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Volumn 10, Issue 1-4, 2012, Pages 195-202

Mutant GBA1 expression and synucleinopathy risk: First insights from cellular and mouse models

Author keywords

Synuclein; Dementia with Lewy bodies; Gaucher disease; GBA1; Glucocerebrosidase; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; GLUCOSYLCERAMIDASE;

EID: 84860216725     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000335038     Document Type: Article
Times cited : (23)

References (32)
  • 1
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a 'simple' disorder
    • Sidransky E: Gaucher disease: complexity in a 'simple' disorder. Mol Genet Metab 2004; 83: 6-15.
    • (2004) Mol. Genet. Metab. , vol.83 , pp. 6-15
    • Sidransky, E.1
  • 2
    • 53049096591 scopus 로고    scopus 로고
    • Phenotype, diagnosis, and treatment of Gaucher's disease
    • Grabowski GA: Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008; 372: 1263-1271.
    • (2008) Lancet , vol.372 , pp. 1263-1271
    • Grabowski, G.A.1
  • 3
    • 77954933661 scopus 로고    scopus 로고
    • The role of glucocerebrosidase mutations in parkinson disease and lewy body disorders
    • Velayati A, Yu WH, Sidransky E: The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010; 10: 190-198.
    • (2010) Curr. Neurol. Neurosci. Rep. , vol.10 , pp. 190-198
    • Velayati, A.1    Yu, W.H.2    Sidransky, E.3
  • 5
    • 77957131926 scopus 로고    scopus 로고
    • Alpha-synuclein and synucleinopathies
    • Growdon J, Rossor MN (eds) 2. Oxford, Butterworth Heinemann, Inc
    • Schlossmacher M: Alpha-synuclein and synucleinopathies; in Growdon J, Rossor MN (eds): The Dementias 2. Oxford, Butterworth Heinemann, Inc, 2007, vol 30, pp 186-215.
    • (2007) Dementias , vol.30 , pp. 186-215
    • Schlossmacher, M.1
  • 7
    • 77956537090 scopus 로고    scopus 로고
    • Interaction between parkin and mutant glucocerebrosidase variants: A possible link between parkinson disease and gaucher disease
    • Ron I, Rapaport D, Horowitz M: Interaction between parkin and mutant glucocerebrosidase variants: a possible link between parkinson disease and gaucher disease. Hum Mol Genet 2010; 19: 3771-3781.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 3771-3781
    • Ron, I.1    Rapaport, D.2    Horowitz, M.3
  • 8
    • 71049138581 scopus 로고    scopus 로고
    • Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism
    • Manning-Bog AB, Schule B, Langston JW: Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009; 30: 1127-1132.
    • (2009) Neurotoxicology , vol.30 , pp. 1127-1132
    • Manning-Bog, A.B.1    Schule, B.2    Langston, J.W.3
  • 11
    • 79952619654 scopus 로고    scopus 로고
    • Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
    • Xu YH, Sun Y, Ran H, Quinn B, Witte D, Grabowski GA: Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab 2011; 102: 436-447.
    • (2011) Mol. Genet. Metab. , vol.102 , pp. 436-447
    • Xu, Y.H.1    Sun, Y.2    Ran, H.3    Quinn, B.4    Witte, D.5    Grabowski, G.A.6
  • 16
    • 80052028927 scopus 로고    scopus 로고
    • Exploring the link between glucocerebrosidase mutations and parkinsonism
    • Westbroek W, Gustafson AM, Sidransky E: Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med 2011; 17: 485-493.
    • (2011) Trends. Mol. Med. , vol.17 , pp. 485-493
    • Westbroek, W.1    Gustafson, A.M.2    Sidransky, E.3
  • 17
    • 0034893603 scopus 로고    scopus 로고
    • Gaucher's disease - An exemplary monogenic disorder
    • Cox TM: Gaucher's disease - An exemplary monogenic disorder. QJM 2001; 94: 399-402.
    • (2001) QJM , vol.94 , pp. 399-402
    • Cox, T.M.1
  • 19
    • 62549133546 scopus 로고    scopus 로고
    • Neuroinflammation in Parkinson's disease: A target for neuroprotection
    • Hirsch EC, Hunot S: Neuroinflammation in Parkinson's disease: a target for neuroprotection? Lancet Neurol 2009; 8: 382-397.
    • (2009) Lancet Neurol. , vol.8 , pp. 382-397
    • Hirsch, E.C.1    Hunot, S.2
  • 26
    • 78149410222 scopus 로고    scopus 로고
    • Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders
    • Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E: Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Acta Neuropathol 2010; 120: 641-649.
    • (2010) Acta Neuropathol. , vol.120 , pp. 641-649
    • Goker-Alpan, O.1    Stubblefield, B.K.2    Giasson, B.I.3    Sidransky, E.4
  • 27
    • 0037456578 scopus 로고    scopus 로고
    • The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease
    • Sharon R, Bar-Joseph I, Frosch MP, Walsh DM, Hamilton JA, Selkoe DJ: The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease. Neuron 2003; 37: 583-595.
    • (2003) Neuron , vol.37 , pp. 583-595
    • Sharon, R.1    Bar-Joseph, I.2    Frosch, M.P.3    Walsh, D.M.4    Hamilton, J.A.5    Selkoe, D.J.6
  • 28
    • 13844317890 scopus 로고    scopus 로고
    • The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Schlossmacher MG, Cullen V, Muthing J: The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005; 352: 728-731.
    • (2005) N. Engl. J. Med. , vol.352 , pp. 728-731
    • Schlossmacher, M.G.1    Cullen, V.2    Muthing, J.3
  • 31
    • 79956217030 scopus 로고    scopus 로고
    • Translational research in neurology and neuroscience 2011: Movement disorders
    • Klein C, Krainc D, Schlossmacher MG, Lang AE: Translational research in neurology and neuroscience 2011: Movement disorders. Arch Neurol 2011; 68: 709-716.
    • (2011) Arch. Neurol. , vol.68 , pp. 709-716
    • Klein, C.1    Krainc, D.2    Schlossmacher, M.G.3    Lang, A.E.4
  • 32
    • 25444512703 scopus 로고    scopus 로고
    • Gaucher disease mouse models: Point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants
    • Sun Y, Quinn B, Witte DP, Grabowski GA: Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res 2005; 46: 2102-2113.
    • (2005) J. Lipid. Res. , vol.46 , pp. 2102-2113
    • Sun, Y.1    Quinn, B.2    Witte, D.P.3    Grabowski, G.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.