Gamma-synuclein pathology in amyotrophic lateral sclerosis

Annals of Clinical and Translational Neurology

Volumn 2, Issue 1, 2015, Pages 29-37

  Peters, Owen M ^a,e   Shelkovnikova, Tatyana ^a   Highley, John Robin ^b   Cooper Knock, Johnathan ^b   Hortobágyi, Tibor ^c,f   Troakes, Claire ^c   Ninkina, Natalia ^a,d   Buchman, Vladimir L ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d INSTITUTE OF GENERAL PATHOLOGY AND PATHOPHYSIOLOGY   (Russian Federation)

^e UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

GALECTIN 3; GAMMA SYNUCLEIN; MAC 2; PEPTIDES AND PROTEINS; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEMENTIA; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; WESTERN BLOTTING;

EID: 85019528779     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.143     Document Type: Article

References (29)

1. Shibata N, Hirano A, Kobayashi M, et al. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 1996;55:481-490.
2. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
3. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-1208.
4. Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009;323:1208-1211.
5. Hirano A, Donnenfeld H, Sasaki S, Nakano I. Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1984;43:461-470.
6. Hortobagyi T, Troakes C, Nishimura AL, et al. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol 2011;121:519-527.
7. Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465:223-226.
8. Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011;477:211-215.
9. Ash PE, Bieniek KF, Gendron TF, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013;77:639-646.
10. Mori K, Weng SM, Arzberger T, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013;339:1335-1338.
11. Bendotti C, Atzori C, Piva R, et al. Activated p38MAPK is a novel component of the intracellular inclusions found in human amyotrophic lateral sclerosis and mutant SOD1 transgenic mice. J Neuropathol Exp Neurol 2004;63:113-119.
12. Kato T, Kurita K, Seino T, et al. Galectin-1 is a component of neurofilamentous lesions in sporadic and familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2001;282:166-172.
13. Nakamura M, Ito H, Wate R, et al. Phosphorylated Smad2/3 immunoreactivity in sporadic and familial amyotrophic lateral sclerosis and its mouse model. Acta Neuropathol 2008;115:327-334.
14. Collins M, Riascos D, Kovalik T, et al. The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. Acta Neuropathol 2012;124:717-732.
15. Shelkovnikova TA, Robinson HK, Troakes C, et al. Compromised paraspeckle formation as a pathogenic factor in FUSopathies. Hum Mol Genet 2014;23:2298-2312.
16. Biere AL, Wood SJ, Wypych J, et al. Parkinson's disease-associated alpha-synuclein is more fibrillogenic than beta- and gamma-synuclein and cannot cross-seed its homologs. J Biol Chem 2000;275:34574-34579.
17. Marsh JA, Singh VK, Jia Z, Forman-Kay JD. Sensitivity of secondary structure propensities to sequence differences between alpha- and gamma-synuclein: implications for fibrillation. Protein Sci 2006;15:2795-2804.
18. Ninkina N, Peters O, Millership S, et al. Gamma-synucleinopathy: neurodegeneration associated with overexpression of the mouse protein. Hum Mol Genet 2009;18:1779-1794.
19. Buchman VL, Hunter HJ, Pinon LG, et al. Persyn, a member of the synuclein family, has a distinct pattern of expression in the developing nervous system. J Neurosci 1998;18:9335-9341.
20. Buchman VL, Adu J, Pinon LG, et al. Persyn, a member of the synuclein family, influences neurofilament network integrity. Nat Neurosci 1998;1:101-103.
21. Ninkina N, Papachroni K, Robertson DC, et al. Neurons expressing the highest levels of gamma-synuclein are unaffected by targeted inactivation of the gene. Mol Cell Biol 2003;23:8233-8245.
22. Galvin JE, Giasson B, Hurtig HI, et al. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology. Am J Pathol 2000;157:361-368.
23. Galvin JE, Uryu K, Lee VM, Trojanowski JQ. Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains alpha-, beta-, and gamma-synuclein. Proc Natl Acad Sci USA 1999;96:13450-13455.
24. Surgucheva I, McMahan B, Ahmed F, et al. Synucleins in glaucoma: implication of gamma-synuclein in glaucomatous alterations in the optic nerve. J Neurosci Res 2002;68:97-106.
25. Peters OM, Millership S, Shelkovnikova TA, et al. Selective pattern of motor system damage in gamma-synuclein transgenic mice mirrors the respective pathology in amyotrophic lateral sclerosis. Neurobiol Dis 2012;48:124-131.
26. Ninkina NN, Alimova-Kost MV, Paterson JW, et al. Organization, expression and polymorphism of the human persyn gene. Hum Mol Genet 1998;7:1417-1424.
27. Ninkina N, Peters OM, Connor-Robson N, et al. Contrasting effects of alpha-synuclein and gamma-synuclein on the phenotype of cysteine string protein alpha (CSPalpha) null mutant mice suggest distinct function of these proteins in neuronal synapses. J Biol Chem 2012;287:44471-44477.
28. Nguyen JV, Soto I, Kim KY, et al. Myelination transition zone astrocytes are constitutively phagocytic and have synuclein dependent reactivity in glaucoma. Proc Natl Acad Sci USA 2011;108:1176-1181.
29. Zhou JY, Afjehi-Sadat L, Asress S, et al. Galectin-3 is a candidate biomarker for amyotrophic lateral sclerosis: discovery by a proteomics approach. J Proteome Res 2010;9:5133-5141.