TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
2022 · Nature · 486 citations
https://doi.org/10.1038/s41586-022-04436-3
E
Emanuele Buratti
International Centre for Genetic Engineering and Biotechnology(IT)
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Emanuele Buratti is an academic researcher from International Centre for Genetic Engineering and Biotechnology. The author has contributed to research in topics: Amyotrophic Lateral Sclerosis Research & RNA Research and Splicing & Neurogenetic and Muscular Disorders Research. The author has an h-index of 72, co-authored 262 publications.
ORCID: 0000-0002-1356-9074Papers by this author
worksTDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail
2005 · Journal of Biological Chemistry · 454 citations
https://doi.org/10.1074/jbc.m505557200
Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9
2003 · Journal of Biological Chemistry · 137 citations
https://doi.org/10.1074/jbc.m212813200
Chapter 1 The Molecular Links Between TDP‐43 Dysfunction and Neurodegeneration
2009 · Advances in genetics · 96 citations
https://doi.org/10.1016/s0065-2660(09)66001-6
An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing
2004 · Journal of Biological Chemistry · 79 citations
https://doi.org/10.1074/jbc.m313439200
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
2023 · npj Genomic Medicine · 49 citations
https://doi.org/10.1038/s41525-023-00365-w
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