The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts

Molecular and Cellular Neurosciences

Volumn 9, Issue 3, 1997, Pages 185-193

  Porter, Joanne C ^a   Messer, Anne ^b,c   Peterson, Alan ^d  

^a ALBANY MEDICAL COLLEGE   (United States)

^b WADSWORTH CENTER   (United States)

^c STATE UNIVERSITY OF NEW YORK   (United States)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CHIMERA; GENE EXPRESSION REGULATION; GENE MUTATION; GENOTYPE; MOTONEURON; MOUSE; NERVE DEGENERATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST;

ANIMALIA;

EID: 0030792844     PISSN: 10447431     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcne.1997.0617     Document Type: Article

References (40)

1. Cell. 82:1995;949-957.
2. Bou-Gharios G., Abraham D., Olsen I. Lysosomal storage diseases: Mechanisms of enzyme replacement therapy. Histochem. J. 25:1993;593-605.
3. Callahan L. M., Wylen E. L., Messer A., Mazurkiewicz J. E. Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse. J. Neuropathol. Exp. Neurol. 50:1991;491-504.
4. Campbell R. M., Peterson A. C. An intrinsic neuronal defect operates indystonia musculorum:dt/dt. Neuron. 9:1992;693-703.
5. Dal Canto M. C., Gurney M. E. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am. J. Pathol. 145:1994;1271-1279.
6. Fearnley J. M., Walker J. E., Martinus R. D., Jolly R. D., Kirkland K. B., Shaw J., Palmer D. N. The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Biochem. J. 268:1990;751-758.
7. Freshney R. I. Culture of Animal Cells: A Manual of Basic Technique. 1994;Wiley-Liss, New York.
8. Gurney M. E., Pu H., Chiu A. Y., Dal Canto M. C., Polchow C. Y., Alexander D. D., Caliendo J., Hentati A., Kwon Y. W., Deng H.-X., Chen W., Zhai P., Sufit R. L., Siddique T. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science. 264:1994;1772-1775.
9. Herrup K., Mullen R. J. Staggerer chimeras: Intrinsic nature of Purkinje cell defects and implications for normal cerebellar development. Brain Res. 178:1979;443-457.
10. Hoogerbrugge P. M., Brouwer O. F., Bordigoni P., Ringden O., Kapaun P., Ortega J. J., O'Meara A., Cornu G., Souillet G., Frappaz D. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. 345:1995;1398-1402.
11. Hosain S., Kaufmann W. E., Negrin G., Watkins P. A., Siakotos A. N., Palmer D. N., Naidu S. Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods. Am. J. Med. Genet. 57:1995;239-245.
12. Jolly R. D., Martinus R. D., Palmer D. N. Sheep and other animals with ceroid-lipofuscinoses: Their relevance to Batten disease. Am. J. Med. Genet. 42:1992;609-614.
13. Jolly R. D. Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): An overview. Am. J. Med. Genet. 57:1995;307-311.
14. Julien J., Tretjaloff I., Beaudet L., Peterson A. Expression and assembly of a human neurofilament protein in transgenic mice provide a novel neuronal marking system. Genes Dev. 1:1987;1085-1095.
15. Kida E., Wisniewski K. E., Golabek A. A. Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. Neurosci. Lett. 164:1993;121-124.
16. Kominami E., Ezaki J., Muno D., Ishido K., Ueno T., Wolfe L. S. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). J. Biochem. 111:1992;278-282.
17. Lake B. D., Henderson D. C., Oakhill A., Vellodi A. Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease. Am. J. Med. Genet. 57:1995;369-373.
18. Lee V. M., Carden M. J., Schlaepfer W. W. Structural similarities and differences between neurofilament proteins from five different species as revealed using monoclonal antibodies. J. Neurosci. 6:1986;2179-2186.
19. Love S., Nicoll J. A. R. Annotation. The polymerase chain reaction and its applications in neuropathology. Neuropathol. Appl. Neurobiol. 18:1992;95-111.
20. Maisonpierre P., Le Breu M., Espinsosa R., Ip N., Belluscio L., De La Monte S., Squinto S., Furth M., Yancopoulos G. Human and rat brain-derived neurotrophic factor and neurotrophin-3: Gene structures, distributions, and chromosomal localizations. Genomics. 10:1991;558-568.
21. Mazurkiewicz J. E., Callahan L. M., Swash M., Martin J. E., Messer A. Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd. J. Neurol. Sci. 116:1993;59-66.
22. Messer A., Maskin P., Mazurkiewicz J. E. Effects of using a chemically defined medium for primary rat monolayer cerebellar cultures: Morphology, GABA uptake and kainic acid sensitivity. Brain Res. 184:1980;243-247.
23. Messer A., Strominger N. L., Mazurkiewicz J. E. Histopathology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse. J. Neurogenet. 4:1987;201-213.
24. Messer A., Plummer J., Maskin P., Coffin J. M., Frankel W. N. Mapping of the motor neuron degeneration (Mnd. Genomics. 14:1992;797-802.
25. Messer A., Plummer J., Wong V., LaVail M. M. Retinal degeneration in motor neuron degeneration (mnd) mutant mice. Exp. Eye Res. 57:1993;637-641.
26. Messer A., Plummer J., MacMillen M. C., Frankel W. N. Genetics of primary and timing effects in the mnd mouse. Am. J. Med. Genet. 57:1995;361-364.
27. Messer A., Flaherty L. Autosomal dominance in a late onset motor neuron disease in the mouse. J. Neurogenet. 3:1986;345-355.
28. Messer A., Plummer J. Accumulating autofluorescent material as a marker for early changes in the spinal cord of the Mnd mouse. Neuromusc. Disord. 3:1993;129-134.
29. Mullen R. J. Site of pcd gene action and Purkinje cell mosaicism in cerebella of chimaeric mice. Nature. 270:1977;245-247.
30. Nardocci N., Verga M. L., Binelli S., Zorzi G., Angelini L., Bugiani O. Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients. Am. J. Med. Genet. 57:1995;137-141.
31. Packer R. J. Diagnosis and treatment of pediatric brain tumors. Curr. Opin. Neurol. 7:1994;484-491.
32. Palmer D. N., Fearnley I. M., Walker J. E., Hall N. A., Lake B. D., Wolfe L. S., Haltia M., Martinus R. D., Jolly R. D. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am. J. Med. Genet. 42:1992;561-567.
33. Palmer D. N., Bayliss S. L., Westlake V. J. Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c. Am. J. Med. Genet. 57:1995;260-265.
34. Palmer D. N., Hay J. M. The neuronal ceroid lipofuscinoses (Batten disease) - A group of lysosomal proteinoses. Adv. Exp. Med. Biol. 389:1996;129-136.
35. Pardo C. A., Rabin B. A., Palmer D. N., Price D. L. Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse: A model for neuronal ceroid lipofuscinosis. Am. J. Pathol. 144:1994;829-835.
36. Plummer J., Peterson A., Messer A. Accelerated and widespread neuronal loss occurs inmotor neuron degenerationmnd. Mol. Cell. Neurosci. 6:1995;532-543.
37. Rosen D. R., Siddique T., Patterson D., Figlewicz D. A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J. P., Deng H.-X., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S. M., Berger R., Tanzi R. E., Halperin J. J., Herzfeldt B., Van den Bergh R., Hung W.-Y., Bird T., Deng G., Mulder D. W. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 362:1993;59-62.
38. Vesa J., Hellsten E., Verkruyse L. A., Camp L. A., Rapola J., Santavuori P., Hofmann S. L., Peltonen L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 376:1995;584-587.
39. Westlake V. J., Jolly R. D., Jones B. R., Mellor D. J., Machon R., Zanjani E. D., Krivit W. Hematopoietic cell transplantation in fetal lambs with ceroid-lipofuscinosis. Am. J. Med. Genet. 57:1995;365-368.
40. Wisniewski K. E., Rapin I., Heaney-Kieras J. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Am. J. Med. Genet. 5:1995;27-46.