Article

Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice

2024-05-03

Abstract excerpt

There is no cure for Marinesco-Sjögren syndrome (MSS), a genetic multisystem disease linked to loss-of-function mutations in the SIL1 gene, encoding a BiP co-chaperone. We previously found that the PERK kinase inhibitor GSK2606414 delayed cerebellar Purkinje cell (PC) degeneration and the onset of ataxia in the woozy mouse model of MSS. However, GSK2606414 is toxic to the pancreas and does not completely rescue t...

Topics

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

Identifiers and source

Literature Corpus work: 7203083d-5fbe-570f-b19e-6b85f2d7c9ff
DOI: 10.1101/2024.04.30.591862

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome miceDOI 10.1101/2024.04.30.591862Read

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.Semantic proximity Read

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP.Semantic proximity Read

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.Semantic proximity Read

Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.Semantic proximity Read

Long-Term Benefits of TUDCA Supplement in ARSACS Zebrafish ModelSemantic proximity Read

Pharmacological Therapies for Machado-Joseph Disease.Semantic proximity Read

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Semantic proximity Read

Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia.Semantic proximity Read

Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.Semantic proximity Read

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.Semantic proximity Read

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.Semantic proximity Read

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.Semantic proximity Read