Associated Papers
Nabe: an energetic database of amino acid mutations in protein-nucleic acid binding interfaces.
Liu J et al.
Database : the Journal of Biological Databases and Curation, 2021
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Bryant CJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.
Maurel C et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.
McCann KL et al.
Elife, 2016
RNA-binding proteins in Mendelian disease.
Castello A et al.
Trends in Genetics : Tig, 2013
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
Spiegel R et al.
European Journal of Endocrinology, 2010
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
Nousbeck J et al.
American Journal of Human Genetics, 2008
Select a paper to view details