L
Laura Dean Heckman
Researcher at Howard Hughes Medical Institute
Publications - 1
Citations - 55
Laura Dean Heckman is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Pontocerebellar hypoplasia & SnRNA processing. The author has an hindex of 1, co-authored 1 publications receiving 42 citations.
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Rea M. Lardelli,Ashleigh E. Schaffer,Ashleigh E. Schaffer,Veerle Rc Eggens,Maha S. Zaki,Stephanie Grainger,Shashank Sathe,Eric L. Van Nostrand,Zinayida Schlachetzki,Basak Rosti,Naiara Akizu,Eric Scott,Jennifer L. Silhavy,Laura Dean Heckman,Rasim Ozgur Rosti,Esra Dikoglu,Anne Gregor,Alicia Guemez-Gamboa,Damir Musaev,Rohit Mande,Ari Widjaja,Timothy Shaw,Sebastian Markmiller,Isaac Marin-Valencia,Justin H Davies,Linda De Meirleir,Hülya Kayserili,Umut Altunoglu,Mary Louise Freckmann,Linda Warwick,David Chitayat,Susan Blaser,Ahmet Okay Caglayan,Ahmet Okay Caglayan,Kaya Bilguvar,Hüseyin Per,Christina Fagerberg,Henrik Thybo Christesen,Maria Kibaek,Kimberly A. Aldinger,David K. Manchester,Naomichi Matsumoto,Kazuhiro Muramatsu,Hirotomo Saitsu,Hirotomo Saitsu,Masaaki Shiina,Kazuhiro Ogata,Nicola Foulds,William B. Dobyns,Neil C. Chi,David Traver,Luigina Spaccini,Stefania Maria Bova,Stacey Gabriel,Murat Gunel,Enza Maria Valente,Marie-Cécile Nassogne,Eric J. Bennett,Gene W. Yeo,Gene W. Yeo,Frank Baas,Jens Lykke-Andersen,Joseph G. Gleeson,Joseph G. Gleeson +63 more
TL;DR: The cause of a neurodegenerative syndrome linked to snRNA maturation is identified and a key factor involved in the processing of snRNA 3′ ends is uncovered.