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Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition
Gaucher disease (GD) is caused by bi-allelic mutations in GBA1, the gene that encodes acid β-glucocerebrosidase (GCase). Individuals affected by GD have hematologic, visceral and bone abnormalities, and in severe cases there is also neurodegeneration. To shed light on the mechanisms by which mutant...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6454561/ https://ncbi.nlm.nih.gov/pubmed/29301038 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx442 |
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