Reduction of Charged Glycoconjugates in Tango2 KO Mouse Brain
Proteoglycan Research, Volume 4, Issue 1, January 2026.ABSTRACT The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2‐deficiency disorder (TDD). TDD is a multi‐systemic disorder that can affect different organs including the brain, heart, and muscles, presenting as recurrent metabolic crises, muscle weakness, and neurological ...
Edward S. X. Moh +3 more
wiley +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]
, 2014 Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core +1 more source
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) [PDF]
, 2015 Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and ...
FIUMARA, Agata +4 more
openaire +3 more sources
The role of Alg13 N-acetylglucosaminyl transferase in the expression of pathogenic features of Candida albicans. [PDF]
, 2017 Background: The pathogenic potential of Candida albicans depends on adhesion to the host cells mediated by highly glycosylated adhesins, hyphae formation and growth of biofilm. These factors require effective N-glycosylation of proteins.
Janik, Anna +5 more
core +1 more source
PLoS ONE, 2010 Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins.
Yuanquan Song +8 more
doaj +1 more source
Glycan Engineering for Cell and Developmental Biology [PDF]
, 2016 Cell-surface glycans are a diverse class of macromolecules that participate in many key biological processes, including cell-cell communication, development, and disease progression.
Griffin, Matthew E. +1 more
core +1 more source
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy [PDF]
, 2017 published_or_final_versio
Fung, CW, Kwong, KY, Wong, CNV
core +1 more source
Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy [PDF]
, 2016 The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Booler, H +3 more
core +1 more source
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation [PDF]
, 2017 The conserved oligomeric Golgi (COG) complex is a tethering factor composed of eight subunits that is involved in the retrograde transport of intra-Golgi components. Deficient biosynthesis of COG subunits leads to alterations of protein trafficking along
Baumgartner, Matthias +7 more
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