Mutation in the α-synuclein gene identified in families with Parkinson's disease
Mihael H. Polymeropoulos,Christian Lavedan,Elisabeth Leroy,Susan E. Ide,Anindya Dehejia,Amalia Dutra,Brian L. Pike,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Edward S. Stenroos,Settara C. Chandrasekharappa,Aglaia Athanassiadou,Theodore Papapetropoulos,William G. Johnson,Alice Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,Lawrence I. Golbe,Robert L. Nussbaum +19 more
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TLDR
A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.Abstract:
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the long arm of human chromosome 4. A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder.read more
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Aggregates from mutant and wild-type α-synuclein proteins and NAC peptide induce apoptotic cell death in human neuroblastoma cells by formation of β-sheet and amyloid-like filaments
Omar M. A. El-Agnaf,Ross Jakes,Martin D. Curran,Derek Middleton,Derek Middleton,Raffaele Ingenito,Elisabetta Bianchi,Antonello Pessi,David Neill,Andrew Wallace +9 more
TL;DR: It is reported that aggregates of NAC and α‐syn proteins induced apoptotic cell death in human neuroblastoma SH‐SY5Y cells, indicating that accumulation of α‐ Synuclein and its degradation products may play a major role in the development of the pathogenesis of these neurodegenerative diseases.
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Autophagy in health and disease: A comprehensive review
TL;DR: A comprehensive review on the role of autophagy in various diseases and their corresponding outcomes is presented.
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Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions.
TL;DR: It is suggested that alpha-syn aggregation is a key feature associated with decline of proteasome and lysosome and support the hypothesis that cell degeneration in PD involves proteosomal andlysosomal dysfunction, impaired protein clearance, and protein accumulation and aggregation leading to cell death.
Journal ArticleDOI
Genetic and environmental factors in the cause of Parkinson's disease.
TL;DR: The evidence in support of genetic and environmental factors in the cause of PD is reviewed and it is likely that for most cases, there is a complex interplay between these genetic andEnvironmental influences in the causation of Parkinson's disease.
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Protective and toxic roles of dopamine in Parkinson's disease
Juan Segura-Aguilar,Irmgard Paris,Irmgard Paris,Patricia Muñoz,Emanuele Ferrari,Luigi Zecca,Fabio A. Zucca +6 more
TL;DR: Dopamine oxidation to dopamine o‐quinone, aminochrome and 5,6‐indolequinone seems to play an important role in the neurodegenerative processes of Parkinson's disease as aminochrome induces mitochondria dysfunction, formation and stabilization of neurotoxic protofibrils of alpha synuclein, protein degradation dysfunction of both proteasomal and lysosomal systems and oxidative stress.
References
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Karen Hsiao,Harry F. Baker,Timothy J. Crow,Mark Poulter,Frank Owen,Joseph D. Terwilliger,David Westaway,Jurg Ott,Jurg Ott,Stanley B. Prusiner +9 more
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