FHF-independent conduction of action potentials along the leak-resistant cerebellar granule cell axon

Autor: Katarzyna Dover, Christopher Marra, Sergio Solinas, Marko Popovic, Sathyaa Subramaniyam, Dejan Zecevic, Egidio D’Angelo, Mitchell Goldfarb

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)

FHFs are known to regulate voltage-gated sodium channels (NaVs). Here, the authors compare the role of FHFs in cerebellar granule cell propagation, and find NaVs in the distal axon function independently of FHFs, allowing for faster inactivation rate

Externí odkaz: https://doaj.org/article/23b209ca322947afa3adc05e33877f8c

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

Balancing the Varied Needs of Master of Music Education Students: Perceptions From Program Directors and Alumni

Autor: Colleen Conway, Jessica Vaughan-Marra, Christopher Marra

Publikováno v: Journal of Research in Music Education. 69:105-120

The purpose of this study was to examine the perceptions of master of music education degree program directors and alumni from selected schools regarding the ways in which their music education master’s programs balance the varied needs of program

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::409e4cb4ce215ccab533ef4e893b407e
https://doi.org/10.1177/0022429420951953

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

Fhf2 gene deletion causes temperature-sensitive cardiac conduction failure

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

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

Fever is a highly conserved systemic response to infection dating back over 600 million years. Although conferring a survival benefit, fever can negatively impact the function of excitable tissues, such as the heart, producing cardiac arrhythmias. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7ea2c1a03b769e146b0563c7f6310c
https://doi.org/10.1038/ncomms12966