Varaico: Literature-Extracted Genetic Variants

Gene:TSEN34
Variant:p.R58W
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TSEN34

NM_001077446.4:p.R58W

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

New insights into RNA processing by the eukaryotic tRNA splicing endonuclease.

Hayne CK et al.

The Journal of Biological Chemistry, 2023

Structural basis of substrate recognition by human tRNA splicing endonuclease TSEN.

Sekulovski S et al.

Nature Structural & Molecular Biology, 2023

Structural basis for pre-tRNA recognition and processing by the human tRNA splicing endonuclease complex.

Hayne CK et al.

Nature Structural & Molecular Biology, 2023

What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?

Sekulovski S et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023

Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.

Hayne CK et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.

Sekulovski S et al.

Nature Communications, 2021

Pontocerebellar hypoplasia.

Rudnik-Schöneborn S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T et al.

European Journal of Medical Genetics, 2013

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y et al.

Orphanet Journal of Rare Diseases, 2011

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y et al.

Brain : a Journal of Neurology, 2011

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.

Bailey KA et al.

Clinical Genetics, 2009

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS et al.

Nature Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."