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Updated: Aug 9, 2026

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy
Published on: August 3, 2021
Metabolic mimics: the disorders of N-linked glycosylation
1Division of Pediatric Neurology, Columbia University Medical Center, Harkness Pavilion, HP-540, 180 Fort Washington Avenue, New York, NY 10032, USA.
Abstract:
N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.
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