Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis
Pamela Kell, Sonali Mishra, Precilla D'Souza, Cynthia J Tifft, Dennis J Dietzen, Laura Duque Lasio, Jennifer Powers Carson, Xinying Hong, Raphael Schiffmann, María Dolores Ledesma, Nahid Tayebi, Patricia I Dickson, Forbes D Porter, Daniel S Ory, Xuntian Jiang · 2026
Read Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis by Pamela Kell, Sonali Mishra, Precilla D'Souza, Cynthia J Tifft, Dennis J Dietzen, Laura Duque Lasio, Jennifer Powers Carson, Xinying Hong, Raphael Schiffmann, María Dolores Ledesma, Nahid Tayebi, Patricia I Dickson, Forbes D Porter, Daniel S Ory, Xuntian Jiang (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13271843.txt.
Description
Pamela Kell and co-authors validate a blood and urine marker for a rare childhood disease in a 2026 study. GM1 gangliosidosis is a storage disorder in which a missing enzyme lets fatty material pile up in cells, steadily harming the brain. Diagnosis rests on enzyme and gene tests, but neither tracks how much material has built up or whether a treatment is working. A sugar fragment called H3N2b may fill that gap.
Using a precise mass-based assay, the team measured the marker in plasma, urine, and spinal fluid from patients and from matched healthy controls. A small set of samples from sibling storage disorders tested its specificity. A marker that moves with the disease could serve twice: easing diagnosis and giving trials a live readout of response.
Catalog record
| CREATOR | Pamela Kell, Sonali Mishra, Precilla D'Souza, Cynthia J Tifft, Dennis J Dietzen, Laura Duque Lasio, Jennifer Powers Carson, Xinying Hong, Raphael Schiffmann, María Dolores Ledesma, Nahid Tayebi, Patricia I Dickson, Forbes D Porter, Daniel S Ory, Xuntian Jiang |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 38 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |