Nefh

Summary

Gene Symbol: Nefh
Description: neurofilament, heavy polypeptide
Alias: NF-H, NF200, Nfh, mKIAA0845, neurofilament heavy polypeptide, 200 kDa neurofilament protein, neurofilament 200kDa, neurofilament triplet H protein
Species: mouse

Top Publications

  1. pmc Altered axonal architecture by removal of the heavily phosphorylated neurofilament tail domains strongly slows superoxide dismutase 1 mutant-mediated ALS
    Christian S Lobsiger
    Ludwig Institute for Cancer Research and Department of Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 102:10351-6. 2005
  2. doi Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms
    Balazs Hegedus
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Cell Stem Cell 1:443-57. 2007
  3. pmc Presynaptically localized cyclic GMP-dependent protein kinase 1 is a key determinant of spinal synaptic potentiation and pain hypersensitivity
    Ceng Luo
    Pharmacology Institute, University of Heidelberg, Heidelberg, Germany
    PLoS Biol 10:e1001283. 2012
  4. 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
  5. ncbi Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly
    D Hartmann
    Anatomisches Institut der CAU Kiel, Otto Hahn Platz 8, D 24 118, Kiel, Germany
    Curr Biol 9:719-27. 1999
  6. 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
  7. doi Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
    Roberto Buccafusca
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA
    Mol Genet Metab 95:81-95. 2008
  8. ncbi Cloning and developmental expression of the murine neurofilament gene family
    J P Julien
    Brain Res 387:243-50. 1986
  9. pmc The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it
    J F Lees
    Laboratory of Molecular Genetics, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD 20892
    EMBO J 7:1947-55. 1988
  10. ncbi Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
    J F Collard
    Centre for Research in Neurosciences, McGill University, Montreal General Hospital Research Institute, Canada
    Nature 375:61-4. 1995

Research Grants

Scientific Experts

Detail Information

Publications125 found, 100 shown here

  1. pmc Altered axonal architecture by removal of the heavily phosphorylated neurofilament tail domains strongly slows superoxide dismutase 1 mutant-mediated ALS
    Christian S Lobsiger
    Ludwig Institute for Cancer Research and Department of Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 102:10351-6. 2005
    ....
  2. doi Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms
    Balazs Hegedus
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Cell Stem Cell 1:443-57. 2007
    ..Together, these findings demonstrate that neurofibromin is required for normal glial and neuronal development involving separable Ras-dependent and cAMP-dependent mechanisms...
  3. pmc Presynaptically localized cyclic GMP-dependent protein kinase 1 is a key determinant of spinal synaptic potentiation and pain hypersensitivity
    Ceng Luo
    Pharmacology Institute, University of Heidelberg, Heidelberg, Germany
    PLoS Biol 10:e1001283. 2012
    ....
  4. 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
    ....
  5. ncbi Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly
    D Hartmann
    Anatomisches Institut der CAU Kiel, Otto Hahn Platz 8, D 24 118, Kiel, Germany
    Curr Biol 9:719-27. 1999
    ..Physiologically, the presenilins are involved in the Notch and Wnt-beta-catenin signaling pathways...
  6. 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...
  7. doi Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
    Roberto Buccafusca
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA
    Mol Genet Metab 95:81-95. 2008
    ..In conclusion, in neonatal brain tissue, Mrps6 gene expression may not be contingent on function of its embedded Slc5a3 gene, while inositide deficiency may not be the mechanism of lethal apnea in null Slc5a3 mice...
  8. 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...
  9. pmc The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it
    J F Lees
    Laboratory of Molecular Genetics, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD 20892
    EMBO J 7:1947-55. 1988
    ..The human NF-H gene has three introns, two of which interrupt the protein-coding sequence at identical points to introns in the genes for the two smaller NF proteins, NF-M and NF-L.(ABSTRACT TRUNCATED AT 250 WORDS)..
  10. ncbi Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
    J F Collard
    Centre for Research in Neurosciences, McGill University, Montreal General Hospital Research Institute, Canada
    Nature 375:61-4. 1995
    ....
  11. 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...
  12. ncbi Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
    D A Figlewicz
    Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada
    Hum Mol Genet 3:1757-61. 1994
    ..The C-terminal region of the human neurofilament heavy subunit (NEFH) contains a unique functional domain consisting of 43 repeat motifs of the amino acids Lys-Ser-Pro (KSP)...
  13. ncbi Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis
    F Cote
    Centre for Research in Neurosciences McGill University, Canada
    Cell 73:35-46. 1993
    ....
  14. ncbi Defective neuromuscular synaptogenesis in agrin-deficient mutant mice
    M Gautam
    Department of Anatomy and Neurobiology, Washington University Medical School St Louis, Missouri 63110, USA
    Cell 85:525-35. 1996
    ....
  15. pmc Neurofilament subunit NF-H modulates axonal diameter by selectively slowing neurofilament transport
    J R Marszalek
    Division of Cellular and Molecular Medicine, University of California at San Diego, La Jolla 92093, USA
    J Cell Biol 135:711-24. 1996
    ....
  16. ncbi Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice
    J Dowling
    Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, Chicago, Illinois 60637, USA
    Dev Biol 187:131-42. 1997
    ..Collectively, our findings suggest a mechanism for the BPAG1 null phenotype and indicate that different neurons respond differently to the absence of BPAG1-n, a cytoskeletal linker protein...
  17. pmc Neurofilament-dependent radial growth of motor axons and axonal organization of neurofilaments does not require the neurofilament heavy subunit (NF-H) or its phosphorylation
    M V Rao
    Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, California 92093, USA
    J Cell Biol 143:171-81. 1998
    ....
  18. pmc Requirement of heavy neurofilament subunit in the development of axons with large calibers
    G A Elder
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Cell Biol 143:195-205. 1998
    ..These results demonstrate directly that unlike losing the NF-L or NF-M subunits, loss of NF-H has only a slight effect on NF number in axons. Yet NF-H plays a major role in the development of large diameter axons...
  19. 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...
  20. pmc Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport
    Mala V Rao
    Nathan Kline Institute, New York University School of Medicine, Orangeburg, NY 10962, USA
    J Cell Biol 158:681-93. 2002
    ..Most surprisingly, at least in optic nerve axons, loss of the NF-H tail does not affect the rate of transport of neurofilament subunits...
  21. 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
    ....
  22. pmc NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth
    Michael L Garcia
    Ludwig Institute for Cancer Research, Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA 92093, USA
    J Cell Biol 163:1011-20. 2003
    ..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...
  23. 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
    ....
  24. doi The neurotrophic effects of glial cell line-derived neurotrophic factor on spinal motoneurons are restricted to fusimotor subtypes
    Thomas W Gould
    Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe 650 0047, Japan
    J Neurosci 28:2131-46. 2008
    ..Therefore, although GDNF influences several aspects of MN development, the survival-promoting effects of GDNF during programmed cell death are mostly confined to spindle-innervating MNs...
  25. pmc Merkel cells are essential for light-touch responses
    Stephen M Maricich
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 324:1580-2. 2009
    ..Merkel cells are, therefore, required for the proper encoding of Merkel receptor responses, suggesting that these cells form an indispensible part of the somatosensory system...
  26. pmc Epidermal progenitors give rise to Merkel cells during embryonic development and adult homeostasis
    Alexandra Van Keymeulen
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles, Brussels B 1070, Belgium
    J Cell Biol 187:91-100. 2009
    ..Our study demonstrates that MCs arise from the epidermis by an Atoh1-dependent mechanism and opens new avenues for study of MC functions in sensory perception, neuroendocrine signaling, and MC carcinoma...
  27. doi Low-threshold mechanoreceptor subtypes selectively express MafA and are specified by Ret signaling
    Steeve Bourane
    INSERM U 583, F34091 Montpellier, France
    Neuron 64:857-70. 2009
    ..Our results provide evidence that genetic interactions involving Ret and MafA progressively promote the differentiation and diversification of LTMs...
  28. pmc Gata3 is a critical regulator of cochlear wiring
    Jessica M Appler
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 33:3679-91. 2013
    ..As the first auditory-specific regulator of SGN development, Gata3 provides a useful molecular entry point for efforts to engineer SGNs for the restoration of hearing...
  29. 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
    ..central nervous system (CNS) and peripheral nervous system (PNS) neurons, are heteropolymers formed from the high (NFH), middle (NFM), and low (NFL) molecular weight NF subunits...
  30. 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
    ..mice expressing a fusion protein in which the carboxyl terminus of the high molecular weight neurofilament protein (NFH) was replaced by beta-galactosidase. The transgene, regulated by NFH sequences, was expressed in projection neurons...
  31. 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...
  32. ncbi Sequence and structure of the mouse gene coding for the largest neurofilament subunit
    J P Julien
    Institut du Cancer de Montreal, Centre Hospitalier Notre Dame, Canada
    Gene 68:307-14. 1988
    ..The nfh gene shares two common intron positions with the nfl and nfm genes, but has an additional intron that occurs at a ..
  33. 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...
  34. pmc Disruption of the NF-H gene increases axonal microtubule content and velocity of neurofilament transport: relief of axonopathy resulting from the toxin beta,beta'-iminodipropionitrile
    Q Zhu
    Centre for Research in Neuroscience, McGill University, The Montreal General Hospital Research Institute, Montreal, Quebec, Canada H3G 1A4
    J Cell Biol 143:183-93. 1998
    ..These results indicate that the NF-H subunit is a key mediator of IDPN-induced axonopathy...
  35. ncbi Mice with disrupted midsized and heavy neurofilament genes lack axonal neurofilaments but have unaltered numbers of axonal microtubules
    G A Elder
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Neurosci Res 57:23-32. 1999
    ..Thus in vivo rodent neurofilaments are obligate heteropolymers requiring NF-L plus either NF-M or NF-H to form a filamentous network...
  36. ncbi Negative regulatory regions are present upstream in the three mouse neurofilament genes
    P S Shneidman
    Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical School, Philadelphia 19104 6079
    Brain Res Mol Brain Res 13:127-38. 1992
    ..The role of the negative elements in regulating NF expression remains unclear...
  37. pmc Susceptibility to renal carcinoma in the Eker rat involves a tumor suppressor gene on chromosome 10
    R S Yeung
    Division of Medical Science, Fox Chase Cancer Center, Philadelphia, PA 19111
    Proc Natl Acad Sci U S A 90:8038-42. 1993
    ..Our result suggested that the human homolog of the RC gene may reside on human chromosome 16, not known to be altered commonly in human RC...
  38. ncbi 43K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo
    P G Noakes
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110
    Dev Biol 155:275-80. 1993
    ..The precise colocalization of 43K and AChRs persisted through development. These results are consistent with 43K being involved in the nerve-induced clustering of AChRs during synapse formation...
  39. ncbi Expression of the Notch 3 intracellular domain in mouse central nervous system progenitor cells is lethal and leads to disturbed neural tube development
    M Lardelli
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden
    Mech Dev 59:177-90. 1996
    ....
  40. ncbi Distribution of neuronal intermediate filament proteins in the developing mouse olfactory system
    C L Chien
    Department of Anatomy, College of Medicine, National Taiwan University, Taipei, Republic of China
    J Neurosci Res 54:353-63. 1998
    ..Our results suggest that alpha-internexin may play a functional role in the neuronal cytoarchitecture of developing olfactory system, and can be a neuronal marker for detecting postmitotic migrating neurons in the adult olfactory bulb...
  41. 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...
  42. ncbi Postnatal regulation of limb proprioception by muscle-derived neurotrophin-3
    M D Taylor
    Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA
    J Comp Neurol 432:244-58. 2001
    ..However, our results also show that NT-3 may be therapeutic for proprioceptive axons immediately after nerve injury by delaying axon degeneration...
  43. ncbi High molecular weight neurofilament proteins are physiological substrates of adduction by the lipid peroxidation product hydroxynonenal
    Takafumi Wataya
    Institute of Pathology and Departments of Physiology and Biophysics, and Chemistry, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Biol Chem 277:4644-8. 2002
    ..Immunoblots of axonal proteins showed that HNE adducts are only detected in neurofilament heavy subunit (NFH) and, to a lesser extent, neurofilament medium subunit (NFM), both lysine-rich proteins, consistent with the ..
  44. ncbi Math3 and NeuroD regulate amacrine cell fate specification in the retina
    Tomoyuki Inoue
    Institute for Virus Research, Kyoto University, Kyoto 606 8507, Japan
    Development 129:831-42. 2002
    ....
  45. ncbi Frizzled-3 is required for the development of major fiber tracts in the rostral CNS
    Yanshu Wang
    Department of Molecular Biology and Genetics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Neurosci 22:8563-73. 2002
    ..In contrast, there is little cell death, as assayed by terminal deoxynucleotidyl transferase-mediated biotinylated UTP nick end labeling, in the cortex. These data provide the first link between Frizzled signaling and axonal development...
  46. ncbi Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice
    Anna Corradi
    San Raffaele Scientific Institute, Milan, Italy
    Development 130:401-10. 2003
    ..Ebf2-null mice reveal a novel genetic cause of hypogonadotropic hypogonadism and peripheral neuropathy in the mouse, disclosing an important role for Ebf2 in neuronal migration and nerve development...
  47. ncbi Peripherin-mediated death of motor neurons rescued by overexpression of neurofilament NF-H proteins
    Jean Martin Beaulieu
    Centre for Research in Neurosciences, McGill University, The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
    J Neurochem 85:248-56. 2003
    ..These findings illustrate the importance of IF protein stoichiometry in formation, localization and toxicity of neuronal inclusion bodies...
  48. pmc A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3
    Wenlin Yuan
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 100:5217-22. 2003
    ..This study establishes the first genetic model for CDH and identifies a previously unsuspected role for Slit3 in regulating the development of the diaphragm...
  49. ncbi Anatomical and functional analysis of aquaporin 1, a water channel in primary afferent neurons
    Shannon D Shields
    Departments of Anatomy and Physiology and W M Keck Foundation Center for Integrative Neuroscience, University of California San Francisco, San Francisco, CA 94158, USA
    Pain 131:8-20. 2007
    ..To date we have not detected a differential phenotype suggestive of a functional contribution of AQP1 to nociceptive processing...
  50. ncbi Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons
    Iris Hack
    Institut fur Anatomie und Zellbiologie, Albert Ludwigs Universitat Freiburg, D 79104 Freiburg, Germany
    Development 134:3883-91. 2007
    ..We present evidence for divergent roles of the two reelin receptors Vldlr and ApoER2, with Vldlr mediating a stop signal for migrating neurons and ApoER2 being essential for the migration of late generated neocortical neurons...
  51. ncbi Patterned neuropathologic events occurring in hyh congenital hydrocephalic mutant mice
    Patricia Páez
    Departamento de Biologia Celular, Genética y Fisiología, Facultad de Ciencias, Universidad de Malaga, Malaga, Spain
    J Neuropathol Exp Neurol 66:1082-92. 2007
    ..All evidence collected on hydrocephalic hyh mutant mice indicates that a primary alteration in the neuroepithelium/ependyma cell lineage triggers both hydrocephalus and abnormalities in telencephalic development...
  52. pmc Loss of Hoxb8 alters spinal dorsal laminae and sensory responses in mice
    Jan C Holstege
    Department of Neuroscience, Erasmus Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:6338-43. 2008
    ..The data therefore suggest that a lower number of neurons in the upper spinal laminae and neuronal disorganization in the dorsal horn underlie the sensory defects including the excessive grooming of the Hoxb8 mutant...
  53. doi Collagen XXVIII is a distinctive component of the peripheral nervous system nodes of ranvier and surrounds nonmyelinating glial cells
    Sophie Grimal
    INSERM U583, Institut des Neurosciences de Montpellier, Université Montpellier II Hôpital Saint Eloi, 80 rue Augustin Fliche, BP 74103, 34091 Montpellier Cedex 5
    Glia 58:1977-87. 2010
    ....
  54. pmc Restriction of transient receptor potential vanilloid-1 to the peptidergic subset of primary afferent neurons follows its developmental downregulation in nonpeptidergic neurons
    Daniel J Cavanaugh
    Departments of Anatomy, University of California, San Francisco, California 94158, USA
    J Neurosci 31:10119-27. 2011
    ....
  55. pmc Deregulation of the p57-E2F1-p53 axis results in nonobstructive hydrocephalus and cerebellar malformation in mice
    Akinobu Matsumoto
    Department of Molecular and Cellular Biology, Medical Institute of Bioregulation, Kyushu University, 3 1 1 Maidashi, Fukuoka, Fukuoka 812 8582, Japan
    Mol Cell Biol 31:4176-92. 2011
    ..Our results thus implicate p57 in cell cycle arrest in the subcommissural organ and Pax2-positive interneuron precursors, with the lack of p57 resulting in induction of p53-dependent apoptosis due to hyperactivation of E2F1...
  56. doi Dependence on the transcription factor Shox2 for specification of sensory neurons conveying discriminative touch
    Hind Abdo
    Division of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden
    Eur J Neurosci 34:1529-41. 2011
    ..These results show that Shox2 is required for specification of a subclass of TrkB(+) sensory neurons which convey the sensation of discriminative touch arising from stimuli of the skin...
  57. pmc Excitatory glutamate is essential for development and maintenance of the piloneural mechanoreceptor
    Seung Hyun Woo
    Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Development 139:740-8. 2012
    ..The molecular basis for piloneural development, maintenance and function is poorly understood. Here, we show that Nefh-expressing glutamatergic neurons represent a major population of longitudinal and circumferential sensory afferents ..
  58. doi A novel function for the survival motoneuron protein as a translational regulator
    Gabriel Sanchez
    Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada K1H 8M5
    Hum Mol Genet 22:668-84. 2013
    ..Importantly, an SMA-causing mutation in the Tudor domain of SMN completely abolished translational repression, a strong indication for the functional significance of this novel SMN activity in the pathology...
  59. pmc Reprogramming amacrine and photoreceptor progenitors into retinal ganglion cells by replacing Neurod1 with Atoh7
    Chai An Mao
    Department of Biochemistry and Molecular Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA
    Development 140:541-51. 2013
    ..The results indicate that Atoh7 and Neurod1 activate distinct sets of genes in vivo, despite their common DNA-binding element...
  60. pmc Cis and trans RET signaling control the survival and central projection growth of rapidly adapting mechanoreceptors
    Michael S Fleming
    Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, United States
    elife 4:e06828. 2015
    ..Taken together, our results suggest that trans and cis RET signaling could function in the same developmental process and that the availability of both forms of activation likely enhances but not diversifies outcomes of RET signaling. ..
  61. pmc Schwann cell myelination requires integration of laminin activities
    Karen K McKee
    Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA
    J Cell Sci 125:4609-19. 2012
    ....
  62. pmc WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters
    Jesse Rinehart
    Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Biol Chem 286:30171-80. 2011
    ..These findings suggest a role for WNK2 in the regulation of CCCs in the mammalian brain, with implications for both cell volume regulation and/or GABAergic signaling...
  63. pmc Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway
    Thomas M Coate
    Laboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 73:49-63. 2012
    ..These results indicate a model whereby Pou3f4 in the otic mesenchyme establishes an Eph/ephrin-mediated fasciculation signal that promotes inner radial bundle formation...
  64. doi Distribution of protocadherin 9 protein in the developing mouse nervous system
    H Asahina
    Department of Neurobiology and Anatomy, Kochi Medical School, Kochi University, Okoh cho, Nankoku City, Kochi 783 8505, Japan
    Neuroscience 225:88-104. 2012
    ..In the dorsal root ganglion, only certain subsets of neurons showed Pcdh9 immunoreactivity. These results suggest that Pcdh9 might be involved in formation of specific neural circuits during neural development...
  65. 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...
  66. ncbi Incomplete T cell receptor V beta allelic exclusion and dual V beta-expressing cells
    D Balomenos
    Department of Immunology, Scripps Research Institute, La Jolla, CA 92037, USA
    J Immunol 155:3308-12. 1995
    ..These findings may have important implications for TCR selection and specificity, age-related repertoire changes, and autoimmune disease pathogenesis...
  67. 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
    ....
  68. ncbi Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice
    R H Brown
    Cecil B Day Laboratory for Neuromuscular Research Neurology Service, Massachusetts General Hospital, Boston 02114
    Cell 80:687-92. 1995
  69. ncbi Overexpression of a membrane protein, neuropilin, in chimeric mice causes anomalies in the cardiovascular system, nervous system and limbs
    T Kitsukawa
    Department of Molecular Biology, School of Science, Nagoya University, Japan
    Development 121:4309-18. 1995
    ..Correct spatiotemporal expression of neuropilin seems to be essential for normal development of the cardiovascular system, nervous system and limbs...
  70. pmc POU domain factor Brn-3b is required for the development of a large set of retinal ganglion cells
    L Gan
    Department of Biochemistry and Molecular Biology, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Proc Natl Acad Sci U S A 93:3920-5. 1996
    ..In Brn-3b (-/-) mice other neurons within the retina and brain are minimally or not at all affected. These experiments indicate that Brn-3b plays an essential role in the development of specific ganglion cell types...
  71. 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...
  72. ncbi Phosphorylation of neurofilament heavy-chain side-arm fragments by cyclin-dependent kinase-5 and glycogen synthase kinase-3alpha in transfected cells
    N P Bajaj
    Department of Neurology, Institute of Psychiatry, London, England, U K
    J Neurochem 69:737-43. 1997
    ..Using the transfected fragments, we also map the epitopes for several commonly utilised NF-H monoclonal antibodies and describe the effects that phosphorylation by cdk-5 and GSK-3alpha have on their reactivities...
  73. 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...
  74. 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
    ....
  75. ncbi Kinesin superfamily motor protein KIF17 and mLin-10 in NMDA receptor-containing vesicle transport
    M Setou
    Department of Cell Biology and Anatomy, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo, Japan
    Science 288:1796-802. 2000
    ..This interaction, specific for a neurotransmitter receptor critically important for plasticity in the postsynaptic terminal, may be a regulatory point for synaptic plasticity and neuronal morphogenesis...
  76. ncbi An amphioxus Emx homeobox gene reveals duplication during vertebrate evolution
    N A Williams
    School of Animal and Microbial Sciences, University of Reading, Reading, England
    Mol Biol Evol 17:1520-8. 2000
    ..Finally, our molecular phylogenetic analysis strongly supports the presence of a single Emx gene in the ancestor of chordates and gene duplication along the vertebrate lineage...
  77. ncbi The mammalian ShcB and ShcC phosphotyrosine docking proteins function in the maturation of sensory and sympathetic neurons
    R Sakai
    Program in Molecular Biology and Cancer, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, M5G 1X5, Toronto, Ontario, Canada
    Neuron 28:819-33. 2000
    ..The results indicate that these Shc family members possess both unique and overlapping functions in regulating neural development and suggest physiological roles for ShcB/ShcC in TrkA signaling...
  78. ncbi Attenuated neurodegenerative disease phenotype in tau transgenic mouse lacking neurofilaments
    T Ishihara
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 21:6026-35. 2001
    ..tau (T44) Tg mice overexpressing the smallest human tau isoform with knock-out mice devoid of NFL (NFL-/-) or NFH (NFH-/-). Depletion of NF subunit proteins from the T44 mice (i.e...
  79. 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...
  80. pmc Diverse dependencies of developing Merkel innervation on the trkA and both full-length and truncated isoforms of trkC
    Katharine M Cronk
    Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, USA
    Development 129:3739-50. 2002
    ..Therefore, truncated trkC plays a more important role in the development of this innervation than kinase forms of trkA or trkC or of NT3, the only known ligand for trkC receptors...
  81. ncbi Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase
    Thomas Misgeld
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuron 36:635-48. 2002
    ..At subsequent stages, neurotransmission delays some steps in synaptic maturation but accelerates others. Thus, neurotransmission affects synaptogenesis from early stages and coordinates rather than drives synaptic maturation...
  82. ncbi BDNF gene replacement reveals multiple mechanisms for establishing neurotrophin specificity during sensory nervous system development
    Karin Agerman
    Unit of Molecular Neurobiology, MBB, Karolinska Institutet, 171 77 Stockholm, Sweden
    Development 130:1479-91. 2003
    ....
  83. 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...
  84. ncbi Schwann cells synthesize alpha7beta1 integrin which is dispensable for peripheral nerve development and myelination
    S C Previtali
    Neuropathology Unit, San Raffaele Scientific Institute, Milan, Italy
    Mol Cell Neurosci 23:210-8. 2003
    ..Nonetheless, these data taken together with the previous demonstration of impaired axonal regrowth in alpha7-null mice suggest a possible Schwann cell-autonomous role for alpha7 in nerve regeneration...
  85. pmc Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice
    Robert W Burgess
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Mol Cell Biol 24:1096-105. 2004
    ..elegans, we propose that Phr1 plays a conserved role in synaptic development and is a candidate gene for respiratory distress and ventilatory disorders that arise from defective neuronal control of breathing...
  86. ncbi The toppler mouse: a novel mutant exhibiting loss of Purkinje cells
    Cynthia S Duchala
    Department of Neurosciences, The Lerner Research Institute, NC30, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    J Comp Neurol 476:113-29. 2004
    ..Given the changes in both Purkinje cells and glia in toppler cerebellum, this may be a very useful model in which to investigate the developmental interaction of Purkinje cells and Bergmann glia...
  87. ncbi The invulnerability of adult neurons: a critical role for p73
    Gregory S Walsh
    Developmental Biology and Cancer Research, Hospital for Sick Children, Department of Medical Genetics, University of Toronto, Toronto, Ontario, Canada M5G 1X8
    J Neurosci 24:9638-47. 2004
    ..Thus, one way adult neurons become invulnerable is to enhance endogenous survival pathways, and one critical component of these survival pathways is p73...
  88. ncbi Functional equivalence of Brn3 POU-domain transcription factors in mouse retinal neurogenesis
    Ling Pan
    Center for Aging and Developmental Biology, University of Rochester, Rochester, NY 14642, USA
    Development 132:703-12. 2005
    ..These results indicate that Brn3 factors are functionally equal and that their unique roles in neurogenesis are determined by the distinctive Brn3 spatiotemporal expression patterns...
  89. ncbi Phosphorylation of c-Jun in avian and mammalian motoneurons in vivo during programmed cell death: an early reversible event in the apoptotic cascade
    Woong Sun
    Department of Anatomy, College of Medicine, Brain Korea 21, Korea University, Sungbuk Gu, Seoul, Korea 136 705
    J Neurosci 25:5595-603. 2005
    ..Together, c-Jun phosphorylation appears to be required for the initiation of an early and reversible event in the intracellular PCD cascade in vivo after loss of survival-promoting signals such as neurotrophic factors...
  90. ncbi Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum
    Mikio Hoshino
    Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Sakyo ku, Kyoto 606 8501, Japan
    Neuron 47:201-13. 2005
    ..Our results suggest that Ptf1a is involved in driving neural precursors to differentiate into GABAergic neurons in the cerebellum...
  91. pmc Tissue inhibitor of metalloproteinase-2(TIMP-2)-deficient mice display motor deficits
    Diane M Jaworski
    Department of Anatomy and Neurobiology, University of Vermont College of Medicine, Burlington, 05405, USA
    J Neurobiol 66:82-94. 2006
    ..The tissue specificity of the nerve branching phenotype suggests the involvement of different MMPs and/or extracellular matrix molecules underlying the TIMP-2(-/-) motor phenotype...
  92. ncbi The high and middle molecular weight neurofilament subunits regulate the association of neurofilaments with kinesin: inhibition by phosphorylation of the high molecular weight subunit
    Cheolwha Jung
    Center for Cellular Neurobiology and Neurodegeneration Research, Department of Biological Sciences, University of Massachusetts, Lowell, One University Avenue, Lowell, MA 01854, USA
    Brain Res Mol Brain Res 141:151-5. 2005
    ..They further indicate that phosphorylation of NF-H dissociates NFs from kinesin and provides a mechanism by which NF-H phosphorylation can contribute to the slowing of NF axonal transport...
  93. ncbi Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice
    Wenxue Tang
    Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 26:1991-9. 2006
    ..Our findings demonstrated the requirement of Cx29 for normal cochlear functions and suggest that Cx29 is a new candidate gene for studying the auditory neuropathy...
  94. pmc FAK is required for axonal sorting by Schwann cells
    Matthew Grove
    Centre for Neuroscience Research, University of Edinburgh, Edinburgh EH9 1QH, Scotland, UK
    J Cell Biol 176:277-82. 2007
    ..These findings demonstrate the vital relationship between axon defasciculation and Schwann cell number and show the importance of FAK in regulating cell proliferation in the developing nervous system...
  95. ncbi Numb and Numbl are required for maintenance of cadherin-based adhesion and polarity of neural progenitors
    Mladen Roko Rasin
    Department of Neurobiology, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06510, USA
    Nat Neurosci 10:819-27. 2007
    ..Thus, by regulating RGC adhesion and polarity, Numb and Numbl are required for the tissue architecture of neurogenic niches and the cerebral cortex...
  96. 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...
  97. pmc The EGFR is required for proper innervation to the skin
    Adel Maklad
    Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
    J Invest Dermatol 129:690-8. 2009
    ..These data demonstrate that EGFR is required for proper cutaneous innervation during development and suggest that it limits axonal outgrowth and branching in a DRG-autonomous manner...
  98. pmc Tbr2 directs conversion of radial glia into basal precursors and guides neuronal amplification by indirect neurogenesis in the developing neocortex
    Alessandro Sessa
    Molecular Neuropathology Laboratory, SCRI, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy
    Neuron 60:56-69. 2008
    ..Together, these findings identify Tbr2 as a critical factor for the specification of IPCs during corticogenesis...
  99. pmc RE1 silencing transcription factor is involved in regulating neuron-specific expression of alpha-internexin and neurofilament genes
    Gee Y Ching
    Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Neurochem 109:1610-23. 2009
    ..Thus, REST regulates expression of these neuronal genes, partly by a HDAC-dependent epigenetic mechanism...
  100. pmc Chemokine CXCL13 is essential for lymph node initiation and is induced by retinoic acid and neuronal stimulation
    Serge A van de Pavert
    Department of Molecular Cell Biology and Immunology, VU University Medical Center, Amsterdam, The Netherlands
    Nat Immunol 10:1193-9. 2009
    ..Therefore, our data show that the initiation of lymph node development is controlled by RA-mediated expression of CXCL13 and suggest that RA may be provided by adjacent neurons...
  101. pmc Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain
    Dmitry Goryunov
    Department of Pathology and Cell Biology, Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, NY, NY 10032, USA
    Mol Cell Neurosci 44:1-14. 2010
    ..Embryonic neurons showed a defect in traversing the cortical plate. Our data suggest a critical role for MACF1 in neuronal migration that is dependent on its ability to interact with both microfilaments and microtubules...

Research Grants1

  1. Molecular Regulation of TIMP-2 in Neuron Cell Cycle
    DIANE JAWORSKI; Fiscal Year: 2007
    ..abstract_text> ..