Article

Exploring therapeutic strategies for Infantile Neuronal Axonal Dystrophy (INAD/ <i>PARK14</i> )

2022-08-16

Abstract excerpt

Infantile Neuroaxonal Dystrophy (INAD) is caused by recessive variants in PLA2G6 and is a lethal pediatric neurodegenerative disorder. Loss of the Drosophila homolog of PLA2G6 , leads to ceramide accumulation, lysosome expansion, and mitochondrial defects. Here, we report that ceramide metabolism, the endolysosomal pathway, and mitochondrial morphology are affected in INAD patient-derived neurons. We show that...

Topics

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

Identifiers and source

Literature Corpus work: 9c2c7ad5-fff5-59b1-92a7-3417facb0bc5
DOI: 10.1101/2022.08.16.504080

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exploring therapeutic strategies for Infantile Neuronal Axonal Dystrophy (INAD/ <i>PARK14</i> )DOI 10.1101/2022.08.16.504080Read

The Natural History of Infantile Neuroaxonal DystrophySemantic proximity Read

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.Semantic proximity Read

The natural history of infantile neuroaxonal dystrophy.Semantic proximity Read

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.Semantic proximity Read

Mouse models of human INAD by Pla2g6 deficiency.Semantic proximity Read

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.Semantic proximity Read

iPLA <sub>2</sub> -VIA is required for healthy aging in neurons, muscle, and female germline in <i>Drosophila melanogaster</i>Semantic proximity Read

Sphingolipids in neurodegenerative diseasesSemantic proximity Read

Severe neurometabolic phenotype in <i>npc1</i> <sup>-/-</sup> zebrafish with a C-terminal mutationSemantic proximity Read

Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.Semantic proximity Read

Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.Semantic proximity Read

The role of the PLA2G6 gene in neurodegenerative diseases.Semantic proximity Read