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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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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Panicker, Leelamma M, Srikanth, Manasa P, Castro-Gomes, Thiago, Miller, Diana, Andrews, Norma W, Feldman, Ricardo A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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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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