Peer-reviewed veterinary case report

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.

Journal:: The Journal of clinical investigation
Year:: 2025
Authors:: Le, Steven Q et al.
Species:: rodent

Abstract

A biomarker in spinal fluid reflects brain disease in a rare genetic disorder, with implications for how we diagnose and monitor the disease.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/40875527/

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.Scientific reports · 2017
Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.Molecular genetics and metabolism · 2020
Differential distribution of heparan sulfate glycoforms and elevated expression of heparan sulfate biosynthetic enzyme genes in the brain of mucopolysaccharidosis IIIB mice.Metabolic brain disease · 2011
Repetitive, non-invasive imaging of neurodegeneration, and prevention of it with gene replacement, in mice with Sanfilippo syndrome.Experimental neurology · 2024