| First Author | Manzolillo A | Year | 2024 |
| Journal | Front Mol Neurosci | Volume | 17 |
| Pages | 1356343 | PubMed ID | 38559586 |
| Mgi Jnum | J:346856 | Mgi Id | MGI:7618694 |
| Doi | 10.3389/fnmol.2024.1356343 | Citation | Manzolillo A, et al. (2024) Knockdown of INPP5K compromises the differentiation of N2A cells. Front Mol Neurosci 17:1356343 |
| abstractText | Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase activity toward phosphoinositides (PIs). Mutations in INPP5K are associated with autosomal recessive congenital muscular dystrophy with cataracts and intellectual disability (MDCCAID). Notably, muscular dystrophy is characterized by the hypoglycosylation of dystroglycan. Thus, far, the underlying mechanisms are only partially understood. In this study, we show that INPP5K expression increases during brain development. Knockdown of INPP5K in the neuroblastoma-derived cell line N2A impaired their neuronal-like differentiation and interfered with protein glycosylation. |
