Publications by authors named "H Freeze"
encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.
View Article and Find Full Text PDFALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG.
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- * The most common symptoms of CDG manifest in the neurological, dysmorphic, skeletal, and ocular systems, affecting up to 81% of patients, while digestive and cardiovascular issues are also noted but less frequently.
- * The study includes essential laboratory investigations for each CDG type and aims to provide useful information for healthcare providers treating patients with these metabolic disorders.
ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes the first step of endoplasmic reticulum (ER) luminal glycan extension by adding mannose from Dol-P-Man to Dol-PP-ManGlcNAc (Man5) forming Dol-PP-Man6. Such glycan extension is the first and fastest cellular response to ER stress, which is deficient in ALG3-CDG.
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- Diagnosis of PMM2-CDG, a common congenital disorder, traditionally involves carbohydrate-deficient transferrin testing and genetic analysis, but current tests can yield false negatives and might normalize as patients age.
- In this study, researchers used advanced mass spectrometry to analyze serum samples from 72 patients, uncovering specific changes in N-glycoproteins that could indicate the disorder more accurately than current testing methods.
- A notable finding was the presence of a unique glycopeptide from complement C4 in patients that had normal CDT results, suggesting it could serve as a more sensitive and reliable biomarker for diagnosing and monitoring PMM2-CDG.