Cln8

Summary

Gene Symbol: Cln8
Description: ceroid-lipofuscinosis, neuronal 8
Alias: mnd, protein CLN8, motor neuron degeneration
Species: mouse

Top Publications

  1. ncbi Genetics of primary and timing effects in the mnd mouse
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health and Department of Biomedical Sciences, SUNY, USA
    Am J Med Genet 57:361-4. 1995
  2. ncbi Mutant mouse models of ALS
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany
    Neurobiol Aging 15:247-8. 1994
  3. ncbi Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease
    G Battaglioli
    Wadsworth Center for Laboratories and Research, New York State Department of Health, 12201 0509
    J Neurochem 60:1567-9. 1993
  4. ncbi Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis
    B Chang
    Jackson Laboratory, Bar Harbor, Maine
    Invest Ophthalmol Vis Sci 35:1071-6. 1994
  5. ncbi In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course
    M J Bennett
    Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center, Children s Medical Center of Dallas 75235, USA
    Neuropediatrics 28:82-4. 1997
  6. ncbi The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
    S Ranta
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Nat Genet 23:233-6. 1999
  7. ncbi TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
    Eitan Winter
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK OX1 3QX
    Trends Biochem Sci 27:381-3. 2002
  8. ncbi Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment
    J D Cooper
    Department of Neurology and Neurological Sciences and the Program in Neuroscience, Stanford University, Stanford, California 94305 5489, USA
    J Neurosci 19:2556-67. 1999
  9. ncbi Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse
    L M Callahan
    Department of Anatomy, Cell Biology and Neurobiology, Albany Medical College, NY 12208
    J Neuropathol Exp Neurol 50:491-504. 1991
  10. ncbi Autosomal dominance in a late-onset motor neuron disease in the mouse
    A Messer
    J Neurogenet 3:345-55. 1986

Scientific Experts

  • Liina Lonka
  • Annina Lyly
  • David N Palmer
  • P Bigini
  • J E Vance
  • Gail M Seigel
  • B Chang
  • Mervi Kuronen
  • Tiziana Mennini
  • S Ranta
  • P Ghezzi
  • J L Griffin
  • A Messer
  • Giacoma Galizzi
  • Rosetta Guarneri
  • Julia Kolikova
  • Caterina Cascio
  • Patrizia Guarneri
  • Domenica Russo
  • K Fujita
  • Kristy D Wendt
  • Steve K Cho
  • R T Bronson
  • J Plummer
  • M Bertamini
  • Eitan Winter
  • Valerie J Bolivar
  • J A Encinas
  • F Bihl
  • Ramil Afzalov
  • Leonard Khiroug
  • Alexander Surin
  • Anna Elina Lehesjoki
  • Irene Deidda
  • Gaspare Drago
  • Rosa Passantino
  • D Frey
  • J E Martin
  • S Boyce
  • J L Elliott
  • A Tanner
  • S L Green
  • N L Hawes
  • J D Cooper
  • J R Faust
  • M Ando
  • T Kato
  • J Li
  • Y Nagata
  • M Yamauchi
  • H Takahashi
  • David A Pearce
  • Gregory E Tullis
  • Sandra L Hofmann
  • Martin L Katz
  • Margaret E Ibe
  • Todd R Schachtman
  • Mark A Lehrman
  • Ningguo Gao
  • Bo Lei
  • M J Bennett
  • J C Porter
  • Stefania D'Agostino
  • B Marzani
  • D H Horvath
  • Chris P Ponting
  • P Guarneri
  • R Guarneri
  • F E Holmes
  • D Curti
  • Anne Messer
  • L Flaherty
  • N A Bermingham
  • J Scott Ganus
  • A Peterson
  • M B Lees
  • C Symonowicz
  • C E Seidman
  • J G Seidman
  • L Lariviere
  • S T Qureshi
  • V K Kuchroo
  • R A Sobel
  • H L Weiner
  • D Malo
  • C Schneider
  • J Borg
  • W Spooren
  • L Xu
  • P Caroni

Detail Information

Publications61

  1. ncbi Genetics of primary and timing effects in the mnd mouse
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health and Department of Biomedical Sciences, SUNY, USA
    Am J Med Genet 57:361-4. 1995
    The mnd mouse shows a spontaneous adult-onset hereditary neurological disease, with motor abnormality by 6 months of age, progressing to severe spastic paralysis and premature death...
  2. ncbi Mutant mouse models of ALS
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany
    Neurobiol Aging 15:247-8. 1994
  3. ncbi Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease
    G Battaglioli
    Wadsworth Center for Laboratories and Research, New York State Department of Health, 12201 0509
    J Neurochem 60:1567-9. 1993
    ..The role of synaptosomal glutamate uptake in the pathogenesis of motor neuron disease was studied in the Mnd mouse...
  4. ncbi Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis
    B Chang
    Jackson Laboratory, Bar Harbor, Maine
    Invest Ophthalmol Vis Sci 35:1071-6. 1994
    To evaluate the retinal degeneration of the motor neuron degeneration (mnd) mouse, and to confirm its inheritance pattern and gene location.
  5. ncbi In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course
    M J Bennett
    Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center, Children s Medical Center of Dallas 75235, USA
    Neuropediatrics 28:82-4. 1997
    We have studied the effects of polyunsaturated fatty acid (PUFA) supplementation in utero and throughout life in mnd mutant mice, a proposed model for juvenile neuronal ceroid lipofuscinosis (CLN-3)...
  6. ncbi The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
    S Ranta
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Nat Genet 23:233-6. 1999
    ..CLN8, conservation of the codon harbouring the human mutation and is localized to the same region as the motor neuron degeneration mouse, mnd, a naturally occurring mouse NCL (ref. 4)...
  7. ncbi TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
    Eitan Winter
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK OX1 3QX
    Trends Biochem Sci 27:381-3. 2002
    ..The family includes the protein product of CLN8, a gene mutated in progressive epilepsy with mental retardation...
  8. ncbi Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment
    J D Cooper
    Department of Neurology and Neurological Sciences and the Program in Neuroscience, Stanford University, Stanford, California 94305 5489, USA
    J Neurosci 19:2556-67. 1999
    ..The mnd/mnd mutant mouse was first characterized as exhibiting adult-onset upper and lower motor neuron degeneration, but closer examination revealed early, widespread pathology similar to that seen in NCL...
  9. ncbi Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse
    L M Callahan
    Department of Anatomy, Cell Biology and Neurobiology, Albany Medical College, NY 12208
    J Neuropathol Exp Neurol 50:491-504. 1991
    b>Motor neuron degeneration (Mnd) is a genetic neurodegenerative disease of the mouse that is characterized by a progressive increase in motor dysfunction, moving from hind to fore limbs, leading to paralysis...
  10. ncbi Autosomal dominance in a late-onset motor neuron disease in the mouse
    A Messer
    J Neurogenet 3:345-55. 1986
    ..In outcrosses to wild-type, symptoms have been observed in all obligate heterozygotes, with a similar age range for onset to that of homozygotes. We have designated this autosomal dominant disorder Motor neuron degeneration (Mnd).
  11. ncbi Spinal cord GLT-1 glutamate transporter and blood glutamic acid alterations in motor neuron degeneration (Mnd) mice
    T Mennini
    Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy
    J Neurol Sci 157:31-6. 1998
    This study characterizes for the first time neurochemical mechanisms in Mnd mice, initially described as a model of motor neuron disease and more recently proposed as a model for neuronal ceroid lipofuscinosis...
  12. ncbi Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
    R T Bronson
    Jackson Laboratory, Bar Harbor, ME 04609 0800
    Ann Neurol 33:381-5. 1993
    Pathological studies of mice homozygous for the motor neuron degeneration (Mnd) mutation show abnormalities similar to those of the human neuronal ceroid lipofuscinoses: sudanophilic, autofluorescent intraneuronal inclusions that are ..
  13. ncbi Expression of glutamate receptor subtypes in the spinal cord of control and mnd mice, a model of motor neuron disorder
    Tiziana Mennini
    Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy
    J Neurosci Res 70:553-60. 2002
    We studied the expression and distribution of glutamate receptor subtypes in the spinal cord of mnd mice, a model of motor neuron disorders and neuronal ceroid lipofuscinosis, and control mice using immunocytochemistry and in situ ..
  14. ncbi Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
    Liina Lonka
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    J Neurosci Res 76:862-71. 2004
    ..Mutations in the CLN8 gene underlie Northern epilepsy (progressive epilepsy with mental retardation [EPMR], OMIM 600143) and a subset of ..
  15. ncbi Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd) mouse. I. Light microscopic analysis
    J E Mazurkiewicz
    Department of Anatomy, Cell Biology and Neurobiology, Albany Medical College, NY 12208
    J Neurol Sci 116:59-66. 1993
    The motor neuron degeneration (Mnd) mutation in the mouse is a late onset, autosomal dominant, neurodegenerative disease in which ventral horn neurons have been shown to contain numerous, large cytoplasmic inclusions...
  16. ncbi Accumulating autofluorescent material as a marker for early changes in the spinal cord of the Mnd mouse
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany 12201 0509
    Neuromuscul Disord 3:129-34. 1993
    The mouse mutant Motor neuron degeneration (Mnd) displays an adult-onset progressive degeneration of upper and lower motor neurons, with mild symptoms recognizable at 6 months, leading to spastic paralysis and premature death at 10-12 ..
  17. ncbi Retinal degeneration in motor neuron degeneration (mnd) mutant mice
    A Messer
    Exp Eye Res 57:637-41. 1993
  18. doi NCL disease mechanisms
    David N Palmer
    Department of Wine, Food and Molecular Biosciences, Faculty of Agricultural and Life Sciences, Lincoln University, PO Box 85084, Lincoln 7647, Christchurch, New Zealand Electronic address
    Biochim Biophys Acta 1832:1882-93. 2013
    ..This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. ..
  19. pmc Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
    Annina Lyly
    National Institute for Health and Welfare THL, Biomedicum Helsinki, Finland and FIMM, Institute for Molecular Medicine in Finland
    BMC Cell Biol 10:83. 2009
    ..Here, we have studied molecular interactions between NCL proteins, concentrating specifically on the interactions of CLN5, the protein underlying the Finnish variant late infantile form of NCL (vLINCLFin)...
  20. doi Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis
    Julia Kolikova
    Neuroscience Center, University of Helsinki, Finland
    Cell Calcium 50:491-501. 2011
    ..fluorescence imaging and caged Ca(2+) photolysis, we evaluated the mechanisms of neuronal Ca(2+) clearance in Cln8(mnd) mice, a model of the human NCL caused by mutations in the CLN8 gene...
  21. doi Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mouse
    Paolo Bigini
    Department of Biochemistry and Molecular Pharmacology, Mario Negri Institute for Pharmacological Research, Milano, Italy
    J Neurosci Res 90:1148-58. 2012
    ..The mnd mouse, carrying a mutation in the Cln8 gene, has been proposed as a model of epilepsy with mental retardation (EPMR, ornorthern epilepsy)...
  22. doi Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation
    M Kuronen
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Neuropathol Appl Neurobiol 38:471-86. 2012
    b>CLN8 deficiency underlies one of a group of devastating childhood neurodegenerative disorders, the neuronal ceroid lipofuscinoses. The function of the CLN8 protein is currently unknown, but a role in lipid metabolism has been proposed...
  23. doi Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice
    Mervi Kuronen
    Folkhalsan Institute of Genetics, Haartmaninkatu 8, Helsinki, Finland
    Neurobiol Dis 47:444-57. 2012
    ..Here, we have characterized the timing and regional-specificity of the pathological events of CLN8 disease utilizing the Cln8 deficient mouse model, Cln8(mnd)...
  24. ncbi Onset and progression of motor deficits in motor neuron degeneration (mnd) mice are unaltered by the glycine/NMDA receptor antagonist L-701,324 or the MAO-B inhibitor R(-)-deprenyl
    S Boyce
    Neuroscience Research Centre, Merck Sharp and Dohme Research Laboratories, Terlings Park, Harlow, Essex, CM20 2QR, UK
    Exp Neurol 155:49-58. 1999
    ..oxidase B inhibitor (r)-deprenyl on the onset and rate of progression of neurological impairment in the motor neuron degeneration (mnd) mouse, a murine model of neurodegeneration...
  25. ncbi Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease
    Steve K Cho
    Department of Internal Medicine and Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Glycobiology 15:637-48. 2005
    ..and found striking lipid-linked oligosaccharide (LLO) accumulation in NCL mouse models (especially CLN1, CLN6, and CLN8 knockout or mutant mice) but not in several other lysosomal storage disorders affecting the brain...
  26. ncbi Experimental models of amyotrophic lateral sclerosis
    J L Elliott
    Department of Neurology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas, 75235, USA
    Neurobiol Dis 6:310-20. 1999
    ..Recently, however, a variety of newer model systems have been developed and utilized to investigate motor neuron degeneration as related to ALS. For example, in this issue, Corse et al...
  27. ncbi Animal models for motor neuron disease
    S L Green
    Department of Comparative Medicine, Stanford University School of Medicine, California, USA
    Lab Anim Sci 49:480-7. 1999
    ..Animal models of motor neuron disease (MND) have significantly contributed to the remarkable recent progress in understanding the cause, genetic factors, and ..
  28. ncbi Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases
    D Frey
    Friedrich Miescher Institute, CH 4058 Basel, Switzerland
    J Neurosci 20:2534-42. 2000
    ....
  29. ncbi Identification of genetic loci associated with paralysis, inflammation and weight loss in mouse experimental autoimmune encephalomyelitis
    J A Encinas
    Center for Neurologic Diseases, Department of Medicine, Brigham and Women s Hospital, Boston, MA USA
    Int Immunol 13:257-64. 2001
    ..2 x 10(-6)) and the incidence of CNS inflammation (P = 7.0 x 10(-5)) in EAE...
  30. ncbi LPS-hyporesponsiveness of mnd mice is associated with a mutation in Toll-like receptor 4
    F Bihl
    Department of Human Genetics, Centre for the Study of Host Resistance, Montreal General Hospital, Quebec, Canada
    Genes Immun 2:56-9. 2001
    ..In this paper, we report that C57BL/6.KB2-mnd mice, a model of neuronal ceroid lipofuscinosis, do not respond to LPS...
  31. ncbi Retinal degeneration mutants in the mouse
    B Chang
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA
    Vision Res 42:517-25. 2002
    ..pcd); nervous (nr); retinal degeneration slow (rds, now Prph(Rd2)); retinal degeneration 3 (rd3); motor neuron degeneration (mnd); retinal degeneration 4 (Rd4); retinal degeneration 5 (rd5, now tub); vitiligo (vit, now Mitf(mi-..
  32. ncbi The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse
    Valerie J Bolivar
    Wadsworth Center, New York State Department of Health, David Axelrod Institute, 120 New Scotland Avenue, P O Box 22002, Albany, NY 12201, USA
    Brain Res 937:74-82. 2002
    The motor neuron degeneration (mnd) mouse, which has widespread abnormal accumulating lipoprotein and neuronal degeneration, has a mutation in CLN8, the gene for human progressive epilepsy with mental retardation (EPMR)...
  33. ncbi Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics
    J L Griffin
    Biological Chemistry, Biomedical Sciences, Faculty of Medicine, Imperial College of Science, Technology and Medicine, London SW7 2AZ
    Physiol Genomics 11:195-203. 2002
    The mnd mouse, a model of neuronal ceroid lipofusinosis (NCL), has a profound vitamin E deficiency in sera and brain, associated with cerebral deterioration characteristic of NCL...
  34. ncbi Mitochondrial oxidative metabolism in motor neuron degeneration (mnd) mouse central nervous system
    M Bertamini
    Department of Molecular and Cellular Physiological and Pharmacological Sciences, University of Pavia, Piazza Botta 11, 27100 Pavia, Italy
    Eur J Neurosci 16:2291-6. 2002
    The mnd mouse spontaneously develops slowly evolving motoneuron pathology leading to progressive motor impairment...
  35. ncbi Glial activation and TNFR-I upregulation precedes motor dysfunction in the spinal cord of mnd mice
    Tiziana Mennini
    Department Molecular Biochemistry and Pharmacology, Mario Negri Institute for Pharmacological Research, Via Eritrea, 62, 20157, Milan, Italy
    Cytokine 25:127-35. 2004
    Mice homozygous for the spontaneous motor neuron degeneration mutation (mnd) show at the age of 8 months a marked impairment of the motor function and accumulation of lipofuscin granules in the cytoplasm of almost all neurons of the ..
  36. doi Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis
    Giacoma Galizzi
    CNR Institute of Biomedicine and Molecular Immunology, Neuroscience Unit, Via Ugo La Malfa 153, 90146 Palermo, Italy
    Neurosci Lett 488:258-62. 2011
    ..In the motor neuron degeneration (mnd) mouse model of the CLN8-LINCL (CLN8(mnd)), we carried out an analysis of ER stress-related ..
  37. ncbi Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis
    Rosetta Guarneri
    Istituto di Biomedicina e Immunologia Molecolare, I B I M C N R, Via Ugo La Malfa 153, Palermo 90146, Italy
    Brain Res 1014:209-20. 2004
    ..We here used the mutant motor neuron degeneration (mnd) mouse, a late-infantile NCL variant, to investigate the retinal oxidative state and apoptotic cell ..
  38. ncbi Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis
    G M Seigel
    Department of Ophthalmology, Ross Eye Institute, Physiology and Biophysics, University at Buffalo SUNY, Buffalo, NY 14214, USA
    Eye (Lond) 19:1306-12. 2005
    ..CNS target affected in NCL and could serve as a means to assess early disease progression as well as potential therapeutic responses, we followed the course of postnatal retinal pathology in tissues from the CLN8 (mnd) mouse model of NCL.
  39. ncbi Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze
    Kristy D Wendt
    University of Missouri School of Medicine, Mason Eye Institute, One Hospital Drive, Columbia, MO 65212, USA
    Behav Brain Res 161:175-82. 2005
    ..Murine models for the neuronal ceroid lipofuscinoses include the well-characterized motor neuron degeneration (mnd/mnd) model for one variant of late infantile NCL (CLN8), and the more recently generated models for ..
  40. pmc The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy
    Liina Lonka
    Neuroscience Center, University of Helsinki, Finland
    BMC Neurosci 6:27. 2005
    ..The human phenotype is characterized by epilepsy, progressive psychomotor deterioration and visual loss, while motor neuron degeneration (mnd) mice with a Cln8 mutation show progressive motor neuron dysfunction and retinal degeneration.
  41. ncbi The mouse lysosomal membrane protein 1 gene as a candidate for the motorneuron degeneration (mnd) locus
    N A Bermingham
    Department of Biochemistry and Molecular Genetics, Imperial College of Medicine at St Mary s, London, UK
    Genomics 32:266-71. 1996
    The motorneuron degeneration (mnd) mutation causes one of the few late-onset progressive neurodegenerations in mice; therefore, the mnd mouse is a valuable paradigm for studying neurodegenerative biology...
  42. ncbi Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS)
    A Messer
    Wadsworth Center for Laboratories and Research, New York State Department of Health
    Genomics 13:797-802. 1992
    The motor neuron degeneration mutation (Mnd) causes a late-onset, progressive degeneration of upper and lower motor neurons in mice...
  43. ncbi Ubiquitin deposits are present in spinal motor neurons in all stages of the disease in the motor neuron degeneration (Mnd) mutant of the mouse
    J E Mazurkiewicz
    Department of Anatomy, Cell Biology and Neurobiology, Albany Medical College, NY 12208
    Neurosci Lett 128:182-6. 1991
    ..antibodies to ubiquitin were used in an immunocytochemical analysis of spinal cord from the Mnd (motor neuron degeneration) mouse, an animal model for motor neuron disease...
  44. ncbi Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9
    A Tanner
    Department of Physiology, Tufts University School of Medicine, Boston, MA 02111, USA
    Cell Biol Int 19:71-5. 1995
    ..However, the exact growth state of the human fibroblasts was critical, and this factor probably accounts for discrepencies in the literature...
  45. ncbi (-)-Deprenyl alters the survival of adult murine facial motoneurons after axotomy: increases in vulnerable C57BL strain but decreases in motor neuron degeneration mutants
    C Oh
    Department of Physiology, University of Toronto, Ontario, Canada
    J Neurosci Res 38:64-74. 1994
    ..three different strains of adult mice--A/J, C57BL/6J, and a congenic substrain of the C57BL/6J mice, the C57BL/Mnd mutants--underwent unilateral facial nerve transection...
  46. ncbi Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis
    J R Faust
    Department of Physiology, Tufts University School of Medicine, Boston, Massachusetts 02111
    J Biol Chem 269:10150-5. 1994
    ..study, we show that two biochemical markers of neuronal ceroid lipofuscinoses (NCLs) are present in a mutant mouse (mnd/mnd) that exhibits symptoms of the disease...
  47. pmc Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis
    C A Pardo
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2196
    Am J Pathol 144:829-35. 1994
    The motor neuron degeneration (mnd) mutant mouse, initially described as an autosomal semidominant model of motor neuron disease, is characterized by progressive loss of motor activities and the accumulation of lipofuscin-like material ..
  48. ncbi Probable exclusion of the cortexin-encoding gene as a candidate for mouse neurological mutants: nervous, tottering and motor neuron degeneration
    D H Horvath
    Department of Psychiatry, UT Southwestern Medical Center, Dallas, TX 75235 9111, USA
    Gene 171:305-6. 1996
    ..for the mouse neurological mutants: nervous (nr), tottering (tg) plus tottering-leaner (tgla), and motor neuron degeneration (mnd) by Northern blot analysis of brain poly(A)+ RNA and direct polymerase chain reaction (PCR) ..
  49. ncbi Accelerated and widespread neuronal loss occurs in motor neuron degeneration (mnd) mice expressing a neurofilament-disrupting transgene
    J Plummer
    Wadsworth Center for Labs and Research, New York State Department of Health, Albany, New York 12201, USA
    Mol Cell Neurosci 6:532-43. 1995
    ..ubiquitous accumulation of autofluorescent lipopigment, with retinal degeneration and late-onset motor neuron degeneration. The neurofilament H-beta-galactosidase fusion protein causes endogenous neurofilament subunits to ..
  50. ncbi Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes
    N L Hawes
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Mol Vis 5:22. 1999
    ..The purpose of this work was to develop procedures for mouse fundus photography and angiography and to use these techniques to examine several new mouse strains with ocular abnormalities...
  51. ncbi Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant
    F E Holmes
    School of Biological Sciences, University of Bristol, UK
    Neurosci Lett 213:185-8. 1996
    We have investigated the activity of the Ca(2+)-dependent apoptosis-related transglutaminase type 2 in the mnd/mnd mouse mutant...
  52. ncbi Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis
    J E Vance
    Lipid and Lipoprotein Research Group, University of Alberta, Edmonton, Canada
    Biochim Biophys Acta 1344:286-99. 1997
    ..Biol. Chem. 270, 11190-11198). We have now examined further the role of MAM in lipid metabolism using the mnd/mnd mouse, a model for the human degenerative disease neuronal ceroid lipofuscinosis...
  53. ncbi The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts
    J C Porter
    Department of Pediatrics, Albany Medical College, New York 12208, USA
    Mol Cell Neurosci 9:185-93. 1997
    In motor neuron degeneration (mnd/mnd) mice, multiple cell types develop cytopathology and motor neurons degenerate prematurely...
  54. ncbi Altered gene expression for calpain/calpastatin system in motor neuron degeneration (Mnd) mutant mouse brain and spinal cord
    J Li
    Mailman Research Center, McLean Hospital, Belmont, MA 02178, USA
    Brain Res Mol Brain Res 53:174-86. 1998
    ..the in situ mRNA expression of calpain I and II and their endogenous inhibitor, calpastatin, in the motor neuron degeneration (Mnd) mutant mouse, which exhibits progressive dysfunction of the spinal cord and brain...
  55. ncbi Increase of glial fibrillary acidic protein fragments in the spinal cord of motor neuron degeneration mutant mouse
    K Fujita
    Department of Physiology, School of Medicine, Toyoake, Aichi 470 11, Japan
    Brain Res 785:31-40. 1998
    We analyzed protein fractions extracted from the spinal cord of the motor neuron degeneration (Mnd) mouse, a mutant that exhibits progressive degeneration of lower spinal motor neurons, by one- and two-dimensional polyacrylamide gel ..
  56. ncbi Alteration of enzymatic activities implicating neuronal degeneration in the spinal cord of the motor neuron degeneration mouse during postnatal development
    K Fujita
    Department of Physiology, School of Medicine, Fujita Health University, Toyoake, Aichi, Japan
    Neurochem Res 23:557-62. 1998
    ..CO), superoxide dismutase (SOD), and transglutaminase (TG) in spinal cord of an animal model of ALS, motor neuron degeneration (Mnd) mouse, a mutant that exhibits progressive degeneration of lower spinal neurons during ..
  57. ncbi Tumor necrosis factor is increased in the spinal cord of an animal model of motor neuron degeneration
    P Ghezzi
    Mario Negri Institute for Pharmacological Research, Milano, Italy
    Eur Cytokine Netw 9:139-44. 1998
    ..encephalomyelitis, and can be neurotoxic, we studied TNF production in a proposed animal model of ALS, the mnd mouse. These mice develop symptoms (progressive weakness of the limbs) as late as at 7 months of age...
  58. ncbi Peripheral macrophage abnormalities in mutant mice with spinocerebellar degeneration
    A Bakalian
    Institut des Neurosciences, CNRS URA1199, Paris, France
    Res Immunol 143:129-39. 1992
    ..phenomenon was found, but to a lesser extent, in the spinal mutants dystonia musculorum, wobbler and motor neuron degeneration. On the contrary, no hyperexpression of IL1 beta mRNA was found in non-genetic models of neuronal ..
  59. ncbi An early-onset congenic strain of the motor neuron degeneration (mnd) mouse
    A Messer
    Wadsworth Center, New York State Department of Health, Albany, New York 12201, USA
    Mol Genet Metab 66:393-7. 1999
    The mouse mutant motor neuron degeneration (mnd/mnd) has been proposed as a model of neuronal ceroid lipofuscinosis (NCL) on the basis of widespread abnormal accumulating lipopigment and neuronal and retinal degeneration...
  60. ncbi Biochemical and pharmacological evidence of a functional role of AMPA receptors in motor neuron dysfunction in mnd mice
    T Mennini
    Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy
    Eur J Neurosci 11:1705-10. 1999
    ..rs)-alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor antagonist, in the spinal cord of mnd mice. NBQX (8 mg/kg daily i.p...
  61. ncbi Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9
    R T Bronson
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Am J Med Genet 77:289-97. 1998
    ..The first murine form of NCL, the motor neuron degeneration (mnd) mouse, has been described and mapped to proximal Chromosome 8...