neurofilament H


Gene Symbol: neurofilament H
Description: neurofilament heavy
Alias: CMT2CC, NFH, neurofilament heavy polypeptide, 200 kDa neurofilament protein, NF-H, neurofilament triplet H protein, neurofilament, heavy polypeptide 200kDa
Species: human
Products:     neurofilament H

Top Publications

  1. Collard J, Cote F, Julien J. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature. 1995;375:61-4 pubmed
  2. Figlewicz D, Krizus A, Martinoli M, Meininger V, Dib M, Rouleau G, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet. 1994;3:1757-61 pubmed
    ..We propose that changes in the KSP-repeat domain may affect the cross-linking properties of the heavy neurofilament subunit and perhaps contribute to the development of neurofilamentous swellings in motor neurons, a hallmark of ALS. ..
  3. Pant A, Veeranna -, Pant H, Amin N. Phosphorylation of human high molecular weight neurofilament protein (hNF-H) by neuronal cyclin-dependent kinase 5 (cdk5). Brain Res. 1997;765:259-66 pubmed
    ..It is proposed that neuronal cdk5 regulates phosphorylation of the KSPXK motif in hNF-H and other cytoskeletal proteins with similar motifs in the nervous system. ..
  4. Veeranna -, Amin N, Ahn N, Jaffe H, Winters C, Grant P, et al. Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-Pro (KSP) repeats in neurofilament proteins NF-H and NF-M. J Neurosci. 1998;18:4008-21 pubmed
    ..These data suggest that neuronal Erk1 and Erk2 are capable of phosphorylating serine residues in diverse KSP repeat motifs in NF-M and NF-H. ..
  5. al Chalabi A, Andersen P, Nilsson P, Chioza B, Andersson J, Russ C, et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet. 1999;8:157-64 pubmed
    ..The heavy neurofilament subunit (NFH) tail is composed of a repeating amino acid motif, usually X-lysine-serine-proline-Y-lysine (XKSPYK), where X is a ..
  6. Skvortsova V, Shadrina M, Slominsky P, Levitsky G, Kondratieva E, Zherebtsova A, et al. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). Eur J Hum Genet. 2004;12:241-4 pubmed
    ..In summary, we conclude that the NEFH gene is involved in the pathogenesis of sporadic MND. The SS genotype represents a risk factor for the development and progression of sporadic MND in the Moscow population. ..
  7. Garcia M, Singleton A, Hernandez D, Ward C, Evey C, Sapp P, et al. Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis. 2006;21:102-9 pubmed
    ..Thus, mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in ALS in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes of ALS. ..
  8. Kim M, Chang X, LeBron C, Nagpal J, Lee J, Huang Y, et al. Neurofilament heavy polypeptide regulates the Akt-beta-catenin pathway in human esophageal squamous cell carcinoma. PLoS ONE. 2010;5:e9003 pubmed publisher
    ..We observed promoter methylation and loss of expression in neurofilament heavy polypeptide (NEFH) in a significant proportion of primary esophageal squamous cell carcinoma (ESCC) samples that ..
  9. Ganesalingam J, An J, Bowser R, Andersen P, Shaw C. pNfH is a promising biomarker for ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:146-9 pubmed publisher
    ..1247, p = 0.001). In conclusion, pNfH represents a promising candidate for inclusion in a panel of diagnostic and prognostic biomarkers. ..

More Information

Publications128 found, 100 shown here

  1. Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter M. Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. Neuromuscul Disord. 2019;: pubmed publisher
    ..the neurofilament-heavy polypeptide (NEFH) gene have been described to cause Charcot-Marie-Tooth disease type 2CC (CMT2CC) by forming amyloidogenic toxic protein aggregation. Until now only few CMT2CC patients have been described...
  2. Yildiz O, Mao Z, Adams A, Dubuisson N, Allen Philbey K, Giovannoni G, et al. Disease activity in progressive multiple sclerosis can be effectively reduced by cladribine. Mult Scler Relat Disord. 2018;24:20-27 pubmed publisher
    ..fluid (CSF) provides a biomarker of neuro-axonal damage, and both neurofilament light (NfL) and heavy chain (NfH) levels have been used as outcome indices and to guide treatment choices...
  3. Yemni E, Monies D, Alkhairallah T, Bohlega S, Abouelhoda M, Magrashi A, et al. Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease. Sci Rep. 2019;9:3344 pubmed publisher
    ..Our combined molecular approach provides a comprehensive strategy applicable for complex genetic disorders. ..
  4. Gaetani L, Höglund K, Parnetti L, Pujol Calderon F, Becker B, Eusebi P, et al. A new enzyme-linked immunosorbent assay for neurofilament light in cerebrospinal fluid: analytical validation and clinical evaluation. Alzheimers Res Ther. 2018;10:8 pubmed publisher
    ..coefficient of variation (CV) < 13%), with no cross-reactivity with neurofilament medium and heavy (NfM and NfH)...
  5. Lei R, Lee J, Francis M, Kumar S. Structural Regulation of a Neurofilament-Inspired Intrinsically Disordered Protein Brush by Multisite Phosphorylation. Biochemistry. 2018;57:4019-4028 pubmed publisher
    ..For example, the intrinsically disordered C-terminal sidearm domain of the neurofilament heavy subunit (NFH-SA) forms a dense brush along axonal NF backbones and is subject to extensive serine phosphorylation...
  6. Picher Martel V, Renaud L, Bareil C, Julien J. Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with Ubiquitin. Mol Neurobiol. 2018;: pubmed publisher
    ..model, we have generated a new transgenic mouse expressing UBQLN2P497H under the neurofilament heavy (NFH) gene promoter...
  7. Hollborn M, Ulbricht E, Rillich K, Dukic Stefanovic S, Wurm A, Wagner L, et al. The human Müller cell line MIO-M1 expresses opsins. Mol Vis. 2011;17:2738-50 pubmed
    ..This suggests immortalized Müller cells could be used as a cellular source to produce human opsins for their potential application as therapeutic agents in patients with retinitis pigmentosa. ..
  8. Henry M, Luo S, Levinson S. Unmyelinated nerve fibers in the human dental pulp express markers for myelinated fibers and show sodium channel accumulations. BMC Neurosci. 2012;13:29 pubmed publisher
    ..we use the human dental pulp and confocal microscopy to examine the staining relationships of neurofilament heavy (NFH), a protein commonly expressed in myelinated afferents, with other markers to test the possibility that ..
  9. Wang J, Hidaka T, Sasaki Y, Tanaka E, Takagi M, Shibata T, et al. Neurofilament heavy polypeptide protects against reduction in synaptopodin expression and prevents podocyte detachment. Sci Rep. 2018;8:17157 pubmed publisher
    ..In this study, we identified that neurofilament heavy polypeptide (NEFH), an intermediate filament component, protects podocyte from injury...
  10. Zhang L, Gavin T, DeCaprio A, LoPachin R. Gamma-diketone axonopathy: analyses of cytoskeletal motors and highways in CNS myelinated axons. Toxicol Sci. 2010;117:180-9 pubmed publisher
    ..Although previous mechanistic research focused on neurofilament triplet proteins (NFL, NFM, NFH), other cytoskeletal targets are possible...
  11. Pujol Calderon F, Portelius E, Zetterberg H, Blennow K, Rosengren L, Höglund K. Neurofilament changes in serum and cerebrospinal fluid after acute ischemic stroke. Neurosci Lett. 2019;698:58-63 pubmed publisher
    ..Neurofilament heavy (NFH) belongs to the same family of structural proteins but it is less extensively studied...
  12. Lewis M, Nolan L, Cadge B, Matthews L, Schulte B, Dubno J, et al. Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. BMC Med Genomics. 2018;11:77 pubmed publisher
  13. Weng W, Lin K, Wu P, Lu Y, Weng Y, Wang B, et al. Calreticulin Regulates VEGF-A in Neuroblastoma Cells. Mol Neurobiol. 2015;52:758-70 pubmed publisher
    ..blockage of VEGFR-1 markedly suppressed the expression of neuron-specific markers including GAP43, NSE2, and NFH, as well as TrkA, a molecular marker indicative of NB cell differentiation...
  14. Yuan A, Sershen H, Veeranna -, Basavarajappa B, Kumar A, Hashim A, et al. Neurofilament subunits are integral components of synapses and modulate neurotransmission and behavior in vivo. Mol Psychiatry. 2015;20:986-94 pubmed publisher
    ..Completely eliminating NF proteins from brain by genetically deleting three subunits (α-internexin, NFH and NFL) markedly depresses hippocampal long-term potentiation induction without detectably altering synapse ..
  15. Zablotskaya A, Van Esch H, Verstrepen K, Froyen G, Vermeesch J. Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability. BMC Med Genomics. 2018;11:123 pubmed publisher
    ..This study demonstrates the power of single molecule sequencing to measure tandem repeat lengths and detect expansions, and suggests that tandem repeat mutations may be a hidden cause of X-linked intellectual disability. ..
  16. Revill K, Wang T, Lachenmayer A, Kojima K, Harrington A, Li J, et al. Genome-wide methylation analysis and epigenetic unmasking identify tumor suppressor genes in hepatocellular carcinoma. Gastroenterology. 2013;145:1424-35.e1-25 pubmed publisher
    ..We provide evidence that SMPD3 is a potent tumor suppressor gene that could affect tumor aggressiveness; a reduced level of SMPD3 is an independent prognostic factor for early recurrence of HCC. ..
  17. Dolan C, Yan M, Zimmel K, Yang T, Leininger E, Dawson L, et al. Axonal regrowth is impaired during digit tip regeneration in mice. Dev Biol. 2019;445:237-244 pubmed publisher
    ..Using immunohistochemistry for β-III-tubulin (β3T) or neurofilament H (NFH), substance P (SP), tyrosine hydroxylase (TH), myelin protein zero (P0), and glial fibrillary acidic ..
  18. Faissner S, Ambrosius B, Schanzmann K, Grewe B, Potthoff A, Münch J, et al. Cytoplasmic HIV-RNA in monocytes determines microglial activation and neuronal cell death in HIV-associated neurodegeneration. Exp Neurol. 2014;261:685-97 pubmed publisher
    ..fluid (CSF) of neuropsychologically asymptomatic HIV positive (HIV(+)) patients (n=45) were correlated with neurofilament H (NfH) as surrogate of neuronal/axonal degeneration...
  19. Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, et al. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol. 2015;262:1673-7 pubmed publisher
    ..This case highlights the difficulties and pitfalls of applying WES in patients with complex neurological diseases and serves as an instructive tale. ..
  20. Zhang T, Gu J, Wu L, Li N, Sun Y, Yu P, et al. Neuroprotective and axonal outgrowth-promoting effects of tetramethylpyrazine nitrone in chronic cerebral hypoperfusion rats and primary hippocampal neurons exposed to hypoxia. Neuropharmacology. 2017;118:137-147 pubmed publisher
    ..Bax and Caspase 3 expressions, and upregulated the phosphorylation levels of high-molecular weight neurofilament (p-NFH), Akt (p-Akt) and glycogen synthase kinase-3? (p-GSK3?) in hippocampus at 6th week after chronic hypoperfusion...
  21. Smerjac S, Zheng J, Hu C, Bizzozero O. The Role of Calpain and Proteasomes in the Degradation of Carbonylated Neuronal Cytoskeletal Proteins in Acute Experimental Autoimmune Encephalomyelitis. Neurochem Res. 2018;43:2277-2287 pubmed publisher effect on total protein carbonylation or cytoskeletal protein degradation but increases the amount of oxidized NFH and NFM...
  22. Veeranna -, Yang D, Lee J, Vinod K, Stavrides P, Amin N, et al. Declining phosphatases underlie aging-related hyperphosphorylation of neurofilaments. Neurobiol Aging. 2011;32:2016-29 pubmed publisher
    ..Purified PP2A or PP2B dephosphorylated the heavy neurofilament (NFH) subunit or its extensively phorphorylated carboxyl-terminal domain in vitro...
  23. Kang M, Law Davis S, Balaratnasingam C, Yu D. Sectoral variations in the distribution of axonal cytoskeleton proteins in the human optic nerve head. Exp Eye Res. 2014;128:141-50 pubmed publisher
    ..was studied using antibodies to neurofilament light (NFL), neurofilament medium (NFM), neurofilament heavy (NFH), phosphorylated NFH (NFHp), microtubule associated protein-1 (MAP-1) and tubulin...
  24. Lillevang Johannsen M, Grand J, Lembeck M, Giger A, Drozdowska J, Zajworoniuk Wlodarczyk J, et al. Falls in elderly patients are not treated according to national recommendations. Dan Med J. 2017;64: pubmed
    ..The study was conducted in the emergency departments (ED) of Slagelse Hospital (SH) and Nykøbing Falster Hospital (NFH), both located in Denmark...
  25. Zhang P, Tan C, Chen G, Ge Y, Xu J, Xia L, et al. Patients with chronic insomnia disorder have increased serum levels of neurofilaments, neuron-specific enolase and S100B: does organic brain damage exist?. Sleep Med. 2018;48:163-171 pubmed publisher
    The aims of this study were to investigate whether serum levels of neurofilaments heavy chain (NfH) and light chain (NfL), neuron-specific enolase (NSE) and S100 calcium binding protein B (S100B): (1) change, (2) alleviate in post-..
  26. McNulty S, Tort J, Rinaldi G, Fischer K, Rosa B, Smircich P, et al. Genomes of Fasciola hepatica from the Americas Reveal Colonization with Neorickettsia Endobacteria Related to the Agents of Potomac Horse and Human Sennetsu Fevers. PLoS Genet. 2017;13:e1006537 pubmed publisher
    ..hepatica Oregon assembly were joined to complete the 859,205 bp genome of a novel Neorickettsia endobacterium (nFh) closely related to the etiological agents of human Sennetsu and Potomac horse fevers...
  27. Hayashi T, Tanimoto K, Hirayama Yamada K, Tsuda E, Ayusawa M, Nunoda S, et al. Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. J Hum Genet. 2018;63:989-996 pubmed publisher
    ..identified in 80% of HCM patients with a family history and in 77% of HCM patients with no apparent family history (NFH)...
  28. Wang Y, Gao Z, Zhang Y, Feng S, Liu Y, Shields L, et al. Attenuated Reactive Gliosis and Enhanced Functional Recovery Following Spinal Cord Injury in Null Mutant Mice of Platelet-Activating Factor Receptor. Mol Neurobiol. 2016;53:3448-3461 pubmed publisher
    ..Intriguingly, compared to the wild-type SCI mice, less axonal retraction/dieback at 7 dpi but more NFH-labeled axons at 28 dpi was found in the area adjacent to the epicenter in PAFR null mutant SCI mice...
  29. Barrow J, Divecha H, Panchani S, Boden R, Porter M, Board T. Does oversizing an uncemented cup increase post-operative pain in primary total hip arthroplasty?. Eur J Orthop Surg Traumatol. 2019;29:97-102 pubmed publisher
    ..leaving 172 THA in the study group. The mean native femoral head (NFH) size was 47 mm. The most common implanted acetabular component size was 52 mm...
  30. Fadini G, Simoni F, Cappellari R, Vitturi N, Galasso S, Vigili de Kreutzenberg S, et al. Pro-inflammatory monocyte-macrophage polarization imbalance in human hypercholesterolemia and atherosclerosis. Atherosclerosis. 2014;237:805-8 pubmed publisher
    ..We herein analyzed monocyte subsets and MoMa phenotypes in familiar (FH, n = 22) and non-familiar (NFH, n = 20) hypercholesterolemic compared with normocholesterolemic (CTRL, n = 20) patients...
  31. McMeekin L, Lucas E, Meador Woodruff J, McCullumsmith R, Hendrickson R, Gamble K, et al. Cortical PGC-1α-Dependent Transcripts Are Reduced in Postmortem Tissue From Patients With Schizophrenia. Schizophr Bull. 2016;42:1009-17 pubmed publisher
  32. Tanaka N, Ashour D, DRATZ E, HALONEN S. Use of human induced pluripotent stem cell-derived neurons as a model for Cerebral Toxoplasmosis. Microbes Infect. 2016;18:496-504 pubmed publisher
    ..pure monolayer of induced human neuronal-like cells that stained positive for neuronal markers, MAP2, NFL, NFH and NeuN...
  33. Lucas E, Reid C, McMeekin L, Dougherty S, Floyd C, Cowell R. Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α. Front Cell Neurosci. 2014;8:441 pubmed publisher
    ..Together, these data highlight the complexity of PGC-1α's actions in the central nervous system and suggest that dysfunction in multiple cell types contribute to motor deficits in the context of PGC-1α deficiency. ..
  34. Heimfarth L, da Silva Ferreira F, Pierozan P, Loureiro S, Mingori M, Moreira J, et al. Calcium signaling mechanisms disrupt the cytoskeleton of primary astrocytes and neurons exposed to diphenylditelluride. Biochim Biophys Acta. 2016;1860:2510-2520 pubmed publisher
    ..hyperphosphorylation of glial fibrillary acidic protein (GFAP), vimentin and neurofilament subunits (NFL, NFM and NFH) from primary astrocytes and neurons, respectively...
  35. Deng Y, Han Q, Shen F, Chen M, Zeng H. [Effect of axonal developmental disorders in the corpus callosum on the neurological function after birth in septic neonatal rats]. Zhonghua Wei Zhong Bing Ji Jiu Yi Xue. 2016;28:683-7 pubmed publisher
    ..immunofluorescence staining and Western Blot were used to observe the expression of neurofilament heavy chain (NFH), neurofilament medium chain (NFM) and neurofilament light chain (NFL) in the corpus callosum...
  36. Makala H, Pothana L, Sonam S, Malla A, Goel S. Regeneration of Leydig cells in ectopically autografted adult mouse testes. Reproduction. 2015;149:259-68 pubmed publisher
    ..The success of this rodent model can have therapeutic applications for adult human males undergoing sterilizing cancer therapy. ..
  37. Hanlon K, Chadderton N, Palfi A, Blanco Fernandez A, Humphries P, Kenna P, et al. A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors. Front Neurosci. 2017;11:521 pubmed publisher
    ..Moreover, this promoter should in principle provide a more targeted and potentially safer alternative for RGC-directed gene therapies...
  38. Campos Melo D, Hawley Z, Strong M. Dysregulation of human NEFM and NEFH mRNA stability by ALS-linked miRNAs. Mol Brain. 2018;11:43 pubmed publisher
    ..The stoichiometry of NF protein subunits (NFL, NFM and NFH) has to be tightly controlled to avoid the formation of NF neuronal cytoplasmic inclusions (NCIs), axonal ..
  39. Hummon A, Pitt J, Camps J, Emons G, Skube S, Huppi K, et al. Systems-wide RNAi analysis of CASP8AP2/FLASH shows transcriptional deregulation of the replication-dependent histone genes and extensive effects on the transcriptome of colorectal cancer cells. Mol Cancer. 2012;11:1 pubmed publisher
    ..Finally, we identified and validated that CASP8AP2/FLASH LOF increases the expression of neurofilament heavy polypeptide (NEFH), a protein recently linked to regulation of the AKT1/ß-catenin pathway...
  40. Fujimura M, Usuki F. Methylmercury causes neuronal cell death through the suppression of the TrkA pathway: in vitro and in vivo effects of TrkA pathway activators. Toxicol Appl Pharmacol. 2015;282:259-66 pubmed publisher inhibition of neurite extension, as determined by ELISA analyses of the neurite-specific protein neurofilament triplet H protein (NF-H)...
  41. Schmitz F, Pierozan P, Biasibetti Brendler H, Ferreira F, dos Santos Petry F, Trindade V, et al. Methylphenidate disrupts cytoskeletal homeostasis and reduces membrane-associated lipid content in juvenile rat hippocampus. Metab Brain Dis. 2018;33:693-704 pubmed publisher
    ..neurofilament subunits (NF-M, NF-H) were hypophosphorylated by MPH on KSP repeat tail domains, while NFL, NFM and NFH immunocontents were not altered. MPH increased protein phosphatase 1 (PP1) and 2A (PP2A) immunocontents...
  42. Cabrera J, Charron A, Leib D. Neuronal Subtype Determines Herpes Simplex Virus 1 Latency-Associated-Transcript Promoter Activity during Latency. J Virol. 2018;92: pubmed publisher
    ..The neuronal subtype infected by HSV is therefore a critical determinant of the outcome of infection and latency. ..
  43. Lian T, Qu D, Zhao X, Yu L, Gao B. Identification of Site-Specific Stroke Biomarker Candidates by Laser Capture Microdissection and Labeled Reference Peptide. Int J Mol Sci. 2015;16:13427-41 pubmed publisher
    ..and ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1), and some insoluble proteins, including neurofilament heavy polypeptide (NEFH), glial fibrillary acidic protein (GFAP), microtubule-associated protein tau (MAPT) and tubulin ..
  44. Liu R, Liu Q, Wang K, Dang X, Zhang F. Comparative analysis of gene expression profiles in normal hip human cartilage and cartilage from patients with necrosis of the femoral head. Arthritis Res Ther. 2016;18:98 pubmed publisher
    The pathogenesis of necrosis of the femoral head (NFH) remains elusive. Limited studies were conducted to investigate the molecular mechanism of hip articular cartilage damage in NFH...
  45. Heimfarth L, da Silva Ferreira F, Pierozan P, Mingori M, Moreira J, da Rocha J, et al. Astrocyte-neuron interaction in diphenyl ditelluride toxicity directed to the cytoskeleton. Toxicology. 2017;379:1-11 pubmed publisher
    ..hypophosphorylation of glial fibrillary acidic protein (GFAP), vimentin and neurofilament subunits (NFL, NFM and NFH) and altered actin organization in co-cultured astrocytes and neurons from cerebral cortex of rats...
  46. Wu P, Wu H, Tang Y, Luo S, Fang X, Xie C, et al. Whole-exome sequencing reveals novel mutations and epigenetic regulation in hypopharyngeal carcinoma. Oncotarget. 2017;8:85326-85340 pubmed publisher
    ..They may become potential prognostic biomarkers and therapeutic target for hypopharyngeal carcinoma treatment...
  47. Athlan E, Mushynski W. Heterodimeric associations between neuronal intermediate filament proteins. J Biol Chem. 1997;272:31073-8 pubmed
    Formation of protein dimers involving alpha-internexin, peripherin, and the neurofilament (NF) proteins NFH, NFM, and NFL was investigated by partial renaturation of various combinations of individually purified subunits in buffered 2 M ..
  48. Sillitoe R. Mossy Fibers Terminate Directly Within Purkinje Cell Zones During Mouse Development. Cerebellum. 2016;15:14-17 pubmed publisher
    ..Purkinje cell zones formed a zebrin-like pattern that was defined by the expression of neurofilament heavy chain (NFH), a marker of zones in the postnatal developing cerebellum...
  49. Han Q, Lin Q, Huang P, Chen M, Hu X, Fu H, et al. Microglia-derived IL-1? contributes to axon development disorders and synaptic deficit through p38-MAPK signal pathway in septic neonatal rats. J Neuroinflammation. 2017;14:52 pubmed publisher
    ..The expression of neurofilament-68, neurofilament-160, and neurofilament-200 (NFL, NFM, NFH) and proteolipid (PLP) was markedly reduced in the CC at 7, 14, and 28 days after LPS administration...
  50. Guy J, Shaw G, Ross Cisneros F, Quiros P, Salomao S, Berezovsky A, et al. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol Vis. 2008;14:2443-50 pubmed
    ..Increases in pNF-H levels of carriers with increasing age, not seen in off-pedigree controls, may suggest subtle subclinical optic nerve degeneration. ..
  51. Lucas E, Dougherty S, McMeekin L, Reid C, Dobrunz L, West A, et al. PGC-1α provides a transcriptional framework for synchronous neurotransmitter release from parvalbumin-positive interneurons. J Neurosci. 2014;34:14375-87 pubmed publisher
    ..Collectively, these data demonstrate that PGC-1α is required for normal PV-positive interneuron function and that loss of PGC-1α in this interneuron subpopulation could contribute to cortical dysfunction in disease states. ..
  52. Heo S, Koh Y, Kim J, Jung J, Kim H, Yoon S, et al. Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia. BMC Med Genet. 2017;18:23 pubmed publisher
    ..Following validation, future studies to evaluate the usefulness of these genes in genetic testing for the early diagnosis and prognostic prediction of AML patients would be worthwhile. ..
  53. Lee S, Shang Y, Redmond S, Urisman A, Tang A, Li K, et al. Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis. Neuron. 2016;91:41-55 pubmed publisher
    ..These results reveal a previously unrecognized role of HIPK2 activation in ER-stress-mediated neurodegeneration and its potential role as a biomarker and therapeutic target for ALS. VIDEO ABSTRACT. ..
  54. Park M, Jang J, Song J, Lee H, Oh S. Neurofilament heavy chain expression and neuroplasticity in rat auditory cortex after unilateral and bilateral deafness. Hear Res. 2016;339:155-60 pubmed publisher
    ..Taken together, BD induced plastic changes in the auditory cortex, whereas UD did not affect the auditory neural system sufficiently to show plastic changes, as measured by neurofilament protein level. ..
  55. Pan B, Byrnes K, Schwartz M, Hansen C, Campbell C, Krupiczojc M, et al. Peripheral neuropathic changes in pachyonychia congenita. Pain. 2016;157:2843-2853 pubmed
    ..5), subsets of IENF (CGRP, substance P, tyrosine hydroxylase), myelinated nerve fiber (neurofilament H, NFH), blood vessels (CD31), Meissner corpuscles, and Merkel cells (MCs)...
  56. Tzekov R, Dawson C, Orlando M, Mouzon B, Reed J, Evans J, et al. Sub-Chronic Neuropathological and Biochemical Changes in Mouse Visual System after Repetitive Mild Traumatic Brain Injury. PLoS ONE. 2016;11:e0153608 pubmed publisher
    ..This will allow future identification of therapeutic targets for improving the visual consequences of r-mTBI. ..
  57. Pinacho R, Villalmanzo N, Meana J, Ferrer I, Berengueras A, Haro J, et al. Altered CSNK1E, FABP4 and NEFH protein levels in the dorsolateral prefrontal cortex in schizophrenia. Schizophr Res. 2016;177:88-97 pubmed publisher
    ..further validation: casein kinase I isoform epsilon (CSNK1E), fatty acid-binding protein 4 (FABP4), neurofilament triplet H protein (NEFH), and retinal dehydrogenase 1 (ALDH1A1)...
  58. Yuan A, Nixon R. Specialized roles of neurofilament proteins in synapses: Relevance to neuropsychiatric disorders. Brain Res Bull. 2016;126:334-346 pubmed publisher
    ..are uniquely complex among classes of intermediate filaments in being composed of four subunits (NFL, NFM, NFH and alpha-internexin in the CNS) that differ in structure, regulation, and function...
  59. Rodriguez Purata J, Gingold J, Lee J, Whitehouse M, Slifkin R, Briton Jones C, et al. Hatching status before embryo transfer is not correlated with implantation rate in chromosomally screened blastocysts. Hum Reprod. 2016;31:2458-2470 pubmed
    ..reproductive outcomes from the transfer of fully hatched (FH) blastocysts differ from those of not fully hatched (NFH) blastocysts? Biochemical pregnancy rate (BPR), implantation rate (IR), live birth rate (LBR) and early pregnancy ..
  60. van Vlodrop I, Joosten S, De Meyer T, Smits K, Van Neste L, Melotte V, et al. A Four-Gene Promoter Methylation Marker Panel Consisting of GREM1, NEURL, LAD1, and NEFH Predicts Survival of Clear Cell Renal Cell Cancer Patients. Clin Cancer Res. 2017;23:2006-2018 pubmed publisher
    ..i>Clin Cancer Res; 23(8); 2006-18. ©2016 AACR. ..
  61. Vernerey D, Anota A, Vandel P, Paget Bailly S, Dion M, Bailly V, et al. Development and validation of the FRAGIRE tool for assessment an older person's risk for frailty. BMC Geriatr. 2016;16:187 pubmed
    ..were classified into financially-helped group (FH, with financial assistance) and non-financially helped group (NFH, without any financial assistance), considering FH subjects are more frail than the NFH group and thus representing ..
  62. Thoa N, Hamzah A, Nguyen N. Genetic variation and correlated changes in reproductive performance of a red tilapia line selected for improved growth over three generations. Anim Reprod Sci. 2017;184:94-101 pubmed publisher
    ..of 111 sires and 118 dams) had measurements of body weight prior to spawning (WBS), number of fry at hatching (NFH), total fry weight (TFW) and number of dead fry (NDF) or mortality of fry including unhatched eggs at hatching (MFH)..
  63. Reis K, Heimfarth L, Pierozan P, Ferreira F, Loureiro S, Fernandes C, et al. High postnatal susceptibility of hippocampal cytoskeleton in response to ethanol exposure during pregnancy and lactation. Alcohol. 2015;49:665-74 pubmed publisher
    ..acidic protein (GFAP), and neurofilament (NF) subunits of low, medium, and high molecular weight (NFL, NFM, and NFH, respectively) in 9- and 21-day-old pups...
  64. Sindi R, Harris W, Arnott G, Flaskos J, Lloyd Mills C, Hargreaves A. Chlorpyrifos- and chlorpyrifos oxon-induced neurite retraction in pre-differentiated N2a cells is associated with transient hyperphosphorylation of neurofilament heavy chain and ERK 1/2. Toxicol Appl Pharmacol. 2016;308:20-31 pubmed publisher treated cells stained by indirect immunofluorescence with anti-phosphorylated neurofilament heavy chain (NFH) monoclonal antibody SMI34, while the microtubule network was unaffected...
  65. Spiller K, Restrepo C, Khan T, Stieber A, Kwong L, Trojanowski J, et al. Progression of motor neuron disease is accelerated and the ability to recover is compromised with advanced age in rNLS8 mice. Acta Neuropathol Commun. 2016;4:105 pubmed
    ..We believe that these studies will be an important basis for the future design and evaluation of therapies designed to slow denervation and promote re-innervation in adult ALS patients. ..
  66. Liu X, Ou S, Yin M, Xu T, Wang T, Liu Y, et al. N-methyl-D-aspartate receptors mediate epilepsy-induced axonal impairment and tau phosphorylation via activating glycogen synthase kinase-3? and cyclin-dependent kinase 5. Discov Med. 2017;23:221-234 pubmed
    ..We demonstrated that axonal impairment is characterized by neurofilament heavy (NFH) reduction, amyloid precursor protein (APP) accumulation, and increased tau phosphorylation accompanied by a ..
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    ..the surface of the neuroblastoma cells, and antibodies to the 200 kDa high molecular weight neurofilament protein (NFH) immunostained the cytoplasm and cell processes...
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    ..In addition, we also identified a point mutation in one individual which would result in a Pro-->Leu substitution in one of the repeat motifs. ..
  69. Skvortsova V, Limborskaia S, Slominskii P, Brusov O, Karakhan V, Gerasimova M, et al. [Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development]. Zh Nevrol Psikhiatr Im S S Korsakova. 2003;103:38-44 pubmed
    ..02). These findings specify the role of NF-H with lower molecular weight in MND pathogenesis and make expedient antioxidants administration to MND patients homozygous for S-allele of NF-H gene. ..
  70. Garcia M, Lobsiger C, Shah S, Deerinck T, Crum J, Young D, et al. NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. J Cell Biol. 2003;163:1011-20 pubmed
    ..This has revealed that the tail domain of NF-M, with seven KSP motifs, is an essential target for the myelination-dependent outside-in signaling cascade that determines axonal caliber and conduction velocity of motor axons. ..
  71. Lewis S, Wolper R, Miralia L, Yang C, Shaw G. Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients. J Cereb Blood Flow Metab. 2008;28:1261-71 pubmed publisher
    ..We conclude that the analysis of pNF-H levels in blood and CSF differentiates between patients with poor and favorable outcomes and also reveals several novel features of ASAH progression and recovery. ..
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    ..273, P = 0.011). NF heavy and light chain levels have potential use as a marker of neural degeneration in ALS, but are not specific for the disease, and are more likely to be used as measures of disease progression. ..
  74. Watson C, Gaunt L, Evans G, Patel K, Harris R, Strachan T. A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Hum Mol Genet. 1993;2:701-4 pubmed
    ..The deletion should provide a useful mapping resource for characterising the chromosomal region containing the NF2 locus. ..
  75. Rouleau G, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature. 1993;363:515-21 pubmed
    ..Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans. ..
  76. Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, et al. PKN associates and phosphorylates the head-rod domain of neurofilament protein. J Biol Chem. 1996;271:9816-22 pubmed
    ..The identification and characterization of the novel interaction with PKN may contribute toward the elucidation of mechanisms regulating the function of neurofilament. ..
  77. Tomkins J, Usher P, Slade J, Ince P, Curtis A, Bushby K, et al. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport. 1998;9:3967-70 pubmed
    ..Although neurofilament mutations are only associated with a very small proportion of ALS cases, this insertion provides further support of a role for neurofilaments in the pathogenesis of ALS. ..
  78. Sihag R, Inagaki M, Yamaguchi T, Shea T, Pant H. Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments. Exp Cell Res. 2007;313:2098-109 pubmed
    ..The role of IF phosphorylation in disease pathobiology is discussed. ..
  79. Kesavapany S, Patel V, Zheng Y, Pareek T, Bjelogrlic M, Albers W, et al. Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons. Mol Biol Cell. 2007;18:3645-55 pubmed
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    ..Replacing all L-tails by alpha-projections destroys the substructure of the NF corona and this alters the NF response to the phosphorylation of long tails. ..
  81. Rudrabhatla P, Jaffe H, Pant H. Direct evidence of phosphorylated neuronal intermediate filament proteins in neurofibrillary tangles (NFTs): phosphoproteomics of Alzheimer's NFTs. FASEB J. 2011;25:3896-905 pubmed publisher
    ..In corresponding matched control preparations of PHF/NFTs, none of these phosphorylated neuronal cytoskeletal proteins were found. These studies independently demonstrate that NF proteins are an integral part of NFTs in AD brains. ..
  82. Ahadi R, Khodagholi F, Daneshi A, Vafaei A, Mafi A, Jorjani M. Diagnostic Value of Serum Levels of GFAP, pNF-H, and NSE Compared With Clinical Findings in Severity Assessment of Human Traumatic Spinal Cord Injury. Spine (Phila Pa 1976). 2015;40:E823-30 pubmed publisher
    ..2. ..
  83. Oeckl P, Jardel C, Salachas F, Lamari F, Andersen P, Bowser R, et al. Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17:404-13 pubmed publisher
    ..4%). Values in ALS patients are already comparable between most centers, supporting eventual implementation into clinical routine. However, continuous quality control programs will be necessary for inclusion in the diagnostic work-up. ..
  84. Poesen K, De Schaepdryver M, Stubendorff B, Gille B, Muckova P, Wendler S, et al. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease. Neurology. 2017;88:2302-2309 pubmed publisher
    ..Both pNfH and NfL correlated with the extent of motor neuron degeneration. This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS. ..
  85. Liu M, Xu P, Guan Z, Qian X, Dockery P, FitzGerald U, et al. Ulk4 deficiency leads to hypomyelination in mice. Glia. 2018;66:175-190 pubmed publisher
    ..This is the first evidence demonstrating that ULK4 is a crucial regulator of myelination, and ULK4 may therefore become a novel therapeutic target for hypomyelination diseases. ..
  86. Strong M, Strong W, Jaffe H, Traggert B, Sopper M, Pant H. Phosphorylation state of the native high-molecular-weight neurofilament subunit protein from cervical spinal cord in sporadic amyotrophic lateral sclerosis. J Neurochem. 2001;76:1315-25 pubmed
    The intraneuronal aggregation of phosphorylated high-molecular-weight neurofilament protein (NFH) in spinal cord motor neurons is considered to be a key pathological marker of amyotrophic lateral sclerosis (ALS)...
  87. Bhaskar K, Shareef M, Sharma V, Shetty A, Ramamohan Y, Pant H, et al. Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins. Neurochem Int. 2004;44:35-44 pubmed
  88. Pijnenburg Y, Janssen J, Schoonenboom N, Petzold A, Mulder C, Stigbrand T, et al. CSF neurofilaments in frontotemporal dementia compared with early onset Alzheimer's disease and controls. Dement Geriatr Cogn Disord. 2007;23:225-30 pubmed
    ..CSF levels of light chain, heavy chain and hyperphosphorylated heavy chain neurofilaments (NfL, t-NfH and P-NfH) were compared between 17 subjects with FTD, 20 with EAD and 25 cognitively healthy controls...
  89. Neselius S, Zetterberg H, Blennow K, Marcusson J, Brisby H. Increased CSF levels of phosphorylated neurofilament heavy protein following bout in amateur boxers. PLoS ONE. 2013;8:e81249 pubmed publisher
    ..Possession of the APOE ?4 allele was not found to influence biomarker levels after acute TBI. ..
  90. Li S, Ren Y, Zhu W, Yang F, Zhang X, Huang X. Phosphorylated neurofilament heavy chain levels in paired plasma and CSF of amyotrophic lateral sclerosis. J Neurol Sci. 2016;367:269-74 pubmed publisher
    ..869; p<0.001) pNF-H levels and TTG. The correlation of plasma and CSF pNF-H levels would bring insight into the pathogenesis of ALS. TTG might play an important role in the future study of ALS, as an early indicator of survival. ..
  91. Hou N, Wen Y, Yuan X, Xu H, Wang X, Li F, et al. Activation of Yap1/Taz signaling in ischemic heart disease and dilated cardiomyopathy. Exp Mol Pathol. 2017;103:267-275 pubmed publisher
    ..Taz, and Tead1 were significantly increased in failing human and DES hearts compared with the non-failing controls (NFH) or wild type (WT) mouse hearts at both mRNA and protein levels...
  92. Rudrabhatla P, Zheng Y, Amin N, Kesavapany S, Albers W, Pant H. Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein. J Biol Chem. 2008;283:26737-47 pubmed publisher
    ..Thus, Pin1 may be a potential therapeutic target for these diseases. ..