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Familial dysautonomia.
González-Duarte A, Cotrina-Vidal M, Kaufmann H, Norcliffe-Kaufmann L. González-Duarte A, et al. Clin Auton Res. 2023 Jun;33(3):269-280. doi: 10.1007/s10286-023-00941-1. Epub 2023 May 19. Clin Auton Res. 2023. PMID: 37204536 Review.
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. ...
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at b …
Longitudinal changes in the macula and optic nerve in familial dysautonomia.
Kfir J, Wu M, Liu M, Raju L, Schuman JS, Ishikawa H, Vanegas IM, Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Morgenstein B, Kaufmann H, Wollstein G. Kfir J, et al. J Neurol. 2021 Apr;268(4):1402-1409. doi: 10.1007/s00415-020-10298-4. Epub 2020 Nov 12. J Neurol. 2021. PMID: 33180192 Free PMC article.
OBJECTIVE: Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we characterized the structural changes in the macula, peripapillary and the optic nerve head (ONH) regions in subjects with FD. ...
OBJECTIVE: Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we …
Parasympathetic neurons derived from human pluripotent stem cells model human diseases and development.
Wu HF, Saito-Diaz K, Huang CW, McAlpine JL, Seo DE, Magruder DS, Ishan M, Bergeron HC, Delaney WH, Santori FR, Krishnaswamy S, Hart GW, Chen YW, Hogan RJ, Liu HX, Ivanova NB, Zeltner N. Wu HF, et al. Cell Stem Cell. 2024 May 2;31(5):734-753.e8. doi: 10.1016/j.stem.2024.03.011. Epub 2024 Apr 11. Cell Stem Cell. 2024. PMID: 38608707
We employ these neurons (1) to assess human autonomic nervous system (ANS) development, (2) to model neuropathy in the genetic disorder familial dysautonomia (FD), (3) to show parasymN dysfunction during SARS-CoV-2 infection, (4) to model the autoimmune disease Sjog …
We employ these neurons (1) to assess human autonomic nervous system (ANS) development, (2) to model neuropathy in the genetic disorder f …
Frequency and burden of gastrointestinal symptoms in familial dysautonomia.
Ramprasad C, Norcliffe-Kaufmann L, Palma JA, Levy J, Zhang Y, Spalink CL, Khan A, Smukalla S, Kaufmann H, Chen LA. Ramprasad C, et al. Clin Auton Res. 2021 Feb;31(1):109-116. doi: 10.1007/s10286-020-00735-9. Epub 2020 Oct 6. Clin Auton Res. 2021. PMID: 33025279 Free PMC article.
PURPOSE: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (HSAN-3) that is clinically characterized by impaired pain and temperature perception and abnormal autonomic function. ...
PURPOSE: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (HSAN-3) that is clinically characte …
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Schultz A, Cheng SY, Kirchner E, Costello S, Miettinen H, Chaverra M, King C, George L, Zhao X, Narasimhan J, Weetall M, Slaugenhaupt S, Morini E, Punzo C, Lefcort F. Schultz A, et al. Sci Rep. 2023 Oct 30;13(1):18600. doi: 10.1038/s41598-023-45376-w. Sci Rep. 2023. PMID: 37903840 Free PMC article.
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene. ...
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elo …
Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.
Vahidi G, Flook H, Sherk V, Mergy M, Lefcort F, Heveran CM. Vahidi G, et al. Osteoporos Int. 2021 Nov;32(11):2335-2346. doi: 10.1007/s00198-021-06006-1. Epub 2021 May 25. Osteoporos Int. 2021. PMID: 34036438 Free PMC article.
PURPOSE: Familial dysautonomia (FD) is associated with a high prevalence of bone fractures, but the impacts of the disease on bone mass and quality are unclear. ...
PURPOSE: Familial dysautonomia (FD) is associated with a high prevalence of bone fractures, but the impacts of the disease on …
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
Ajiro M, Awaya T, Kim YJ, Iida K, Denawa M, Tanaka N, Kurosawa R, Matsushima S, Shibata S, Sakamoto T, Studer L, Krainer AR, Hagiwara M. Ajiro M, et al. Nat Commun. 2021 Jul 23;12(1):4507. doi: 10.1038/s41467-021-24705-5. Nat Commun. 2021. PMID: 34301951 Free PMC article.
Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion is specifically promoted by a small molecule splice modulator, RECTAS, even though IKBKAP-FD exon 20 has a suboptimal 5' splice site due to the IVS20 + 6 T > C mutation. .. …
Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion is specifically promoted by a small …
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I, Ronzitti G, Morini E, Slaugenhaupt SA, Pagani F. Romano G, et al. Am J Hum Genet. 2022 Aug 4;109(8):1534-1548. doi: 10.1016/j.ajhg.2022.07.004. Epub 2022 Jul 28. Am J Hum Genet. 2022. PMID: 35905737 Free PMC article.
Familial dysautonomia (FD) is a currently untreatable, neurodegenerative disease caused by a splicing mutation (c.2204+6T>C) that causes skipping of exon 20 of the elongator complex protein 1 (ELP1) pre-mRNA. ...
Familial dysautonomia (FD) is a currently untreatable, neurodegenerative disease caused by a splicing mutation (c.2204+6T>C …
Height, weight, and body mass index in patients with familial dysautonomia.
Cotrina ML, Morgenstein B, Perez M, Norcliffe-Kaufmann L, Palma JA, Kaufmann H. Cotrina ML, et al. PLoS One. 2023 Nov 9;18(11):e0293800. doi: 10.1371/journal.pone.0293800. eCollection 2023. PLoS One. 2023. PMID: 37943786 Free PMC article.
BACKGROUND: Children with familial dysautonomia (FD) are smaller and grow more slowly than the general population. ...
BACKGROUND: Children with familial dysautonomia (FD) are smaller and grow more slowly than the general population. ...
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.
Cheney AM, Costello SM, Pinkham NV, Waldum A, Broadaway SC, Cotrina-Vidal M, Mergy M, Tripet B, Kominsky DJ, Grifka-Walk HM, Kaufmann H, Norcliffe-Kaufmann L, Peach JT, Bothner B, Lefcort F, Copié V, Walk ST. Cheney AM, et al. Nat Commun. 2023 Jan 13;14(1):218. doi: 10.1038/s41467-023-35787-8. Nat Commun. 2023. PMID: 36639365 Free PMC article.
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degeneration of both the peripheral and central nervous systems. ...
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degen …
26 results