Article

Diverse Species-Specific Phenotypic Consequences of Loss of Function <i>Sorting Nexin 14</i> Mutations

2019-11-11

Abstract excerpt

Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. SCAR20 is understood to involve subcellular disruption to autophagy and lipid metabolism. Previously reported studies on the phenotypic consequences of SNX14 mutations have been limited to in vitro investigation of patient-derived dermal fibroblasts, laboratory engineered cell lines and development...

Topics

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

Identifiers and source

Literature Corpus work: 0954ae57-6596-52fc-939e-937fdf71884f
DOI: 10.1101/838052

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Diverse Species-Specific Phenotypic Consequences of Loss of Function <i>Sorting Nexin 14</i> MutationsDOI 10.1101/838052Read

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.Semantic proximity Read

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.Semantic proximity Read

Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiencySemantic proximity Read

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Semantic proximity Read

Genetic analysis of sorting nexins 1 and 2 reveals a redundant and essential function in mice.Semantic proximity Read

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.Semantic proximity Read

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.Semantic proximity Read

CRISPR/Cas9-mediated nexilin deficiency interferes with cardiac contractile function in zebrafish in vivoSemantic proximity Read

SNAREs and developmental disorders.Semantic proximity Read

PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.Semantic proximity Read

Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 diseaseSemantic proximity Read

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.Semantic proximity Read