Autosomal Dominant Lewy Body Parkinson Disease 4

01/01/2021 - "In this study, we investigated the dynamics of α-synuclein during the early stage of immature DA neurons, which were differentiated from human-induced pluripotent stem cells (hiPSCs) derived from either a PARK4 patient with SNCA triplication or a healthy donor. "
01/01/2021 - "Therefore, study of PARK4 might help elucidate the mechanism of α-synuclein aggregation. "
01/01/2021 - "Interestingly, α-synuclein accumulation disappeared over time in the PARK4 patient-derived DA neurons. "
01/01/2021 - "We observed increased α-synuclein accumulation in PARK4 hiPSC-derived DA neurons relative to those derived from healthy donor hiPSCs. "
01/01/2021 - "PARK4 patients exhibit multiplication of the α-synuclein gene (SNCA) without any pathological mutations, but their symptoms develop relatively early. "

10/01/2014 - "Increased expression of alpha-synuclein (PARK4) is a disease-triggering event in familial PD and also observed in SN DA neurons in sporadic PD but related transcriptional changes are unknown. "
08/01/2008 - "Increased alpha-synuclein (SNCA) expression is known to cause a rare form of PD, early-onset autosomal dominant PARK4. "
04/01/2008 - "In rare familial forms of PD, causal mutations (PARK1) as well as multiplications (PARK4) of the alpha-synuclein gene have been identified. "
11/01/2007 - "Missense mutations or gene multiplications of alpha-synuclein lead to autosomal dominant form of familial PD termed PARK1 or PARK4, respectively. "
08/01/2007 - "The alpha-synuclein gene has been implicated in rare autosomal dominant PD because of either mis-sense mutations (PARK1) or gene multiplications (PARK4). "

01/01/2017 - "In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. "

06/07/2001 - "Mutations in the alpha-Synuclein gene (PARK1) and in the gene for the ubiquitin C-terminal hydrolase I (PARK5), along with two gene loci harboring currently unknown genes (PARK3 and PARK4), have been linked to very rare autosomal dominantly inherited parkinsonian syndromes. "

11/01/2002 - "The alpha-synuclein(4q21.3-23), Parkin(6q25.2-27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase-L1 (4p14-16.3) and PARK6 and PARK7 (1p35-36) loci were excluded in this kindred using closely linked markers. "

01/01/2017 - "In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. "

01/01/2017 - "The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction."
01/01/2017 - "In view of the physiological roles of SNCA in blood to modulate vesicle release, we studied blood samples from a new large pedigree with SNCA gene duplication (PARK4 mutation) to identify effects of SNCA gain of function as potential disease biomarkers. "
01/01/2017 - "Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease."

01/01/2017 - "Strong SPP1, GZMH and PLTP mRNA upregulations were validated in PARK4. "

01/01/2017 - "Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease."
01/01/2017 - "In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. "

01/01/2017 - "In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. "