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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
Mutations in SNX14 cause the autosomal recessive cerebellar ataxia 20 (SCAR20). Mutations generally result in loss of protein although several coding region deletions have also been reported. Patient-derived fibroblasts show disrupted autophagy, but the precise function of SNX14 is unknown. The yeas...
Tallennettuna:
| Julkaisussa: | Hum Mol Genet |
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| Päätekijät: | , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5961352/ https://ncbi.nlm.nih.gov/pubmed/29635513 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy101 |
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