Genomes and Genes
Gene Symbol: Nefl
Description: neurofilament, light polypeptide
Alias: AI847934, CMT2E, NF-L, NF68, Nfl, neurofilament light polypeptide, 68 kDa neurofilament protein, neurofilament protein L, neurofilament triplet L protein
Publications120 found, 100 shown here
- Involvement of Wnt-1 in the formation of the mes/metencephalic boundaryL Bally-Cuif
INSERM U106, Hopital de la Salpetriere, Paris, France
Mech Dev 53:23-34. 1995....
- Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapsesD Wolpowitz
Columbia University, College of Physicians and Surgeons, Program in Neurobiology and Behavior, New York, New York 10032, USA
Neuron 25:79-91. 2000....
- 3' untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cellsHong Lin
Division of Neuropathology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA
J Neurosci 24:2716-26. 2004....
- Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glandsM Tanaka
Cardiovascular Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA
Dev Dyn 219:248-60. 2000..However, we did not observe prostate cancer in homozygous mutant mice up to 2 years of age. Therefore, involvement of NKX3.1 in carcinogenesis in men needs to be carefully determined by further investigation...
- Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1M D Nguyen
Centre for Research in Neurosciences, McGill University, The Montreal General Hospital Research Institute, Montreal, PQ H3G 1A4, Canada
Proc Natl Acad Sci U S A 97:12306-11. 2000..These results do not support the current view that high NF content and large caliber of axons may account for the selective vulnerability of motor neurons in ALS caused by mutant SOD1...
- Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted miceA Khalyfa
Bloomfield Center for Research in Aging, Lady Davis Institute for Medical Research, The Sir Mortimer B Davis Jewish General Hospital, McGill University, Montreal, Quebec H3T 1E2, Canada
J Biol Chem 276:22915-22. 2001....
- Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolismM Dubois
Faculte des Sciences, UPRES PSY CO EA 1780, Universite de Rouen, Mont Saint Aignan, France
J Neurosci Res 80:741-50. 2005..Depletion of the Nefl gene in mice mimicks the reduced NFL mRNA levels seen in amyotrophic lateral sclerosis and causes perikaryal ..
- Notch 1 inhibits photoreceptor production in the developing mammalian retinaAshutosh P Jadhav
Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Development 133:913-23. 2006..These cone enriched mutant mice should prove to be a valuable resource for the study of this relatively rare mammalian photoreceptor cell type...
- Anomalous placement of introns in a member of the intermediate filament multigene family: an evolutionary conundrumS A Lewis
Mol Cell Biol 6:1529-34. 1986....
- A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron diseaseM K Lee
Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Neuron 13:975-88. 1994..Thus, neurofilament mutations can cause selective motor neuron death, and neurofilamentous abnormalities may be a common toxic intermediate that significantly contributes to the motor neuron death in human disease...
- Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron diseaseZ Xu
Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Cell 73:23-33. 1993..These data indicate that extensive accumulation of neurofilaments in motor neurons can trigger the neurodegenerative process...
- Delayed maturation of regenerating myelinated axons in mice lacking neurofilamentsQ Zhu
Centre for Research in Neuroscience, McGill University, Montreal General Hospital Research Institute, Quebec, Canada
Exp Neurol 148:299-316. 1997..These results provide the first direct evidence for a role of neurofilaments in the maturation of regenerating myelinated axons...
- Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutantT L Williamson
Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 95:9631-6. 1998....
- Cytoskeletal abnormalities in amyotrophic lateral sclerosis: beneficial or detrimental effects?J P Julien
Centre for Research in Neurosciences, McGill University, The Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada
J Neurol Sci 180:7-14. 2000..These results together with the detection of peripherin inclusions at early stage of disease in mice expressing mutant SOD1 suggest that IF inclusions containing peripherin may play a contributory role in ALS pathogenesis...
- Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusionsM D Nguyen
Centre for Research in Neurosciences, McGill University, Research Institute of the McGill University, Health Centre, H3G 1A4, Montreal, Quebec, Canada
Neuron 30:135-47. 2001....
- Development of chromaffin cells depends on MASH1 functionKatrin Huber
Neuroanatomy, Interdisciplinary Center for Neurosciences IZN, University of Heidelberg, INF 307, D 69120 Heidelberg, Germany
Development 129:4729-38. 2002..Together, these findings suggest that the development of chromaffin cells does depend on MASH1 function not only for catecholaminergic differentiation but also for general chromaffin cell differentiation...
- Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament densityMala V Rao
Center for Dementia Research, Nathan Kline Institute, NYU School of Medicine, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA
J Cell Biol 159:279-90. 2002....
- Neurofilament transport in vivo minimally requires hetero-oligomer formationAidong Yuan
Center for Dementia Research, Nathan Kline Institute, New York University School of Medicine, Orangeburg, New York 10962, USA
J Neurosci 23:9452-8. 2003..They also show that NF-M can partner with intermediate filament proteins other than the NF-H and NF-L subunits in neurons to support slow transport and possibly other functions of neuronal intermediate filaments...
- Late onset of motor neurons in mice overexpressing wild-type peripherinJ M Beaulieu
Centre for Research in Neurosciences, McGill University, The Montréal General Hsopital Research Institute, Montreal, Quebec, H3G 1A4, Canada
J Cell Biol 147:531-44. 1999..Taken together, these results suggest that IF inclusions containing peripherin may play a contributory role in motor neuron disease...
- The role of Phox2B in chromaffin cell developmentKatrin Huber
Neuroanatomy, Interdisciplinary Center for Neurosciences, University of Heidelberg, INF 307, D 69120 Heidelberg, Germany
Dev Biol 279:501-8. 2005..5. We conclude that Phox2B regulates very early events in the differentiation of adrenal chromaffin cells distinct to steps, which essentially require MASH-1...
- Lack of an adrenal cortex in Sf1 mutant mice is compatible with the generation and differentiation of chromaffin cellsPhilipp Gut
Neuroanatomy and Interdisciplinary Center for Neurosciences IZN of Heidelberg, INF 307, D 69120 Heidelberg, Germany
Development 132:4611-9. 2005..Our results suggest that cortical cues are not essential for determining chromaffin cell fate, but may be required for proper migration of SA progenitors to and/or colonization of the adrenal anlage...
- Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNSAidong Yuan
Center for Dementia Research, Nathan Kline Institute, Orangeburg, New York 10962, USA
J Neurosci 26:10006-19. 2006....
- Conditional NF-L transgene expression in mice for in vivo analysis of turnover and transport rate of neurofilamentsStephanie Millecamps
Centre de Recherche du Centre Hospitalier de l Universite Laval, Department of Anatomy and Physiology of Laval University, Quebec, Canada
J Neurosci 27:4947-56. 2007..These results provide in vivo evidence that the stationary NF network in axons is a key determinant of half-life and transport rate of NF proteins...
- Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunitsP H Tu
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104 4283, USA
J Cell Biol 129:1629-40. 1995..and peripheral nervous system (PNS) neurons, are heteropolymers formed from the high (NFH), middle (NFM), and low (NFL) molecular weight NF subunits...
- Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion proteinJ Eyer
Department of Neurology and Neurosurgery, McGill University, Royal Victoria Hospital, Montreal, Quebec, Canada
Neuron 12:389-405. 1994..We conclude that an organized neurofilament cytoskeleton is required by axons to achieve large calibers but is not essential for neuronal function or extended survival...
- Structural requirement of TAG-1 for retinal ganglion cell axons and myelin in the mouse optic nerveElli Chatzopoulou
Institut National de la Sante et de la Recherche Medicale, Unité 711, Universite Pierre et Marie Curie, Faculte de Medecine, Hopital de la Salpetriere, Institut Fédératif de Recherche 70, F 75013 Paris, France
J Neurosci 28:7624-36. 2008..Therefore, TAG-1 is an essential regulator of the structure of RGC axons and their surrounding glial cells in the optic nerve...
- Structure and evolutionary origin of the gene encoding mouse NF-M, the middle-molecular-mass neurofilament proteinE Levy
Eur J Biochem 166:71-7. 1987..Consistent with this notion, we show that the genes encoding NF-M and NF-L are linked...
- Severe neuronal losses with age in the parietal cortex and ventrobasal thalamus of mice transgenic for the human NF-L neurofilament proteinD Ma
Département de pathologie et biologie cellulaire and Centre de recherche en sciences neurologiques, Universite de Montreal, Quebec, Canada
J Comp Neurol 406:433-48. 1999..Furthermore, strong accumulation of lipofuscin in the neurons of aged transgenic mice suggested that oxidative stress partakes in the mechanisms through which NF-L overproduction compromises neuronal viability...
- Cloning and developmental expression of the murine neurofilament gene familyJ P Julien
Brain Res 387:243-50. 1986..The NF-L and NF-M mRNAs are detected early in the embryonal brain, with a progressive increase in their levels during development, while the NF-H mRNA is barely detectable at embryonal stages and accumulates later in the postnatal brain...
- Localization of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probeM J Somerville
Department of Physiology, University of Toronto, Ont, Canada
Genome 30:499-500. 1988A recent investigation, using a human genomic probe, has indicated that the 68,000 dalton neurofilament gene (NF68) is on the short arm of chromosome 8...
- Expanding roles for alpha 4 integrin and its ligands in developmentA M Sheppard
Department of Medicine, Washington University School of Medicine, St Louis, MO 63110
Cell Adhes Commun 2:27-43. 1994..Finally, based on their patterns of expression, we conclude that VCAM-1 only participates in a subset of interactions involving alpha 4 integrins, whereas FN appears to be the more general ligand...
- Stage-specific expression of alkaline phosphatase during neural development in the mouseS Narisawa
La Jolla Cancer Research Foundation, Cancer Research Center, California 92037
Dev Dyn 201:227-35. 1994..We conclude that AP is a useful marker of a subpopulation of neuroectodermal cells present in the neural tube as early as E8.5, at which stages there are no other AP positive intraembryonic cells except PGCs...
- The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14L L Peters
Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Genomics 26:634-5. 1995
- Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissuesC I Brannan
Mammalian Genetics Laboratory, Frederick Cancer Research and Development Center, Maryland 21702 1201
Genes Dev 8:1019-29. 1994..These results identify new roles for NF1 in development and indicate that some of the abnormal growth phenomena observed in NF1 patients can be recapitulated in neurofibromin-deficient mice...
- Early upregulation of medium neurofilament gene expression in developing spinal cord of the wobbler mouse mutantR Pernas-Alonso
International Institute of Genetics and Biophysics, C N R, Naples, Italy
Brain Res Mol Brain Res 38:267-75. 1996..Our study provides novel insights into the nature of the wobbler defect, strengthening the hypothesis that neurofilament accumulation plays a pivotal role in the etiopathogenesis of motoneuron degeneration...
- Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous systemM P Matise
Developmental Genetics Program and Howard Hughes Medical Institute, and Department of Cell Biology and Physiology and Neuroscience, NYU Medical Center, New York, NY 10016, USA
Development 125:2759-70. 1998....
- LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neuronsK Sharma
Gene Expression Laboratory, The Salk Institute, La Jolla, California 92037, USA
Cell 95:817-28. 1998..Thus, Lhx3 and Lhx4 act in a binary fashion during a brief period in development to specify the trajectory of motor axons from the neural tube...
- Spatial and temporal changes in chondroitin sulfate distribution in the sclerotome play an essential role in the formation of migration patterns of mouse neural crest cellsY Kubota
Department of Biology, Graduate School of Science, Osaka University, Japan
Dev Dyn 214:55-65. 1999..We conclude that systematic spatiotemporal changes in the distribution of chondroitin sulfate proteoglycans are a key requisite for the formation of migration patterns of mouse neural crest cells in the sclerotome...
- Otx1 and Otx2 activities are required for the normal development of the mouse inner earH Morsli
National Institute on Deafness and Other Communication Disorders, Rockville, MD 20850, USA
Development 126:2335-43. 1999..These results suggest that both Otx genes play important and differing roles in the morphogenesis of the mouse inner ear and the development of its sensory organs...
- The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retinaD Baas
Department of Ophthalmology and Visual Science, Yale School of Medicine, 330 Cedar Street, New Haven, CT 06520, USA
Brain Res Mol Brain Res 78:26-37. 2000....
- Regionalized neurofilament accumulation and motoneuron degeneration are linked phenotypes in wobbler neuromuscular diseaseR Pernas-Alonso
International Institute of Genetics and Biophysics, CNR, Naples, Italy
Neurobiol Dis 8:581-9. 2001..Altogether our data indicate that NF hyperexpression and regionalized motoneuron degeneration are linked to the wr mutation, although with a still unknown relationship to the mutant gene activity...
- The nNOS inhibitor, AR-R17477AR, prevents the loss of NF68 immunoreactivity induced by methamphetamine in the mouse striatumVeronica Sanchez
Departamento de Farmacologia and Facultad de Medicina Instituto de Bioquimica CSIC UCM, Facultad de Farmacia, Universidad Complutense, Madrid, Spain
J Neurochem 85:515-24. 2003..present study examined the time-course and regionally-selective changes in the levels of the neurofilament protein NF68 in the mouse brain induced by methamphetamine (METH)...
- Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutaseRoxanne C Lariviere
Centre for Research in Neuroscience, Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec H3G 1A4, Canada
Neurobiol Dis 13:158-66. 2003..These results provide compelling evidence that peripherin is not a key contributor of motor neuron degeneration associated with toxicity of mutant SOD1...
- Fine localization of Nefl and Nef3 and its exclusion as candidate gene for lens rupture 2(lr2)Sang Dal Rhee
Korea Research Institute of Chemical Technology, Yusong gu, Taejon
Exp Anim 53:295-301. 2004..Components of neurofilament proteins, neurofilament light polypeptide (Nefl) and neurofilament3 medium (Nef3), were linked to D14Mit87 which was not separated from the lr2 ..
- Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHHJulian Morcillo
Departamento de Neurobiologia del Desarrollo, Instituto Cajal, CSIC, Dr Arce 37, Madrid 28002, Spain
Development 133:3179-90. 2006..Collectively, these data indicate that BMP7 is required for retinal fissure formation and that its activity is needed, before SHH signalling, for the generation of PAX2-positive cells at the optic disc...
- Retrolinkin, a membrane protein, plays an important role in retrograde axonal transportJia Jia Liu
Department of Neurology, Stanford University School of Medicine, Stanford, CA 94305, USA
Proc Natl Acad Sci U S A 104:2223-8. 2007..Our work lays the foundation for understanding fundamental issues of axonal transport and provides insights into the molecular mechanisms underlying human neurodegenerative disorders...
- Genetically-directed, cell type-specific sparse labeling for the analysis of neuronal morphologyThomas Rotolo
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
PLoS ONE 3:e4099. 2008....
- Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL-/- mice: support for a role for TDP-43 in the physiological response to neuronal injuryKatie Moisse
Molecular Brain Research Group, Robarts Research Institute, PO Box 5015, 100 Perth Drive, London ON, Canada
Brain Res 1296:176-86. 2009..in two different presymptomatic models of motor neuron degeneration, low molecular weight neurofilament knockout (NFL(-/-)) mice and mutant SOD1(G93A) transgenic (mtSOD1(G93A)) mice aged 6 weeks, and observed TDP-43 and PGRN ..
- The oligodendrocyte-specific G protein-coupled receptor GPR17 is a cell-intrinsic timer of myelinationYing Chen
Department of Developmental Biology and Kent Waldrep Foundation Center for Basic Neuroscience Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Nat Neurosci 12:1398-406. 2009....
- The myosin Va head domain binds to the neurofilament-L rod and modulates endoplasmic reticulum (ER) content and distribution within axonsMala V Rao
Nathan Kline Institute, New York University School of Medicine, Orangeburg, New York, United States of America
PLoS ONE 6:e17087. 2011..Based on observations that the Myo Va motor domain binds to intermediate filament (IF) proteins of several classes, Myo Va interactions with IFs may serve similar roles in organizing organelle topography in different cell types...
- The transcription factors AP-2β and AP-2α are required for survival of sympathetic progenitors and differentiated sympathetic neuronsMirko Schmidt
Research Group Developmental Neurobiology, Max Planck Institute for Brain Research, Deutschordenstrasse 46, Frankfurt M, Germany
Dev Biol 355:89-100. 2011..Whereas AP-2α/β transcription factors are in vivo not required for the onset or maintenance of noradrenergic differentiation, their essential survival functions are demonstrated for sympathetic progenitors and noradrenergic neurons...
- NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neuronsKazumasa Yokoyama
Division of Oncology, Department of Cancer Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan
EMBO J 30:4739-54. 2011..In conclusion, the NYAPs activate PI3K and concomitantly recruit the downstream effector WAVE complex to the close vicinity of PI3K and regulate neuronal morphogenesis...
- Auditory ganglion source of Sonic hedgehog regulates timing of cell cycle exit and differentiation of mammalian cochlear hair cellsJinwoong Bok
Department of Anatomy, Department of Otorhinolaryngology, BK21 Project for Medical Science, Yonsei University College of Medicine, Seoul 120 752, Korea
Proc Natl Acad Sci U S A 110:13869-74. 2013....
- Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormalityTzyy Nan Huang
1 Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan 2
Nat Neurosci 17:240-7. 2014..Our study suggests that TBR1 is important in the regulation of amygdalar axonal connections and cognition. ..
- Adrenal Development in Mice Requires GATA4 and GATA6 Transcription FactorsSergei G Tevosian
Department of Physiological Sciences S G T, E J, H M H, T J, S C F, M B P, College of Veterinary Medicine, University of Florida, Gainesville, Florida 32610 0144 and Department of Applied Physiology and Kinesiology D A M, College of Health and Human Performance, University of Florida, Gainesville, Florida 32611 8200
Endocrinology 156:2503-17. 2015..Our results reveal a requirement for GATA factors in adrenal development and provide a novel tool to characterize the transcriptional network controlling adrenocortical cell fates. ..
- Neuropilin-2/Semaphorin-3F-mediated repulsion promotes inner hair cell innervation by spiral ganglion neuronsThomas M Coate
Laboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, Bethesda, United States
elife 4:. 2015..These results suggest a model in which cochlear innervation patterns by type I SGNs are determined, at least in part, through a Semaphorin-3F-mediated inhibitory signal that impedes processes from extending beyond the IHC region. ..
- Cbx4 maintains the epithelial lineage identity and cell proliferation in the developing stratified epitheliumAndrei N Mardaryev
Centre for Skin Sciences, School of Life Sciences, University of Bradford, Yorkshire BD7 1DP, England, UK
J Cell Biol 212:77-89. 2016....
- Interaction of multiple nuclear proteins with the promoter region of the mouse 68-kDa neurofilament geneT R Ivanov
Department of Zoology, University of Toronto, West Hill, Ontario, Canada
J Neurosci Res 32:149-58. 1992..A prominent footprint was also detected at a sequence that contains a near-perfect palindrome centered at a PstI restriction site...
- Intragenic regulatory elements contribute to transcriptional control of the neurofilament light geneL Beaudet
Montreal General Hospital Research Institute, Quebec, Canada
Gene 116:205-14. 1992..We propose that the acquisition of introns by an ancestral intronless IF gene may have contributed to the emergence of a lineage of IF genes expressed in the nervous system...
- NCAM in the organ of Corti of the developing mouseD S Whitlon
Department of Neurology, University of Wisconsin, Madison
J Neurocytol 19:970-7. 1990..NCAM is also present along the growth path of the nerve fibres. These studies suggest that NCAM is properly positioned in the cochlea for possible roles in axon guidance and nerve-target interactions...
- Axonal atrophy in aging is associated with a decline in neurofilament gene expressionI M Parhad
Department of Pathology, University of Calgary, Alberta, Canada
J Neurosci Res 41:355-66. 1995..Although the mechanisms leading to the decrease in Nf gene expression with aging are not known, a decrease in the availability of growth factors, or the neuron's ability to respond to them, may play a role in this process...
- Deletion of 3'-untranslated region alters the level of mRNA expression of a neurofilament light subunit transgeneM L Schwartz
Division of Neuropathology, University of Pennsylvania Medical School, Philadelphia 19104 6079, USA
J Biol Chem 270:26364-9. 1995..The findings support the working hypothesis that the 3'-UTR contains determinants that alter stability and that stabilization of NF-L mRNA regulates the levels of NF-L mRNA in neuronal tissues and cells...
- CNS distribution and overexpression of neurofilament light proteins (NF-L) in mice transgenic for the human NF-L: aberrant accumulation in thalamic perikaryaJ F Mathieu
Departement de Pathologie, Faculte de Medecine, Universite de Montreal, Quebec, Canada
Exp Neurol 132:134-46. 1995..It was compatible with prolonged survival of the animal and could provide a new experimental model of neurodegenerative disease...
- Changes of the expression and distribution of retinoic acid receptors during neurogenesis in mouse embryosT Yamagata
Department of Pediatrics, Jichi Medical School, Tochigi, Japan
Brain Res Dev Brain Res 77:163-76. 1994..The distribution of RAR-alpha- or -beta-positive cells were consistent with the neurogenesis during development in the spinal cord and brain...
- Mouse chromosomal location of the CCAAT/enhancer binding proteins C/EBP beta (Cebpb), C/EBP delta (Cebpd), and CRP1 (Cebpe)N A Jenkins
ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
Genomics 28:333-6. 1995..Here, we show that Cebpb maps to mouse chromosome 2, Cebpd to chromosome 16, and Cebpe to chromosome 14. The assignment of Cebpd to chromosome 16 identifies a new region of homology between mouse chromosome 16 and human chromosome 8...
- Okadaic acid suppresses neural differentiation-dependent expression of the neurofilament-L gene in P19 embryonal carcinoma cells by post-transcriptional modificationY Sasahara
Department of Biochemistry, Institute of Development, Aging and Cancer, Tohoku University, Sendai 980, Japan
J Biol Chem 271:25950-7. 1996....
- Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cellsC W Lo
Biology Department, University of Pennsylvania, Philadelphia, USA
Dev Genet 20:119-32. 1997..1995], a region of the heart in which neural crest cells are required for normal development...
- A novel cdc2-related protein kinase expressed in the nervous systemM A Lazzaro
Centre for Research in Neuroscience, McGill University and Montreal General Hospital Research Institute, Quebec, Canada
J Neurochem 69:348-64. 1997....
- Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunitsJ Carter
Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
J Biol Chem 273:5101-8. 1998..These studies reveal an important difference between the assembly properties of the human and rodent NF-L subunits possibly suggesting that the initiating events in neurofilament assembly may differ in the two species...
- Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6D L Chapman
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
Nature 391:695-7. 1998....
- FRIP, a hematopoietic cell-specific rasGAP-interacting protein phosphorylated in response to cytokine stimulationK Nelms
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Immunity 9:13-24. 1998..FRIP expression is significantly reduced in T cells from hr/hr mice. FRIP may negatively regulate proliferation by acting as an adapter molecule between rasGAP and receptor complexes...
- The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neuronsC L Leung
Departments of Biochemistry and Molecular Biophysics, Columbia University College of Physicians and Surgeons, New York 10032, USA
J Cell Biol 144:435-46. 1999..Since peripherin and BPAG1-n also display similar expression patterns in the nervous system, we suggest that peripherin is the specific interaction partner of BPAG1-n in vivo...
- The cytoskeleton of the myenteric neurons during murine embryonic lifeM S Faussone-Pellegrini
Department of Human Anatomy and Histology, University of Florence, Italy
Anat Embryol (Berl) 199:459-69. 1999....
- Genomic structure, mapping, activity and expression of fibroblast growth factor 17J Xu
Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO 63110, USA
Mech Dev 83:165-78. 1999..In the developing great vessels Fgfl7 is preferentially expressed, suggesting that it may have a more prominent role in vascular growth...
- Disruption of type IV intermediate filament network in mice lacking the neurofilament medium and heavy subunitsH Jacomy
Montreal General Hospital Research Institute, Quebec, Canada
J Neurochem 73:972-84. 1999..The combined results demonstrate a requirement of the high-molecular-weight subunits for the assembly of type IV intermediate filament proteins and for the efficient translocation of NF-L proteins into the axonal compartment...
- Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual systemAndrew S Plump
Department of Anatomy, Howard Hughes Medical Institute, CA, USA
Neuron 33:219-32. 2002..Our results indicate that Slit proteins repel retinal axons in vivo and cooperate to establish a corridor through which the axons are channeled, thereby helping define the site in the ventral diencephalon where the optic chiasm forms...
- Characterization of mouse homolog of brain acyl-CoA hydrolase: molecular cloning and neuronal localizationYu Kuramochi
Department of Clinical Biochemistry, Tokyo University of Pharmacy and Life Science, 1432 1 Horinouchi, Hachioji, 192 0392, Tokyo, Japan
Brain Res Mol Brain Res 98:81-92. 2002..These findings will contribute to the functional analysis of the BACH gene using mice including genetic studies...
- Normal dendritic arborization in spinal motoneurons requires neurofilament subunit LZaixiang Zhang
Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester 01655, USA
J Comp Neurol 450:144-52. 2002..These results demonstrate that NF-L is a critical intrinsic factor for dendritic growth in large motoneurons...
- Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic miceZhenying Nie
Division of Neuropathology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104 6100, USA
J Neurosci 22:7662-70. 2002..Our results suggest that neuropathic effects of overexpressing NF-L can occur at the level of transgene RNA and are mediated by sequences in the NF-L 3' UTR...
- Neuromuscular synapses mediate motor axon branching and motoneuron survival during the embryonic period of programmed cell deathGlen B Banks
School of Biomedical Sciences, Department of Physiology and Pharmacology and SRC for Bio informatics and Applied Genomics, University of Queensland, 4072, St Lucia, Queensland, Australia
Dev Biol 257:71-84. 2003..Thus, agrin-induced synaptic specializations are required for skeletal muscle to effectively control motoneuron numbers during embryonic development...
- Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerveStefano C Previtali
Neuropathology Unit, Department of Neurology, San Raffaele Scientific Institute, 20132 Milan, Italy
Hum Mol Genet 12:1713-23. 2003..Interestingly, NF-L, encoding NF-L, is mutated in CMT2E. These data may provide a basis for the nerve-specific pathogenesis of CMT4B1, and further support for the notion ..
- In vitro assembly properties of mutant and chimeric intermediate filament proteins: insight into the function of sequences in the rod and end domains of IFLisa Gu
Molecular and Cell Biology Graduate Program, University of Maryland Biotechnology Institute, Baltimore 21201, USA
Exp Cell Res 298:249-61. 2004..Therefore, the effect of lamin A "tail" domain alone, or the synergistic effect of lamin "head" and the "tail" domains together, interferes with assembly into 10-nm filaments...
- Oxidative modification of neurofilament-L by the Cu,Zn-superoxide dismutase and hydrogen peroxide systemNam Hoon Kim
Department of Genetic Engineering, Cheongju University, Cheongju 360 764, Korea
Biochimie 86:553-9. 2004..This study suggests that copper-mediated NF-L modification may be closely related to oxidative reactions which play a critical role in neurodegenerative diseases...
- Cells of proopiomelanocortin lineage from the rodent anterior pituitary lack sexually dimorphic expression of neurofilamentsTatiana Fiordelisio
Departamento de Biofisica, Instituto de Fisiologia Celular, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
Neuroendocrinology 83:360-70. 2006..gonadotrophs, thyrotrophs and somatotrophs of the rat anterior pituitary (AP) express 68-kDa neurofilaments (NF68) and other neuronal markers...
- Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2E Kim
Research Institute of Molecular Genetics, The Catholic University of Korea, Seoul, Korea
Cytogenet Genome Res 116:12-7. 2007..There was no mutation cosegregating with the phenotype of CXSD mice, which excluded these genes as the lr2 gene. Identification of more transcripts from this region and their mutation analyses are required to isolate the lr2 gene...
- Protein aggregate-containing neuron-like cells are differentiated from bone marrow mesenchymal stem cells from mice with neurofilament light subunit gene deficiencyYin Xia Chao
Department of Anatomy, Yong Loo Lin School of Medicine, National University of Singapore, MD10, 4 Medical Drive, Singapore 117597, Singapore
Neurosci Lett 417:240-5. 2007..In this study, effects of neurofilament light subunit (NFL) gene deficiency on proliferation and neuronal differentiation of MSCs were studied in vitro...
- Molecular heterogeneity of developing retinal ganglion and amacrine cells revealed through single cell gene expression profilingJeffrey M Trimarchi
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Comp Neurol 502:1047-65. 2007..In addition, this study has allowed for the definition of some of the molecular heterogeneity both between developing ganglion and amacrine cells and among subclasses of each cell type...
- Robos are required for the correct targeting of retinal ganglion cell axons in the visual pathway of the brainCeline Plachez
The University of Maryland, Baltimore, School of Medicine, Baltimore, Maryland, USA
Mol Cell Neurosci 37:719-30. 2008..Further, we found that axons exuberantly projected into the diencephalon. These defects were more pronounced in Robo2 than Robo1 knockout animals, implicating Robo2 as the predominant Robo receptor in visual system development...
- Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafishFrancois Gros-Louis
Department of Medicine, Center for Excellence in Neuromics, CHUM Research Center, University of Montreal, Montreal, QC, Canada
Hum Mol Genet 17:2691-702. 2008..Thus, we speculate that the newly identified Als2 mRNA species prevent the Als2 KO mice from developing severe neurodegenerative disease and might also regulate the severity of the motor neurons phenotype observed in ALS2 patients...
- Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursorsPatrick Pla
Ecole Normale Superieure, Departement de Biologie, 75005 Paris, France
Neural Dev 3:14. 2008..How Phox2b exerts its pleiotropic functions, both as a proneural gene and a neuronal subtype determinant, has remained unknown...
- Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegenerationMartin Balastik
Max Planck Institute of Biophysical Chemistry, 37077 Goettingen, Germany
Proc Natl Acad Sci U S A 105:12016-21. 2008..Our results demonstrate that TRIM2 is an ubiquitin ligase and point to a mechanism regulating NF-L metabolism through an ubiquitination pathway that, if deregulated, triggers neurodegeneration...
- Acrolein, the toxic endogenous aldehyde, induces neurofilament-L aggregationMoon Sik Jeong
Department of Genetic Engineering, Cheongju University, Cheongju, South Korea
BMB Rep 41:635-9. 2008..This study suggests that acrolein-mediated NF-L aggregation might be closely related to oxidative reactions, thus these reactions may play a critical role in neurodegenerative diseases...
- Alternative splicing produces high levels of noncoding isoforms of bHLH transcription factors during developmentRahul N Kanadia
Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA and Department of Ophthalmology, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Genes Dev 24:229-34. 2010..Thus, AS can limit the number of PCs expressing key regulatory proteins that control PC expansion versus PMC production...
- Nestin is required for the proper self-renewal of neural stem cellsDonghyun Park
Department of Human Genetics, University of Chicago, Howard Hughes Medical Institute, Chicago, Illinois, USA
Stem Cells 28:2162-71. 2010..These data demonstrate that nestin is important for the proper survival and self-renewal of NSCs, and that this function is surprisingly uncoupled from nestin's structural involvement in the cytoskeleton...
- Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2EMohammed Filali
CHUL Research Center and Department of Molecular Medicine, Laval University, 2705 Laurier Boul, Quebec G1V 4G2, Canada
Behav Brain Res 219:175-80. 2011..The P22S mutation of the NEFL gene encoding the light polypeptide neurofilament (NFL) is associated with CMT...
- Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafishA W Puschel
Institute of Neuroscience, University of Oregon, Eugene 97403
Mech Dev 38:197-208. 1992..Our results confirm that Pax genes are highly conserved both in sequences and in expression patterns, indicating that they may have a function during early development that has been conserved during vertebrate evolution...
- Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunitS R Gill
Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
J Cell Biol 111:2005-19. 1990..Insertional mutagenesis in the nonhelical spacer region within the rod domain reveals that as many as eight additional amino acids can be tolerated without disrupting assembly competence...
- Chromosomal localization of the mouse gene coding for the 68 kDa neurofilament subunitM G Mattei
INSERM U 242, Centre de Genetique Medicale, Hopital d Enfants de la Timone, Marseille, France
Biol Cell 67:235-7. 1989..There is only one copy of the NF-L gene. The gene encoding NF-L is located on chromosome 14 region (D1-E1)...
- Nestin mRNA expression correlates with the central nervous system progenitor cell state in many, but not all, regions of developing central nervous systemJ Dahlstrand
Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden
Brain Res Dev Brain Res 84:109-29. 1995....
- Aberrant expression of Pax-2 in Danforth's short tail (Sd) miceD E Phelps
Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
Dev Biol 157:251-8. 1993..The Danforth's short tail mutation is a useful model for the study of developmentally regulated genes that are under the influence of the notochord or floor plate...
- Transcription factor AP-2 essential for cranial closure and craniofacial developmentH Schorle
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Nature 381:235-8. 1996....
- Molecular Development of the Endolymphatic Duct and SacDaniel Choo; Fiscal Year: 2005..Significantly, this proposal includes challenging but achievable goals that will provide important knowledge to the field of inner ear development. ..