Neuromuscular junction defects in mice with mutation of dynein heavy chain 1

PLoS ONE

Volumn 6, Issue 2, 2011, Pages

  Courchesne, Stephanie L ^a,b,c   Pazyra Murphy, Maria F ^a,b   Lee, Daniel J ^a,b,d   Segal, Rosalind A ^a,b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; CYTOPLASMIC DYNEIN; DYNC1H1 PROTEIN, MOUSE;

ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BEHAVIOR DISORDER; BODY POSTURE; DISEASE COURSE; DYNEIN HEAVY CHAIN 1 GENE; GENE; GENE MUTATION; GRIP STRENGTH; MOTONEURON; MOUSE; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR SYNAPSE; NEUROPATHOLOGY; NONHUMAN; ONSET AGE; SENSORY NERVE CELL; SPINAL GANGLION; SYMPTOMATOLOGY; ANIMAL; DEGENERATIVE DISEASE; GENETICS; METABOLISM; MUTATION; NERVE FIBER; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

MUS;

ANIMALS; AXONS; BEHAVIOR, ANIMAL; CYTOPLASMIC DYNEINS; MICE; MUTATION; NEURODEGENERATIVE DISEASES; NEUROMUSCULAR JUNCTION; PHENOTYPE;

EID: 79951573512     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0016753     Document Type: Article

References (25)

1. Cosker KE, Courchesne SL, Segal RA, (2008) Action in the axon: generation and transport of signaling endosomes. Curr Opin Neurobiol 18: 270-275.
2. De Vos KJ, Grierson AJ, Ackerley S, Miller CC, (2008) Role of axonal transport in neurodegenerative diseases. Annu Rev Neurosci 31: 151-173.
3. Holzbaur EL, (2004) Motor neurons rely on motor proteins. Trends Cell Biol 14: 233-240.
4. Salinas S, Bilsland LG, Schiavo G, (2008) Molecular landmarks along the axonal route: axonal transport in health and disease. Curr Opin Cell Biol 20: 445-453.
5. LaMonte BH, Wallace KE, Holloway BA, Shelly SS, Ascano J, et al. (2002) Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34: 715-727.
6. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, et al. (2003) Mutant dynactin in motor neuron disease. Nat Genet 33: 455-456.
7. Chevalier-Larsen ES, Wallace KE, Pennise CR, Holzbaur EL, (2008) Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. Hum Mol Genet 17: 1946-1955.
8. Laird FM, Farah MH, Ackerley S, Hoke A, Maragakis N, et al. (2008) Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J Neurosci 28: 1997-2005.
9. Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, et al. (2003) Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 300: 808-812.
10. Ori-McKenney KM, Xu J, Gross SP, Vallee RB, (2010) A cytoplasmic dynein tail mutation impairs motor processivity. Nat Cell Biol 12: 1123-1249.
11. Dupuis L, Fergani A, Braunstein KE, Eschbach J, Holl N, et al. (2009) Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease. Exp Neurol 215: 146-152.
12. Ilieva HS, Yamanaka K, Malkmus S, Kakinohana O, Yaksh T, et al. (2008) Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death. Proc Natl Acad Sci U S A 105: 12599-12604.
13. Chen XJ, Levedakou EN, Millen KJ, Wollmann RL, Soliven B, et al. (2007) Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic dynein heavy chain 1 gene. J Neurosci 27: 14515-14524.
14. Fowler SC, Zarcone TJ, Chen R, Taylor MD, Wright DE, (2002) Low grip strength, impaired tongue force and hyperactivity induced by overexpression of neurotrophin-3 in mouse skeletal muscle. Int J Dev Neurosci 20: 303-308.
15. Oakley RA, Lefcort FB, Clary DO, Reichardt LF, Prevette D, et al. (1997) Neurotrophin-3 promotes the differentiation of muscle spindle afferents in the absence of peripheral targets. J Neurosci 17: 4262-4274.
16. Patel TD, Kramer I, Kucera J, Niederkofler V, Jessell TM, et al. (2003) Peripheral NT3 signaling is required for ETS protein expression and central patterning of proprioceptive sensory afferents. Neuron 38: 403-416.
17. Allen MJ, Shan X, Caruccio P, Froggett SJ, Moffat KG, et al. (1999) Targeted expression of truncated glued disrupts giant fiber synapse formation in Drosophila. J Neurosci 19: 9374-9384.
18. Eaton BA, Fetter RD, Davis GW, (2002) Dynactin is necessary for synapse stabilization. Neuron 34: 729-741.
19. Koushika SP, Schaefer AM, Vincent R, Willis JH, Bowerman B, et al. (2004) Mutations in Caenorhabditis elegans cytoplasmic dynein components reveal specificity of neuronal retrograde cargo. J Neurosci 24: 3907-3916.
20. Murphey RK, Caruccio PC, Getzinger M, Westgate PJ, Phillis RW, (1999) Dynein-dynactin function and sensory axon growth during Drosophila metamorphosis: A role for retrograde motors. Dev Biol 209: 86-97.
21. Wichterle H, Lieberam I, Porter JA, Jessell TM, (2002) Directed differentiation of embryonic stem cells into motor neurons. Cell 110: 385-397.
22. Cifuentes-Diaz C, Nicole S, Velasco ME, Borra-Cebrian C, Panozzo C, et al. (2002) Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet 11: 1439-1447.
23. Schmalbruch H, (1976) The morphology of regeneration of skeletal muscles in the rat. Tissue Cell 8: 673-692.
24. Valdez G, Tapia JC, Kang H, Clemenson GD Jr, Gage FH, et al. (2010) Attenuation of age-related changes in mouse neuromuscular synapses by caloric restriction and exercise. Proc Natl Acad Sci U S A 107: 14863-14868.
25. Braunstein KE, Eschbach J, Ròna-Vörös K, Soylu R, Mikrouli E, et al. (2010) A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons. Hum Mol Genet 19 (22): 4385-4398.