Article

Decreasing ganglioside synthesis delays motor and cognitive symptom onset in <i>Spg11</i> knockout mice

2024-01-29

Abstract excerpt

Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with accumulation of gangliosides in lysosomes. To test whether a substrate reduction therapy could be a therapeutic op...

Topics

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

Identifiers and source

Literature Corpus work: 1848b3e2-6b42-5ce7-b707-282a8f90f4b5
DOI: 10.1101/2024.01.29.577736

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Decreasing ganglioside synthesis delays motor and cognitive symptom onset in <i>Spg11</i> knockout miceDOI 10.1101/2024.01.29.577736Read

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.Semantic proximity Read

Progressive neuroinflammation and deficits in motor function in a mouse model with an <i>Epg5</i> pathogenic variant of Vici syndromeSemantic proximity Read

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

Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model.Semantic proximity Read

Targeting <i>Gys1</i> with AAV‐SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse modelsSemantic proximity Read

Patient-Specific Midbrain Organoids with CRISPR Correction Recapitulate Neuronopathic Gaucher Disease Phenotypes and Enable Evaluation of Novel TherapiesSemantic proximity Read

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.Semantic proximity Read

sPLA2-IIA modifies progranulin deficiency phenotypes in mouse models.Semantic proximity Read

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosisSemantic proximity Read

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.Semantic proximity Read

Pyridoxine supplementation confers protection against <i> SGPL1 <sup>R222Q</sup> </i> variant sphingosine phosphate lyase insufficiency syndromeSemantic proximity Read

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.Semantic proximity Read