Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)

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 retromer function, cera...

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Detalles Bibliográficos
Autores principales: Lin, Guang, Tepe, Burak, McGrane, Geoff, Tipon, Regine C, Croft, Gist, Panwala, Leena, Hope, Amanda, Liang, Agnes JH, Zuo, Zhongyuan, Byeon, Seul Kee, Wang, Lily, Pandey, Akhilesh, Bellen, Hugo J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889087/
https://www.ncbi.nlm.nih.gov/pubmed/36645408
http://dx.doi.org/10.7554/eLife.82555

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889087/
https://www.ncbi.nlm.nih.gov/pubmed/36645408
http://dx.doi.org/10.7554/eLife.82555

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