| Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. | Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.
Harper JL, Wilson TE, Mitchell RM. | 10/10/2020 |
| The results link biallelic variants in NFASC isoforms at glial cells to defects in the paranodal axoglial junctions and phenotypes that range from variable neurodevelopmental impairment to weakness, central hypomyelination, and peripheral chronic demyelinating neuropathy. | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J, SYNAPS Study Group, Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H., Free PMC Article | 07/18/2020 |
| we describe two affected siblings from a consanguineous Italian family presenting with infantile-onset ataxia and mild demyelinating polyneuropathy who carry a homozygous NFASC missense mutation. | Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. | 05/9/2020 |
| A novel homozygous NFASC mutation chr1:204953187-C>T (rs755160624) is described. The variant creates a premature stop codon in 3 out of four NFASC human transcripts and is predicted to specifically eliminate Nfasc155 leaving neuronal Neurofascin intact. The selective absence of Nfasc155 and disruption of the paranodal junction was confirmed in patient. | Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R., Free PMC Article | 04/27/2019 |
| data suggest that NFASC is a novel regulator of non-small cell lung cancer cell motility and support a role of NFASC in the regulation of non-small cell lung cancer progression | Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer.
Samulin Erdem J, Arnoldussen YJ, Skaug V, Haugen A, Zienolddiny S., Free PMC Article | 10/7/2017 |
| identified neurofascin as the target of the autoantibodies in Chronic inflammatory demyelination polyneuropathy patients. | Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.
Delmont E, Manso C, Querol L, Cortese A, Berardinelli A, Lozza A, Belghazi M, Malissart P, Labauge P, Taieb G, Yuki N, Illa I, Attarian S, Devaux JJ. | 09/2/2017 |
| -NF155 IgG4 antibodies were associated with a subgroup of patients with CIDP showing a younger age at onset, ataxia, tremor, CNS demyelination, and a poor response to IV immunoglobulin. | Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.
Devaux JJ, Miura Y, Fukami Y, Inoue T, Manso C, Belghazi M, Sekiguchi K, Kokubun N, Ichikawa H, Wong AH, Yuki N., Free PMC Article | 07/16/2016 |
| It is a common protein to the central and peripheral nervous system may play a pivotal role in combined demyelination in Combined central and peripheral demyelination. | [Neurofascin: a novel target for combined central and peripheral demyelination].
Kawamura N. | 10/24/2015 |
| Autoantibodies to NF155 identify a inflammatory demyelinating polyradiculoneuropathy subtype characterized by severe neuropathy, poor response to intravenous immunoglobulin, and disabling tremor. | Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.
Querol L, Nogales-Gadea G, Rojas-Garcia R, Diaz-Manera J, Pardo J, Ortega-Moreno A, Sedano MJ, Gallardo E, Berciano J, Blesa R, Dalmau J, Illa I., Free PMC Article | 05/17/2014 |
| Anti-neurofascin antibody is frequently present in patients with CCPD. | Anti-neurofascin antibody in patients with combined central and peripheral demyelination.
Kawamura N, Yamasaki R, Yonekawa T, Matsushita T, Kusunoki S, Nagayama S, Fukuda Y, Ogata H, Matsuse D, Murai H, Kira J. | 10/26/2013 |
| Three neuronal proteins (Huntingtin interacting protein 1, neurofascin, and olfactomedin-like 2a) are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation. | Neuronal proteins are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation.
Sistani L, Rodriguez PQ, Hultenby K, Uhlen M, Betsholtz C, Jalanko H, Tryggvason K, Wernerson A, Patrakka J. | 06/22/2013 |
| gliomedin, NF186, and contactin are novel target antigens in Guillain-Barre syndrome | Nodal proteins are target antigens in Guillain-Barré syndrome.
Devaux JJ, Odaka M, Yuki N. | 08/25/2012 |
| Neurofascin isoforms of 186, 180, 166 and 155 kDa are generated by alternative splicing and provide a switch between neuronal plasticity and stability. (Review) | Neurofascin: a switch between neuronal plasticity and stability.
Kriebel M, Wuchter J, Trinks S, Volkmer H. | 07/21/2012 |
| Cerebellar pinceau organization requires coordinated mechanisms involving specific neurofascin functions in both Purkinje and basket neurons. | Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development.
Buttermore ED, Piochon C, Wallace ML, Philpot BD, Hansel C, Bhat MA., Free PMC Article | 06/2/2012 |
| Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier | Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier.
Labasque M, Devaux JJ, Lévêque C, Faivre-Sarrailh C., Free PMC Article | 02/25/2012 |
| two crystal structures of a dimeric form of the headpiece of neurofascin | Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules.
Liu H, Focia PJ, He X., Free PMC Article | 02/5/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
Silva LK, Blanton RE, Parrado AR, Melo PS, Morato VG, Reis EA, Dias JP, Castro JM, Vasconcelos PF, Goddard KA, Barreto ML, Reis MG, Teixeira MG., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Nfasc isoforms use distinct protein-protein interaction modules to organize and stabilize specific axonal domains in myelinated axons. Loss of Nfasc immunoglobulin domains 5 and 6 in transgenic mice mimics complete ablation of Nfasc. | In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons.
Thaxton C, Pillai AM, Pribisko AL, Labasque M, Dupree JL, Faivre-Sarrailh C, Bhat MA., Free PMC Article | 05/3/2010 |
| in both mouse and human samples, the expression pattern of neurofascin 155(high) and neurofascin 155(low) is altered coincident with paranodal decay. | Novel forms of neurofascin 155 in the central nervous system: alterations in paranodal disruption models and multiple sclerosis.
Pomicter AD, Shroff SM, Fuss B, Sato-Bigbee C, Brophy PJ, Rasband MN, Bhat MA, Dupree JL., Free PMC Article | 03/22/2010 |
| a neurofascin intracellular domain activates FGFR1 for neurite outgrowth, whereas the extracellular domain functions as an additional, regulatory FGFR1 interaction domain in the course of development | Analysis of non-canonical fibroblast growth factor receptor 1 (FGFR1) interaction reveals regulatory and activating domains of neurofascin.
Kirschbaum K, Kriebel M, Kranz EU, Pötz O, Volkmer H., Free PMC Article | 01/21/2010 |
| antibodies to neurofascin selectively targeted nodes of Ranvier, resulting in deposition of complement, axonal injury, and disease exacerbation | Neurofascin as a novel target for autoantibody-mediated axonal injury.
Mathey EK, Derfuss T, Storch MK, Williams KR, Hales K, Woolley DR, Al-Hayani A, Davies SN, Rasband MN, Olsson T, Moldenhauer A, Velhin S, Hohlfeld R, Meinl E, Linington C., Free PMC Article | 01/21/2010 |
| raft-association of NF155 is essential for the assembly of the paranodal junction and reduced association to lipid rafts is accompanied by the disassembly of the paranodal junction and contributes to the demyelination process in multiple sclerosis | Reduced raft-association of NF155 in active MS-lesions is accompanied by the disruption of the paranodal junction.
Maier O, Baron W, Hoekstra D. | 01/21/2010 |
| different splicing variants of NF expressed on neurons and glia play distinct roles during neural development | Cell adhesion and neurite outgrowth are promoted by neurofascin NF155 and inhibited by NF186.
Koticha D, Babiarz J, Kane-Goldsmith N, Jacob J, Raju K, Grumet M. | 01/21/2010 |