), O'Kane, K. (Author), Potelle, S. (Author), Proisy, M. (Author), Quelin, C. (Author), Schulz, C. (Author), Sermon, K. (Author), Soares, A.R (Author), Stouffs, K. (Author), Van Schaftingen, E. (Author), Walsh, C.A (Author), Wiame, E. (Author), Yildirim, H. (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
adolescent
Adolescent
allele
Alleles
alpha mannosidase
alpha-Mannosidase
brain cyst
brain stem
Brain Stem
case report
Cell Line, Tumor
Central Nervous System Cysts
Cerebellar Vermis
cerebellum vermis
child
Child
Child, Preschool
congenital disorder of deglycosylation
congenital disorder of glycosylation
Congenital Disorders of Glycosylation
female
Female
fetus
Fetus
free oligosaccharides
genetics
glycopeptidase
glycosylation
Glycosylation
hamartoma
Hamartoma
human
Humans
hypothalamus
Hypothalamus
Intellectual Disability
intellectual impairment
leukocyte
Leukocytes
male
Male
MAN2C1
MAN2C1 protein, human
mannose
Mannose
metabolism
microgyria
neurodevelopmental disorder
oligosaccharide
Oligosaccharides
pathology
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Polymicrogyria
preschool child
tongue
Tongue
tumor cell line
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