Associated Papers
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.
Yuan JH et al.
Journal of Human Genetics, 2025
Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature.
Parisi L et al.
Haematologica, 2025
40438980 (PubMed )
Supplement: 2025_287393_PARISI_SUPPL.pdf
Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.
Ammar M et al.
Annals of Hematology, 2025
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
Woods J et al.
Molecular Genetics and Metabolism Reports, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
Daniels EG et al.
Cold Spring Harbor Molecular Case Studies, 2019
31653659 (PubMed )
Supplement: supp_mcs.a004457_Supplemental_Material.pdf
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E et al.
Bmj Case Reports, 2009
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E et al.
Journal of Medical Genetics, 2007
Select a paper to view details