Article

Systems-level investigation of mucopolysaccharidosis IIIA identifies deficient synaptic activity as a key driver of disease progression

2022-10-04

Abstract excerpt

Mucopolysaccharidoses are lysosomal storage diseases that collectively represent a major cause of lethal, treatment-refractory childhood dementias 1–7 Clinically-useful interventions are hampered due to an incomplete understanding of their neuropathological origins. Using the zebrafish sgsh model of mucopolysaccharidosis IIIA 8 (MPS IIIA, Sanfilippo syndrome A), we conducted several ‘omics-based analyses, and d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b84824a5-2dd9-5a8d-8f99-92dea3ff48c4
DOI: 10.1101/2022.10.03.510585

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systems-level investigation of mucopolysaccharidosis IIIA identifies deficient synaptic activity as a key driver of disease progressionDOI 10.1101/2022.10.03.510585Read

Zebrafish models of Mucopolysaccharidosis IIIA, IIIB, and IIIC show hyperactivity, neuroinflammation and changes in oligodendrocyte cell stateSemantic proximity Read

Multi-omics analyses of early-onset familial Alzheimer’s disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanismsSemantic proximity Read

Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIBSemantic proximity Read

Clinical and Genetic Landscapes of Mucopolysaccharidosis Type III in 20 Chinese PatientsSemantic proximity Read

Sanfilippo syndrome: causes, consequences, and treatmentsSemantic proximity Read

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.Semantic proximity Read

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse ModelSemantic proximity Read

Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.Semantic proximity Read

A Drosophila model of mucopolysaccharidosis IIIB.Semantic proximity Read

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo DiseaseSemantic proximity Read

Cognitive impairment and progressive neuroinflammation in mucopolysaccharidosis IIIA mice expressing the R245H Sgsh variantSemantic proximity Read

Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patientsSemantic proximity Read