Nefl

Summary

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
Species: mouse

Top Publications

  1. ncbi Involvement of Wnt-1 in the formation of the mes/metencephalic boundary
    L Bally-Cuif
    INSERM U106, Hopital de la Salpetriere, Paris, France
    Mech Dev 53:23-34. 1995
  2. ncbi Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapses
    D 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. ncbi 3' untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells
    Hong Lin
    Division of Neuropathology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 24:2716-26. 2004
  4. ncbi Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glands
    M Tanaka
    Cardiovascular Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    Dev Dyn 219:248-60. 2000
  5. pmc Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1
    M 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
  6. ncbi Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice
    A 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
  7. ncbi Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolism
    M Dubois
    Faculte des Sciences, UPRES PSY CO EA 1780, Universite de Rouen, Mont Saint Aignan, France
    J Neurosci Res 80:741-50. 2005
  8. ncbi Notch 1 inhibits photoreceptor production in the developing mammalian retina
    Ashutosh 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
  9. pmc Anomalous placement of introns in a member of the intermediate filament multigene family: an evolutionary conundrum
    S A Lewis
    Mol Cell Biol 6:1529-34. 1986
  10. ncbi A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease
    M K Lee
    Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Neuron 13:975-88. 1994

Research Grants

Scientific Experts

Detail Information

Publications120 found, 100 shown here

  1. ncbi Involvement of Wnt-1 in the formation of the mes/metencephalic boundary
    L Bally-Cuif
    INSERM U106, Hopital de la Salpetriere, Paris, France
    Mech Dev 53:23-34. 1995
    ....
  2. ncbi Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapses
    D 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. ncbi 3' untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells
    Hong Lin
    Division of Neuropathology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 24:2716-26. 2004
    ....
  4. ncbi Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glands
    M 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...
  5. pmc Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1
    M 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...
  6. ncbi Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice
    A 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
    ....
  7. ncbi Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolism
    M 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 ..
  8. ncbi Notch 1 inhibits photoreceptor production in the developing mammalian retina
    Ashutosh 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...
  9. pmc Anomalous placement of introns in a member of the intermediate filament multigene family: an evolutionary conundrum
    S A Lewis
    Mol Cell Biol 6:1529-34. 1986
    ....
  10. ncbi A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease
    M 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...
  11. ncbi Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
    Z 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...
  12. ncbi Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    Q 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...
  13. pmc Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant
    T 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
    ....
  14. ncbi 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...
  15. ncbi Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions
    M 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
    ....
  16. ncbi Development of chromaffin cells depends on MASH1 function
    Katrin 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...
  17. pmc Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density
    Mala 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
    ....
  18. ncbi Neurofilament transport in vivo minimally requires hetero-oligomer formation
    Aidong 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...
  19. pmc Late onset of motor neurons in mice overexpressing wild-type peripherin
    J 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...
  20. ncbi The role of Phox2B in chromaffin cell development
    Katrin 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...
  21. ncbi Lack of an adrenal cortex in Sf1 mutant mice is compatible with the generation and differentiation of chromaffin cells
    Philipp 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...
  22. ncbi Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS
    Aidong Yuan
    Center for Dementia Research, Nathan Kline Institute, Orangeburg, New York 10962, USA
    J Neurosci 26:10006-19. 2006
    ....
  23. ncbi Conditional NF-L transgene expression in mice for in vivo analysis of turnover and transport rate of neurofilaments
    Stephanie 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...
  24. pmc Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits
    P 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...
  25. ncbi Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein
    J 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...
  26. doi Structural requirement of TAG-1 for retinal ganglion cell axons and myelin in the mouse optic nerve
    Elli 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...
  27. ncbi Structure and evolutionary origin of the gene encoding mouse NF-M, the middle-molecular-mass neurofilament protein
    E 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...
  28. ncbi Severe neuronal losses with age in the parietal cortex and ventrobasal thalamus of mice transgenic for the human NF-L neurofilament protein
    D 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...
  29. ncbi Cloning and developmental expression of the murine neurofilament gene family
    J 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...
  30. ncbi Localization of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probe
    M J Somerville
    Department of Physiology, University of Toronto, Ont, Canada
    Genome 30:499-500. 1988
    A 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...
  31. ncbi Expanding roles for alpha 4 integrin and its ligands in development
    A 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...
  32. ncbi Stage-specific expression of alkaline phosphatase during neural development in the mouse
    S 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...
  33. ncbi The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14
    L L Peters
    Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genomics 26:634-5. 1995
  34. ncbi Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
    C 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...
  35. ncbi Early upregulation of medium neurofilament gene expression in developing spinal cord of the wobbler mouse mutant
    R 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...
  36. ncbi Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system
    M 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
    ....
  37. ncbi LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons
    K 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...
  38. ncbi 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 cells
    Y 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...
  39. ncbi Otx1 and Otx2 activities are required for the normal development of the mouse inner ear
    H 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...
  40. ncbi The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retina
    D 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
    ....
  41. ncbi Regionalized neurofilament accumulation and motoneuron degeneration are linked phenotypes in wobbler neuromuscular disease
    R 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...
  42. ncbi The nNOS inhibitor, AR-R17477AR, prevents the loss of NF68 immunoreactivity induced by methamphetamine in the mouse striatum
    Veronica 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)...
  43. ncbi Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase
    Roxanne 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...
  44. ncbi 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 ..
  45. ncbi Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH
    Julian 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...
  46. pmc Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport
    Jia 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...
  47. pmc Genetically-directed, cell type-specific sparse labeling for the analysis of neuronal morphology
    Thomas Rotolo
    Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    PLoS ONE 3:e4099. 2008
    ....
  48. doi 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 injury
    Katie 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 ..
  49. pmc The oligodendrocyte-specific G protein-coupled receptor GPR17 is a cell-intrinsic timer of myelination
    Ying 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
    ....
  50. pmc The myosin Va head domain binds to the neurofilament-L rod and modulates endoplasmic reticulum (ER) content and distribution within axons
    Mala 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...
  51. doi The transcription factors AP-2β and AP-2α are required for survival of sympathetic progenitors and differentiated sympathetic neurons
    Mirko 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...
  52. pmc NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons
    Kazumasa 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...
  53. pmc Auditory ganglion source of Sonic hedgehog regulates timing of cell cycle exit and differentiation of mammalian cochlear hair cells
    Jinwoong 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
    ....
  54. doi Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality
    Tzyy 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. ..
  55. pmc Adrenal Development in Mice Requires GATA4 and GATA6 Transcription Factors
    Sergei 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. ..
  56. pmc Neuropilin-2/Semaphorin-3F-mediated repulsion promotes inner hair cell innervation by spiral ganglion neurons
    Thomas 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. ..
  57. pmc Cbx4 maintains the epithelial lineage identity and cell proliferation in the developing stratified epithelium
    Andrei 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
    ....
  58. ncbi Interaction of multiple nuclear proteins with the promoter region of the mouse 68-kDa neurofilament gene
    T 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...
  59. ncbi Intragenic regulatory elements contribute to transcriptional control of the neurofilament light gene
    L 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...
  60. ncbi NCAM in the organ of Corti of the developing mouse
    D 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...
  61. ncbi Axonal atrophy in aging is associated with a decline in neurofilament gene expression
    I 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...
  62. ncbi Deletion of 3'-untranslated region alters the level of mRNA expression of a neurofilament light subunit transgene
    M 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...
  63. ncbi CNS distribution and overexpression of neurofilament light proteins (NF-L) in mice transgenic for the human NF-L: aberrant accumulation in thalamic perikarya
    J 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...
  64. ncbi Changes of the expression and distribution of retinoic acid receptors during neurogenesis in mouse embryos
    T 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...
  65. ncbi 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...
  66. ncbi Okadaic acid suppresses neural differentiation-dependent expression of the neurofilament-L gene in P19 embryonal carcinoma cells by post-transcriptional modification
    Y Sasahara
    Department of Biochemistry, Institute of Development, Aging and Cancer, Tohoku University, Sendai 980, Japan
    J Biol Chem 271:25950-7. 1996
    ....
  67. ncbi Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cells
    C 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...
  68. ncbi A novel cdc2-related protein kinase expressed in the nervous system
    M A Lazzaro
    Centre for Research in Neuroscience, McGill University and Montreal General Hospital Research Institute, Quebec, Canada
    J Neurochem 69:348-64. 1997
    ....
  69. ncbi Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunits
    J 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...
  70. ncbi Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6
    D 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
    ....
  71. ncbi FRIP, a hematopoietic cell-specific rasGAP-interacting protein phosphorylated in response to cytokine stimulation
    K 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...
  72. pmc The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons
    C 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...
  73. ncbi The cytoskeleton of the myenteric neurons during murine embryonic life
    M S Faussone-Pellegrini
    Department of Human Anatomy and Histology, University of Florence, Italy
    Anat Embryol (Berl) 199:459-69. 1999
    ....
  74. ncbi Genomic structure, mapping, activity and expression of fibroblast growth factor 17
    J 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...
  75. ncbi Disruption of type IV intermediate filament network in mice lacking the neurofilament medium and heavy subunits
    H 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...
  76. ncbi Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system
    Andrew 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...
  77. ncbi Characterization of mouse homolog of brain acyl-CoA hydrolase: molecular cloning and neuronal localization
    Yu 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...
  78. ncbi Normal dendritic arborization in spinal motoneurons requires neurofilament subunit L
    Zaixiang 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...
  79. ncbi Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic mice
    Zhenying 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...
  80. ncbi Neuromuscular synapses mediate motor axon branching and motoneuron survival during the embryonic period of programmed cell death
    Glen 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...
  81. ncbi Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
    Stefano 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 ..
  82. ncbi In vitro assembly properties of mutant and chimeric intermediate filament proteins: insight into the function of sequences in the rod and end domains of IF
    Lisa 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...
  83. ncbi Oxidative modification of neurofilament-L by the Cu,Zn-superoxide dismutase and hydrogen peroxide system
    Nam 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...
  84. ncbi Cells of proopiomelanocortin lineage from the rodent anterior pituitary lack sexually dimorphic expression of neurofilaments
    Tatiana 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...
  85. ncbi Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2
    E 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...
  86. ncbi Protein aggregate-containing neuron-like cells are differentiated from bone marrow mesenchymal stem cells from mice with neurofilament light subunit gene deficiency
    Yin 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...
  87. ncbi Molecular heterogeneity of developing retinal ganglion and amacrine cells revealed through single cell gene expression profiling
    Jeffrey 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...
  88. doi Robos are required for the correct targeting of retinal ganglion cell axons in the visual pathway of the brain
    Celine 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...
  89. doi Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish
    Francois 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...
  90. pmc Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors
    Patrick 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...
  91. pmc Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration
    Martin 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...
  92. ncbi Acrolein, the toxic endogenous aldehyde, induces neurofilament-L aggregation
    Moon 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...
  93. pmc Alternative splicing produces high levels of noncoding isoforms of bHLH transcription factors during development
    Rahul 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...
  94. doi Nestin is required for the proper self-renewal of neural stem cells
    Donghyun 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...
  95. doi Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E
    Mohammed 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...
  96. ncbi Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish
    A 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...
  97. pmc Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit
    S 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...
  98. ncbi Chromosomal localization of the mouse gene coding for the 68 kDa neurofilament subunit
    M 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)...
  99. ncbi Nestin mRNA expression correlates with the central nervous system progenitor cell state in many, but not all, regions of developing central nervous system
    J Dahlstrand
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden
    Brain Res Dev Brain Res 84:109-29. 1995
    ....
  100. ncbi Aberrant expression of Pax-2 in Danforth's short tail (Sd) mice
    D 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...
  101. ncbi Transcription factor AP-2 essential for cranial closure and craniofacial development
    H Schorle
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Nature 381:235-8. 1996
    ....

Research Grants1

  1. Molecular Development of the Endolymphatic Duct and Sac
    Daniel Choo; Fiscal Year: 2005
    ..Significantly, this proposal includes challenging but achievable goals that will provide important knowledge to the field of inner ear development. ..