SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Heterozygous de novo missense variants of SRP54 were recently identified in patients with congenital neutropenia (CN) who display symptoms that overlap with Shwachman-Diamond syndrome (SDS). Here, we investigate srp54 knockout zebrafish as the first in vivo model of SRP54 deficiency. srp54(−/−) zebr...

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Dettagli Bibliografici
Pubblicato in:Blood
Autori principali: Schürch, Christoph, Schaefer, Thorsten, Müller, Joëlle S., Hanns, Pauline, Arnone, Marlon, Dumlin, Alain, Schärer, Jonas, Sinning, Irmgard, Wild, Klemens, Skokowa, Julia, Welte, Karl, Carapito, Raphael, Bahram, Seiamak, Konantz, Martina, Lengerke, Claudia
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2021
Soggetti:
Immunobiology and Immunotherapy
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7994924/
https://ncbi.nlm.nih.gov/pubmed/33227812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2020008115
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