Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Lynne E. Maquat · PubMed · 1995 · 514 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro

Mark S. Carter, Jessica Doskow, Phillip Morris et al. · Journal of Biological Chemistry · 1995 · 326 citations · Full text

Life Sciences, Genetics, Immunology +17

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

Pavel Ivanov, Niels H. Gehring, Joachim B. Kunz et al. · The EMBO Journal · 2008 · 318 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +8