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Select item 98396931.

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

Alexandra M. Cheney, Stephanann M. Costello, Nicholas V. Pinkham, Annie Waldum, Susan C. Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J. Kominsky, Heather M. Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T. Peach, Brian Bothner, Frances Lefcort, Valérie Copié, Seth T. Walk

Nat Commun. 2023; 14: 218. Published online 2023 Jan 13. doi: 10.1038/s41467-023-35787-8

PMCID:: PMC9839693

Abstract Article PDF–1.4M

Select item 85634192.

Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia

Ghazal Vahidi, Hannah Flook, Vanessa Sherk, Marc Mergy, Frances Lefcort, Chelsea M. Heveran

Osteoporos Int. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: Osteoporos Int. 2021 Nov; 32(11): 2335–2346. Published online 2021 May 25. doi: 10.1007/s00198-021-06006-1

PMCID:: PMC8563419

Abstract Article PDF–880K

Select item 69063343.

Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility

Kuo-Tai Yang, Azusa Inoue, Yi-Jing Lee, Chung-Lin Jiang, Fu-Jung Lin

Sci Rep. 2019; 9: 18875. Published online 2019 Dec 11. doi: 10.1038/s41598-019-55090-1

PMCID:: PMC6906334

Abstract Article PDF–1.4M

Select item 47641934.

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

Elisabetta Morini, Paula Dietrich, Monica Salani, Heather M. Downs, Gregory R. Wojtkiewicz, Shanta Alli, Anthony Brenner, Mats Nilbratt, John W. LeClair, Anne Louise Oaklander, Susan A. Slaugenhaupt, Ioannis Dragatsis

Hum Mol Genet. 2016 Mar 15; 25(6): 1116–1128. Published online 2016 Jan 13. doi: 10.1093/hmg/ddv634

PMCID:: PMC4764193

Abstract Article PDF–1.0M

Select item 39974295.

IKAP Deficiency in an FD Mouse Model and in Oligodendrocyte Precursor Cells Results in Downregulation of Genes Involved in Oligodendrocyte Differentiation and Myelin Formation

David Cheishvili, Paula Dietrich, Channa Maayan, Aviel Even, Miguel Weil, Ioannis Dragatsis, Aharon Razin

PLoS One. 2014; 9(4): e94612. Published online 2014 Apr 23. doi: 10.1371/journal.pone.0094612

PMCID:: PMC3997429

Abstract Article PDF–855K

Select item 36626456.

Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression

Fu-Jung Lin, Li Shen, Chuan-Wei Jang, Pål Ø. Falnes, Yi Zhang

PLoS Genet. 2013 May; 9(5): e1003516. Published online 2013 May 23. doi: 10.1371/journal.pgen.1003516

PMCID:: PMC3662645

Abstract Article PDF–10M

Select item 86139917.

Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation

Wei-Ting Chen, Huan-Yi Tseng, Chung-Lin Jiang, Chih-Ying Lee, Peter Chi, Liuh-Yow Chen, Kai-Yin Lo, I-Ching Wang, Fu-Jung Lin

J Biomed Sci. 2021; 28: 81. Published online 2021 Nov 24. doi: 10.1186/s12929-021-00773-z

PMCID:: PMC8613991

Abstract Article PDF–3.4M

Select item 64516988.

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 60784109.

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Yumi Ueki, Veronika Shchepetkina, Frances Lefcort

Dis Model Mech. 2018 Jul 1; 11(7): dmm033746. Published online 2018 Jul 30. doi: 10.1242/dmm.033746

PMCID:: PMC6078410

Abstract Article

Select item 555890910.

RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in the IKBKAP gene of familial dysautonomia

Kenji Ohe, Mayumi Yoshida, Akiko Nakano-Kobayashi, Motoyasu Hosokawa, Yukiya Sako, Maki Sakuma, Yukiko Okuno, Tomomi Usui, Kensuke Ninomiya, Takayuki Nojima, Naoyuki Kataoka, Masatoshi Hagiwara

RNA. 2017 Sep; 23(9): 1393–1403. doi: 10.1261/rna.059428.116

PMCID:: PMC5558909

Abstract Article PDF–9.4M

Select item 503732311.

Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia

Yumi Ueki, Grisela Ramirez, Ernesto Salcedo, Maureen E. Stabio, Frances Lefcort

eNeuro. 2016 Sep-Oct; 3(5): ENEURO.0143-16.2016. Prepublished online 2016 Sep 19. Published online 2016 Sep 27. doi: 10.1523/ENEURO.0143-16.2016

PMCID:: PMC5037323

Abstract Article PDF–9.3M

Select item 197643012.

A humanized IKBKAP transgenic mouse models a tissue specific human splicing defect

Matthew M. Hims, Ranjit S. Shetty, James Pickel, James Mull, Maire Leyne, Lijuan Liu, James F. Gusella, Susan A. Slaugenhaupt

Genomics. Author manuscript; available in PMC 2008 Mar 1.

Published in final edited form as: Genomics. 2007 Sep; 90(3): 389–396. Published online 2007 Jul 17. doi: 10.1016/j.ygeno.2007.05.012

PMCID:: PMC1976430

Abstract Article PDF–1.1M

Select item 967190913.

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Hsueh-Fu Wu, Wenxin Yu, Kenyi Saito-Diaz, Chia-Wei Huang, Joseph Carey, Frances Lefcort, Gerald W. Hart, Hong-Xiang Liu, Nadja Zeltner

Nat Commun. 2022; 13: 7032. Published online 2022 Nov 17. doi: 10.1038/s41467-022-34811-7

PMCID:: PMC9671909

Abstract Article PDF–4.1M

Select item 603091714.

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