Associated Papers
Human SKI component SKIV2L regulates telomeric DNA-RNA hybrids and prevents telomere fragility.
Herrera-Moyano E et al.
Iscience, 2024
The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism.
Kögel A et al.
Molecular Cell, 2022
A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.
Orlando LJ et al.
Micropublication Biology, 2022
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
Zhang Q et al.
Frontiers in Genetics, 2021
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Vély F et al.
Frontiers in Immunology, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Eckard SC et al.
Nature Immunology, 2014
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A et al.
American Journal of Human Genetics, 2012
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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