Article

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome

2024-11-01

Abstract excerpt

Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the SLC9A6 gene are responsible for CS, and we recently demonstrated that a mutation to the rat Slc9a6 gene causes a similar phenotype in the spontaneous shaker rat model, which exhibits cerebellar degen...

Topics

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

Identifiers and source

Literature Corpus work: 1c594490-400c-5f2e-90e7-69a2b40c5d3d
DOI: 10.1101/2024.10.31.621435

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndromeDOI 10.1101/2024.10.31.621435Read

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar motor and molecular abnormalities in the shaker rat model of Christianson syndrome.Semantic proximity Read

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker ratSemantic proximity Read

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.Semantic proximity Read

Behavioral Efficacy of AAV FOXG1 Gene Replacement Therapy in a Mouse Model of FOXG1 SyndromeSemantic proximity Read

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.Semantic proximity Read

TAF1 -gene editing impairs Purkinje cell morphology and functionSemantic proximity Read

Exacerbation of a Subset of Behavioral Phenotypes by Early Treatment with AAV FOXG1 Gene Replacement Therapy in a Mouse Model of FOXG1 SyndromeSemantic proximity Read

Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategiesSemantic proximity Read

Gene editing in rat embryonic stem cells to produce in vitro models and in vivo reportersSemantic proximity Read

Amelioration of Leigh syndrome induced by mouse blastocyst complementation with a mutant human mitochondrial ATP synthase 6Semantic proximity Read

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.Semantic proximity Read

Intravenous gene therapy improves lifespan and clinical outcomes in feline Sandhoff DiseaseSemantic proximity Read

Viral vector-mediated <i>SLC9A6</i> gene replacement reduces cerebellar dysfunction in the <i>shaker</i> rat model of Christianson syndrome

Abstract excerpt

Topics

Identifiers and source

Related research