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Editorial
. 2023 May 4;141(18):2170-2172.
doi: 10.1182/blood.2023019949.

SLFN14 ribosomopathy and platelet dysfunction

Kiwon Lee  1 , Mortimer Poncz  1   2
Affiliations
Editorial

SLFN14 ribosomopathy and platelet dysfunction

Kiwon Lee et al. Blood. .
No abstract available

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

None
Proposed pathways underlying the phenotype of the SLFN14K219N variant. SLFN14K219N mutant leads to degradation of rRNA accompanied with compensatory activation of the mTORC1 pathway via phosphorylation of the ribosomal protein S6 kinase 1 (S6K1) at threonine 389 and enhanced ribosomal biogenesis. Inhibition of the mTORC1 pathway by rapamycin blocks ribosomal protein and increases degradation of rRNA. mTORC1 activation also leads to transcriptomic alteration and mitochondrial stress, resulting in thrombocytopenia and platelet dysfunction.
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References

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