PMC Links for Nucleotide (Select 1675171423) - PMC

Select item 64516981.

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory G. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis, Susan A. Slaugenhaupt

Am J Hum Genet. 2019 Apr 4; 104(4): 638–650. Published online 2019 Mar 21. doi: 10.1016/j.ajhg.2019.02.009

PMCID:: PMC6451698

Abstract Article PDF–1.8M

Select item 61256182.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Gitte H Bruun, Jeanne M V Bang, Lise L Christensen, Sabrina Brøner, Ulrika S S Petersen, Barbara Guerra, Alexander G B Grønning, Thomas K Doktor, Brage S Andresen

Nucleic Acids Res. 2018 Sep 6; 46(15): 7938–7952. Published online 2018 May 14. doi: 10.1093/nar/gky395

PMCID:: PMC6125618

Abstract Article PDF–3.1M

Select item 60309173.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Irving Donadon, Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani, Elena Barbon, Elisabetta Morini, Helena Motaln, Boris Rogelj, Federico Mingozzi, Susan A Slaugenhaupt, Franco Pagani

Hum Mol Genet. 2018 Jul 15; 27(14): 2466–2476. Published online 2018 Apr 25. doi: 10.1093/hmg/ddy151

Correction in:: Hum Mol Genet. 2024 May 1; 33(9): 836.

PMCID:: PMC6030917

Abstract Article PDF–682K

Select item 12744734.

Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra P. Gill, Maire Leyne, James Mull, Math P. Cuajungco, Christopher B. Liebert, Brian Chadwick, Maria Idelson, Luba Reznik, Christiane M. Robbins, Izabela Makalowska, Michael J. Brownstein, Daniel Krappmann, Claus Scheidereit, Channa Maayan, Felicia B. Axelrod, James F. Gusella

Am J Hum Genet. 2001 Mar; 68(3): 598–605. Published online 2001 Jan 22. doi: 10.1086/318810

PMCID:: PMC1274473

Abstract Article PDF–1.2M

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