Fhf2 gene deletion causes temperature-sensitive cardiac conduction failure

Autor: David S. Park, Akshay Shekhar, Christopher Marra, Xianming Lin, Carolina Vasquez, Sergio Solinas, Kevin Kelley, Gregory Morley, Mitchell Goldfarb, Glenn I. Fishman

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)

Fever is a defence mechanism against infection, but it may also cause abnormal heart rhythm viaunknown mechanism. Here the authors identify FHF2 protein as a key regulator of myocardial excitability that protects the heart against conduction failure

Externí odkaz: https://doaj.org/article/dbdb59efebce4638830ecefe86c9f954

Contrasting Ionic Mechanisms of Impaired Conduction in

Autor: John, Santucci, David S, Park, Akshay, Shekhar, Xianming, Lin, Lei, Bu, Naoko, Yamaguchi, Shana, Mintz, Ernest Whanwook, Chang, Alireza, Khodadadi-Jamayran, Gabriel, Redel-Traub, Mitchell, Goldfarb, Glenn I, Fishman

Publikováno v: Circulation. Arrhythmia and electrophysiology. 15(8)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f45a41308a30dc74a70ffeb52f659964
https://pubmed.ncbi.nlm.nih.gov/35862854

Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain‐of‐function FHF1(FGF12) missense mutation

Autor: Glenn I. Fishman, David S. Park, Mitchell Goldfarb, Ying Xie, Yue Liu, Akshay Shekhar, Vasilisa Iatckova, Christopher Marra, Libor Velíšek, Jana Velíšková

Publikováno v: Epilepsia

Objective Fibroblast growth factor homologous factors (FHFs) are brain and cardiac sodium channel-binding proteins that modulate channel density and inactivation gating. A recurrent de novo gain-of-function missense mutation in the FHF1(FGF12) gene (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b39acbb183987ed16ed53f53b8bf7e
https://doi.org/10.1111/epi.16916

Enhanced sodium channel inactivation by temperature and FHF2 deficiency blocks heat nociception

Autor: Christopher Marra, Timothy V. Hartke, Matthias Ringkamp, Mitchell Goldfarb

Publikováno v: Pain.

Transient voltage-gated sodium currents are essential for the initiation and conduction of action potentials in neurons and cardiomyocytes. The amplitude and duration of sodium currents are tuned by intracellular fibroblast growth factor homologous f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20850ff4bba8d6b9655063cd33c94e65
https://pubmed.ncbi.nlm.nih.gov/36607284

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Autor: Adam T. Higgins, Mitchell Goldfarb, Denise Williams, Xiaodong Wang, Anna V. Derrick, Kay Metcalfe, Ying Yang, Ronit Mesterman, Yuehua Zhang, Seo-Kyung Chung, Mark A. Tarnopolsky, Martin A. McClatchey, Sally J. Davies, Mark I. Rees, Shivaram Avula, Rajiv Mohanraj, Andrew E. Fry, William O. Pickrell, Lauren Brady, Christopher Marra, Hui Jeen Tan, Johann te Water Naude

Publikováno v: Fry, A E, Marra, C, Derrick, A V, Pickrell, W O, Higgins, A T, te Water Naude, J, McClatchey, M A, Davies, S J, Metcalfe, K A, Tan, H J, Mohanraj, R, Avula, S, Williams, D, Brady, L I, Mesterman, R, Tarnopolsky, M A, Zhang, Y, Yang, Y, Wang, X, Rees, M I, Goldfarb, M & Chung, S K 2021, ' Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy ', American Journal of Human Genetics, vol. 108, no. 1, pp. 176-185 . https://doi.org/10.1016/j.ajhg.2020.10.017
Am J Hum Genet

Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Na(v)) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee96fc122e6622a11042ddacdd08882c
https://orca.cardiff.ac.uk/id/eprint/136659/3/FHF2_DEE_R4_FINAL_merged.pdf