Synucleinopathies from bench to bedside
References (20)
- et al.
Staging of brain pathology related to sporadic Parkinson's disease
Neurobiol Aging
(2003 Mar-Apr) - et al.
Dissecting the potential molecular mechanisms underlying alpha-synuclein cell-to-cell transfer in Parkinson's disease
Parkinsonism Relat Disord
(2009 Dec) Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease
Parkinsonism Relat Disord
(2009 Dec)- et al.
Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
Parkinsonism Relat Disord
(2009 Jun) - et al.
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction
Parkinsonism Relat Disord
(2009 Nov) - et al.
Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis
Neuron
(2010 Jan 14) - et al.
Neuroimaging for Lewy body disease: is the in vivo molecular imaging of alpha-synuclein neuropathology required and feasible?
Brain Res Rev
(2010 Oct 5) - et al.
alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study
Lancet Neurol
(2011 Mar) - et al.
Neuropathology underlying clinical variability in patients with synucleinopathies
Acta Neuropathol
(2011 Aug) - Danzer KM, McLean PJ. Drug targets from genetics: alpha-synuclein. CNS Neurol Disord Drug Targets 2011 Aug 15 [Epub...
Cited by (28)
Sequence TMEM230 gene in patients with multiple system atrophy in a southwest Chinese population: A pilot study
2017, Journal of the Neurological SciencesMutations in Niemann Pick type C gene are risk factor for Alzheimer's disease
2014, Medical HypothesesCitation Excerpt :The term synucleinopathies usually implies Parkinson’s disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA), even though this does not conclude the list. What these groups have in common are pathologic lesions composed of aggregates of insoluble α-synuclein protein in selectively vulnerable populations of neurons and glia [4,5]. Clinically, apart from parkinsonism and dementia, in this group of disorders olfactory disfunction, REM-sleep behavioral disorder and dysautonomia are interwoven [4,5].
Pesticides exposure as etiological factors of Parkinson's disease and other neurodegenerative diseases-A mechanistic approach
2014, Toxicology LettersCitation Excerpt :In accordance, exposure to PQ was shown to induce m-aconitase-dependent increase in H2O2, Fe2+ and cell death as seen by the attenuation of H2O2 production when m-aconitase expression was reduced by RNA interference (Cantu et al., 2011). Progressive loss of DA neurons of the nigrostriatal system and deposition of filamentous α-synuclein aggregates are the main characteristics of PD (Puschmann et al., 2012). Indeed, besides the fact that α-synuclein is a natively unfolded protein that plays a central role in the control of synaptic membrane processes and biogenesis, when it becomes misfolded, it aggregates, and accumulates in neuronal inclusion bodies, the Lewy bodies (Bellucci et al., 2012).
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population
2014, Parkinsonism and Related DisordersCitation Excerpt :Pathogenic mutations that result in hereditary forms of PD/parkinsonism are reported in a number of genes and have subsequently directed both functional studies and the generation of disease model systems [1,2]. The nomination of each new gene for parkinsonism implicates disease pathways and provides a rationale for targeted therapeutic development [3,4]. Recently, two substitutions in the eukaryotic translation initiation factor 4-gamma 1 protein (EIF4G1, MIM#600495); p.R1205H and p.A502V were nominated to cause PD with autosomal dominant inheritance in a number of pedigrees [5].
Genetic variants and animal models in SNCA and Parkinson disease
2014, Ageing Research ReviewsCitation Excerpt :It is prone to take on different conformations, depending on its surrounding microenvironment. It has a tendency to form microscopically visible dimers, oligomers, and various types of polymer aggregates, the hallmarks of the synucleinopathies (Puschmann et al., 2012). However, the most toxic form(s) of the α-synuclein protein to cells remains unclear (Saiki et al., 2012).
Update on novel familial forms of Parkinson's disease and multiple system atrophy
2014, Parkinsonism and Related Disorders