Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC1.pdf
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I et al.
Journal of Clinical Immunology, 2023
Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.
Chen X et al.
Frontiers in Pediatrics, 2023
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.
Orlando F et al.
Clinical Rheumatology, 2021
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling.
Frémond ML et al.
Annals of the Rheumatic Diseases, 2019
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