R1441G相关帕金森病中缺乏中枢和外周神经系统的突触核蛋白病理改变。 - Suppr

Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

作者信息

Vilas Dolores, Gelpi Ellen, Aldecoa Iban, Grau Oriol, Rodriguez-Diehl Roberta, Jaumà Serge, Martí María José, Tolosa Eduard

机构信息

Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.

Movement Disorders Unit, Neurology Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.

出版信息

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):832-833. doi: 10.1136/jnnp-2018-318473. Epub 2018 Jul 27.

DOI:10.1136/jnnp-2018-318473

PMID:30054313

Abstract

摘要

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Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):832-833. doi: 10.1136/jnnp-2018-318473. Epub 2018 Jul 27.

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Interaction of LRRK2 and α-Synuclein in Parkinson's Disease.

Adv Neurobiol. 2017;14:209-226. doi: 10.1007/978-3-319-49969-7_11.

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.

Brain. 2018 Feb 1;141(2):486-495. doi: 10.1093/brain/awx344.

LRRK2 activity does not dramatically alter α-synuclein pathology in primary neurons.

Acta Neuropathol Commun. 2018 May 31;6(1):45. doi: 10.1186/s40478-018-0550-0.

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.

J Neuroinflammation. 2016 Nov 18;13(1):295. doi: 10.1186/s12974-016-0761-x.

LRRK2 G2019S Mutation Inhibits Degradation of α-Synuclein in an In Vitro Model of Parkinson's Disease.

Curr Med Sci. 2018 Dec;38(6):1012-1017. doi: 10.1007/s11596-018-1977-z. Epub 2018 Dec 7.

Misfolded α-Synuclein Seeding Is Detected in Suspected LRRK2-Parkinson's Disease without Immunohistochemically Detectable α-Synuclein Pathology.

Mov Disord. 2024 Jan;39(1):218-220. doi: 10.1002/mds.29665. Epub 2023 Nov 20.

Reduced content of α-synuclein in peripheral blood leukocytes of patients with LRRK2-associated Parkinson's disease.

Bull Exp Biol Med. 2011 Apr;150(6):679-81. doi: 10.1007/s10517-011-1221-3.

Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease.

Parkinsonism Relat Disord. 2020 May;74:76-77. doi: 10.1016/j.parkreldis.2019.11.006. Epub 2019 Nov 9.

引用本文的文献

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.

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Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases.

NPJ Parkinsons Dis. 2023 Dec 7;9(1):161. doi: 10.1038/s41531-023-00604-y.

Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules. 2023 May 16;13(5):845. doi: 10.3390/biom13050845.

Physiological and pathological functions of LRRK2: implications from substrate proteins.

Neuronal Signal. 2018 Oct 10;2(4):NS20180005. doi: 10.1042/NS20180005. eCollection 2018 Dec.

Comparative study of cerebrospinal fluid α-synuclein seeding aggregation assays for diagnosis of Parkinson's disease.

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Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

作者信息

Vilas Dolores, Gelpi Ellen, Aldecoa Iban, Grau Oriol, Rodriguez-Diehl Roberta, Jaumà Serge, Martí María José, Tolosa Eduard

机构信息

Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.

Movement Disorders Unit, Neurology Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.

出版信息

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):832-833. doi: 10.1136/jnnp-2018-318473. Epub 2018 Jul 27.

DOI:10.1136/jnnp-2018-318473

PMID:30054313

Abstract

摘要

相似文献

Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):832-833. doi: 10.1136/jnnp-2018-318473. Epub 2018 Jul 27.

Enteric alpha-synuclein pathology in LRRK2-G2019S Parkinson's disease.

Parkinsonism Relat Disord. 2017 Jul;40:83-84. doi: 10.1016/j.parkreldis.2017.05.001. Epub 2017 May 3.

Interaction of LRRK2 and α-Synuclein in Parkinson's Disease.

Adv Neurobiol. 2017;14:209-226. doi: 10.1007/978-3-319-49969-7_11.

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.

Brain. 2018 Feb 1;141(2):486-495. doi: 10.1093/brain/awx344.

LRRK2 activity does not dramatically alter α-synuclein pathology in primary neurons.

Acta Neuropathol Commun. 2018 May 31;6(1):45. doi: 10.1186/s40478-018-0550-0.

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.

J Neuroinflammation. 2016 Nov 18;13(1):295. doi: 10.1186/s12974-016-0761-x.

LRRK2 G2019S Mutation Inhibits Degradation of α-Synuclein in an In Vitro Model of Parkinson's Disease.

Curr Med Sci. 2018 Dec;38(6):1012-1017. doi: 10.1007/s11596-018-1977-z. Epub 2018 Dec 7.

Misfolded α-Synuclein Seeding Is Detected in Suspected LRRK2-Parkinson's Disease without Immunohistochemically Detectable α-Synuclein Pathology.

Mov Disord. 2024 Jan;39(1):218-220. doi: 10.1002/mds.29665. Epub 2023 Nov 20.

Reduced content of α-synuclein in peripheral blood leukocytes of patients with LRRK2-associated Parkinson's disease.

Bull Exp Biol Med. 2011 Apr;150(6):679-81. doi: 10.1007/s10517-011-1221-3.

Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease.

Parkinsonism Relat Disord. 2020 May;74:76-77. doi: 10.1016/j.parkreldis.2019.11.006. Epub 2019 Nov 9.

引用本文的文献

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.

Int J Mol Sci. 2024 Feb 15;25(4):2320. doi: 10.3390/ijms25042320.

Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases.

NPJ Parkinsons Dis. 2023 Dec 7;9(1):161. doi: 10.1038/s41531-023-00604-y.

Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules. 2023 May 16;13(5):845. doi: 10.3390/biom13050845.

Physiological and pathological functions of LRRK2: implications from substrate proteins.

Neuronal Signal. 2018 Oct 10;2(4):NS20180005. doi: 10.1042/NS20180005. eCollection 2018 Dec.

Comparative study of cerebrospinal fluid α-synuclein seeding aggregation assays for diagnosis of Parkinson's disease.

Mov Disord. 2019 Apr;34(4):536-544. doi: 10.1002/mds.27646. Epub 2019 Mar 6.

Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

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Lack of central and peripheral nervous system synuclein pathology in R1441G -associated Parkinson's disease.

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