Associated Papers
Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.
Zavala L et al.
Biorxiv : the Preprint Server for Biology, 2025
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
Kuroda Y et al.
Journal of Human Genetics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.
Jo YH et al.
Annals of Clinical and Laboratory Science, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.
Chen H et al.
Neurogenetics, 2022
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM et al.
Nature Genetics, 2017
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