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  1. biosignaling.biomedcentral.com › articles › 10FHF1 is a bona fide fibroblast growth factor that activates ...

    May 1, 2020 · FHF1 binding causes efficient FGFR activation and initiation of receptor-dependent signaling cascades. However, the biological effect of FHF1 differs from the one elicited by canonical FGFs, as extracellular FHF1 protects cells from apoptosis, but is unable to stimulate cell division.

    • Martyna Sochacka, Lukasz Opalinski, Jakub Szymczyk, Marta B. Zimoch, Aleksandra Czyrek, Daniel Krowa...
    • 2020

  2. www.ncbi.nlm.nih.gov › pmc › articlesDefining the phenotype of FHF1 developmental and epileptic ...

    Fibroblast-growth-factor homologous factor ( FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electro-clinical phenotypic spectrum of patients with pathogenic FHF1 variants.

    • Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekiers...
    • 10.1111/epi.16582
    • 2020
    • 2020/07

  3. www.neurology.org › doi › 10FHF1 (FGF12) epileptic encephalopathy | Neurology Genetics

    Oct 28, 2016 · Voltage-gated sodium channels (Na v s) are mainstays of neuronal function, and mutations in the genes encoding CNS Na v s (Na v 1.1 [ SCN1A ], Na v 1.2 [ SCN2A ], Na v 1.3 [ SCN3A ], and Na v 1.6 [ SCN8A ]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE). 1 Fibroblast-growth-factor ...

  4. www.ncbi.nlm.nih.gov › pmc › articlesGain-of-function FHF1 mutation causes early-onset epileptic ...

    Jun 7, 2016 · Our data demonstrate that gain-of-function FHF1 mutation causes human disease (familial EOEE with progressive cerebellar atrophy). Together with other recent studies, 3,– 5 our findings suggest an FHF/Na v axis underlying EOEE. This is the first disorder linked with FHF1 and with FHF gene gain-of-function.

    • Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter A...
    • 10.1212/WNL.0000000000002752
    • 2016
    • Neurology. 2016 Jun 7; 86(23): 2162-2170.

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  6. pubmed.ncbi.nlm.nih.gov › 27164707Gain-of-function FHF1 mutation causes early-onset epileptic ...

    Jun 7, 2016 · Conclusions: Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy. © 2016 American Academy of Neurology.

    • Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter A...
    • 2016

  7. www.nature.com › articles › s44161/022/00060-6Fibroblast growth factor homologous factors serve as a ...

    May 16, 2022 · Published: 16 May 2022. Fibroblast growth factor homologous factors serve as a molecular rheostat in tuning arrhythmogenic cardiac late sodium current. Nourdine Chakouri, Sharen Rivas, Daniel...

  8. www.ncbi.nlm.nih.gov › pmc › articlesFHF1 is a bona fide fibroblast growth factor that activates ...

    May 1, 2020 · FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner - PMC. Journal List. Cell Commun Signal. v.18; 2020. PMC7193404. As a library, NLM provides access to scientific literature.