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https://www.readbyqxmd.com/read/29908567/construction-of-an-improved-aspergillus-niger-platform-for-enhanced-glucoamylase-secretion
#1
Markus R M Fiedler, Lars Barthel, Christin Kubisch, Corrado Nai, Vera Meyer
BACKGROUND: The lifestyle of filamentous fungi depends on the secretion of hydrolytic enzymes into the surrounding medium, which degrade polymeric substances into monomers that are then taken up to sustain metabolism. This feature has been exploited in biotechnology to establish platform strains with high secretory capacity including Aspergillus niger. The accepted paradigm is that proteins become mainly secreted at the tips of fungal hyphae. However, it is still a matter of debate if the amount of growing hyphal tips in filamentous fungi correlates with an increase in secretion, with previous studies showing either a positive or no correlation...
June 16, 2018: Microbial Cell Factories
https://www.readbyqxmd.com/read/29906669/generation-of-gene-corrected-ipsc-line-from-parkinson-s-disease-patient-ipsc-line-with-alpha-snca-a53t-mutation
#2
Seo-Young Lee, SangKyun Jeong, Janghwan Kim, Sun-Ku Chung
Parkinson's disease (PD) is the second most common age-related neurodegenerative disorder. PD can result from a mutation of alpha-synuclein (α-SNCA), such as α-SNCA A53T. Using episomal vectors, induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts with the α-SNCA A53T mutation. A huge bacterial artificial chromosome (BAC) harboring the normal α-SNCA gene successfully corrected the α-SNCA A53T-mutant iPSCs. Melting curve analysis for allelic composition indicated that the BAC DNA was precisely targeted to the α-SNCA A53T mutation allele, without random integration...
June 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29899557/a-single-cell-high-content-assay-detects-mitochondrial-dysfunction-in-ipsc-derived-neurons-with-mutations-in-snca
#3
Daniel Little, Christin Luft, Olukunbi Mosaku, Maëlle Lorvellec, Zhi Yao, Sébastien Paillusson, Janos Kriston-Vizi, Sonia Gandhi, Andrey Y Abramov, Robin Ketteler, Michael J Devine, Paul Gissen
Mitochondrial dysfunction is implicated in many neurodegenerative diseases including Parkinson's disease (PD). Induced pluripotent stem cells (iPSCs) provide a unique cell model for studying neurological diseases. We have established a high-content assay that can simultaneously measure mitochondrial function, morphology and cell viability in iPSC-derived dopaminergic neurons. iPSCs from PD patients with mutations in SNCA and unaffected controls were differentiated into dopaminergic neurons, seeded in 384-well plates and stained with the mitochondrial membrane potential dependent dye TMRM, alongside Hoechst-33342 and Calcein-AM...
June 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29895861/%C3%AE-synuclein-oligomers-interact-with-atp-synthase-and-open-the-permeability-transition-pore-in-parkinson-s-disease
#4
Marthe H R Ludtmann, Plamena R Angelova, Mathew H Horrocks, Minee L Choi, Margarida Rodrigues, Artyom Y Baev, Alexey V Berezhnov, Zhi Yao, Daniel Little, Blerida Banushi, Afnan Saleh Al-Menhali, Rohan T Ranasinghe, Daniel R Whiten, Ratsuda Yapom, Karamjit Singh Dolt, Michael J Devine, Paul Gissen, Tilo Kunath, Morana Jaganjac, Evgeny V Pavlov, David Klenerman, Andrey Y Abramov, Sonia Gandhi
Protein aggregation causes α-synuclein to switch from its physiological role to a pathological toxic gain of function. Under physiological conditions, monomeric α-synuclein improves ATP synthase efficiency. Here, we report that aggregation of monomers generates beta sheet-rich oligomers that localise to the mitochondria in close proximity to several mitochondrial proteins including ATP synthase. Oligomeric α-synuclein impairs complex I-dependent respiration. Oligomers induce selective oxidation of the ATP synthase beta subunit and mitochondrial lipid peroxidation...
June 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29887346/pooled-dna-target-sequencing-of-parkinson-genes-reveals-novel-phenotypic-associations-in-spanish-population
#5
Monica Diez-Fairen, Bruno A Benitez, Sara Ortega-Cubero, Oswaldo Lorenzo-Betancor, Carlos Cruchaga, Elena Lorenzo, Lluis Samaranch, Maria Carcel, Jose A Obeso, Maria Cruz Rodriguez-Oroz, Miquel Aguilar, Francisco Coria, Maria A Pastor, Pau Pastor
Eighteen loci and several susceptibility genes have been related to Parkinson's disease (PD). However, most studies focus on single genes in small PD series. Our aim was to establish the genetic background of a large Spanish PD sample. Pooled-DNA target sequencing of 7 major PD genes (SNCA, PARK2, PINK1, DJ-1, LRRK2, GBA, and MAPT) was performed in 562 PD cases. Forty-four variants were found among 114 individuals (20.28%, p<0.05). Among these variants, 30 were found in Mendelian genes (68.18%) and 14 in PD susceptibility genes (31...
May 14, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29865270/impaired-photic-entrainment-of-spontaneous-locomotor-activity-in-mice-overexpressing-human-mutant-%C3%AE-synuclein
#6
Martina Pfeffer, Zuzana Zimmermann, Suzana Gispert, Georg Auburger, Horst-Werner Korf, Charlotte von Gall
Parkinson's disease (PD) is characterized by distinct motor and non-motor symptoms. Sleep disorders are the most frequent and challenging non-motor symptoms in PD patients, and there is growing evidence that they are a consequence of disruptions within the circadian system. PD is characterized by a progressive degeneration of the dorsal vagal nucleus and midbrain dopaminergic neurons together with an imbalance of many other neurotransmitters. Mutations in α-synuclein (SNCA), a protein modulating SNARE complex-dependent neurotransmission, trigger dominantly inherited PD variants and sporadic cases of PD...
June 3, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29859327/snca-rep1-and-parkinson-s-disease
#7
Li Shu, Yuan Zhang, Qiying Sun, Hongxu Pan, Jifeng Guo, Beisha Tang
REP1 is a polymorphic dinucleotide repeat sequence located in the promoter region of the SNCA gene (OMIM 163890). Opinions regarding the interaction between the various REP1 alleles and Parkinson's disease (PD) or its phenotypes have been inconsistent and have thus far not been comprehensively analyzed. In this study, we searched Medline, Embase and Cochrane databases as well as the Chinese-language Wanfang and CNKI databases using strict inclusion and exclusion criteria and conducted our analysis using Revman 5...
May 30, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29849887/epigenetic-modifications-of-the-%C3%AE-synuclein-gene-and-relative-protein-content-are-affected-by-ageing-and-physical-exercise-in-blood-from-healthy-subjects
#8
Simona Daniele, Barbara Costa, Deborah Pietrobono, Chiara Giacomelli, Caterina Iofrida, Maria Letizia Trincavelli, Jonathan Fusi, Ferdinando Franzoni, Claudia Martini
Epigenetic regulation may contribute to the beneficial effects of physical activity against age-related neurodegeneration. For example, epigenetic alterations of the gene encoding for α -synuclein ( SNCA ) have been widely explored in both brain and peripheral tissues of Parkinson's disease samples. However, no data are currently available about the effects of physical exercise on SNCA epigenetic regulation in ageing healthy subjects. The present paper explored whether, in healthy individuals, age and physical activity are related to blood intron1- SNCA ( SNCAI1 ) methylation, as well as further parameters linked to such epigenetic modification (total, oligomeric α -synuclein and DNA methyltransferase concentrations in the blood)...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29808713/age-related-beta-synuclein-alters-the-p53-mdm2-pathway-and-induces-the-apoptosis-of-brain-microvascular-endothelial-cells-in-vitro
#9
Katrin Brockhaus, Michael R R Böhm, Harutyun Melkonyan, Solon Thanos
Increased β-synuclein (Sncb) expression has been described in the aging visual system. Sncb functions as the physiological antagonist of α-synuclein (Snca), which is involved in the development of neurodegenerative diseases, such as Parkinson's and Alzheimer's diseases. However, the exact function of Sncb remains unknown. The aim of this study was to elucidate the age-dependent role of Sncb in brain microvascular endothelial cells (BMECs). BMECs were isolated from the cortices of 5- to 9-d-old Sprague-Dawley rats and were cultured with different concentrations of recombinant Sncb (rSncb) up to 72 h resembling to some degree age-related as well as pathophysiological conditions...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29771508/comparison-of-kinetics-toxicity-oligomers-formation-and-membrane-binding-capacity-of-%C3%AE-synuclein-familial-mutations-at-a53-site-including-newly-discovered-a53v-mutation
#10
Ganesh M Mohite, Rakesh Kumar, Rajlaxmi Panigrahi, Ambuja Navalkar, Nitu Singh, Debalina Datta, Surabhi Mehra, Soumik Ray, Laxmikant G Gadhe, Subhadeep Das, Namrata Singh, Debdeep Chatterjee, Ashutosh Kumar, Samir K Maji
The involvement of α-synuclein (α-Syn) amyloid formation in Parkinson's disease (PD) pathogenesis is supported by the discovery of α-Syn gene (SNCA) mutations linked with familial PD, which are known to modulate the oligomerization and aggregation of α-Syn. Recently, the A53V mutation has been discovered, which leads to the late-onset PD. In the present study, we characterized for the first time the biophysical properties including the aggregation propensities, toxicity of aggregated species and membrane binding capability of A53V along with all familial mutations at A53 position...
May 17, 2018: Biochemistry
https://www.readbyqxmd.com/read/29769405/%C3%AE-synuclein-stimulation-of-monoamine-oxidase-b-and-legumain-protease-mediates-the-pathology-of-parkinson-s-disease
#11
Seong Su Kang, Eun Hee Ahn, Zhentao Zhang, Xia Liu, Fredric P Manfredsson, Ivette M Sandoval, Susov Dhakal, P Michael Iuvone, Xuebing Cao, Keqiang Ye
Dopaminergic neurodegeneration in Parkinson's disease (PD) is associated with abnormal dopamine metabolism by MAO-B (monoamine oxidase-B) and intracellular α-Synuclein (α-Syn) aggregates, called the Lewy body. However, the molecular relationship between α-Syn and MAO-B remains unclear. Here, we show that α-Syn directly binds to MAO-B and stimulates its enzymatic activity, which triggers AEP (asparagine endopeptidase; legumain) activation and subsequent α-Syn cleavage at N103, leading to dopaminergic neurodegeneration...
May 16, 2018: EMBO Journal
https://www.readbyqxmd.com/read/29755323/environmental-enrichment-prevents-transcriptional-disturbances-induced-by-alpha-synuclein-overexpression
#12
Zinah Wassouf, Thomas Hentrich, Sebastian Samer, Carola Rotermund, Philipp J Kahle, Ingrid Ehrlich, Olaf Riess, Nicolas Casadei, Julia M Schulze-Hentrich
Onset and progression of neurodegenerative disorders, including synucleinopathies such as Parkinson's disease, have been associated with various environmental factors. A highly compelling association from a therapeutic point of view has been found between a physically active lifestyle and a significantly reduced risk for Parkinson's disease. Mimicking such conditions in animal models by promoting physical activity, social interactions, and novel surroundings yields in a so-called enriched environment known to enhance adult neurogenesis, increase synaptic plasticity, and decelerate neuronal loss...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29750314/screening-of-differentially-expressed-genes-in-male-idiopathic-osteoporosis-via-rna-sequencing
#13
Li Feng, Yan Wang, Jing Zhou, Baofang Tian, Bo Xia
As a type of osteoporosis (OP), male idiopathic OP (MIO) is a bone disorder that occurs in young males and is a public health problem worldwide. However, the detailed pathogenesis of MIO remains to be elucidated. In the present study, blood samples of patients with MIO, senile OP, postmenopausal OP and normal controls (NCs) were obtained for RNA sequencing. Compared with the NC group, differentially expressed genes (DEGs) in the three types of OP were identified. DEGs that were common among the three types of OP and the DEGs that were unique to patients with MIO were determined...
May 7, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29730891/alpha-synuclein-mrna-isoform-formation-and-translation-affected-by-polymorphism-in-the-human-snca-3-utr
#14
Elizabeth S Barrie, Sung-Ha Lee, John T Frater, Maria Kataki, Douglas W Scharre, Wolfgang Sadee
BACKGROUND: Multiple variants in SNCA, encoding alpha-synuclein, a main component of Lewy bodies, are implicated in Parkinson's disease. METHODS: We searched for cis-acting SNCA variants using allelic mRNA ratios in human brain tissues. In a SNCA 3'UTR (2,520 bp) luciferase reporter gene assay, translation in SH-SY5Y cells in the presence of the rs17016074 G/A alleles was measured. To assess clinical impact, we queried neurocognitive genome-wide association studies...
May 6, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29730780/toward-deciphering-the-mechanistic-role-of-variations-in-the-rep1-repeat-site-in-the-transcription-regulation-of-snca-gene
#15
A Afek, L Tagliafierro, O C Glenn, D B Lukatsky, R Gordan, O Chiba-Falek
Short structural variants-variants other than single nucleotide polymorphisms-are hypothesized to contribute to many complex diseases, possibly by modulating gene expression. However, the molecular mechanisms by which noncoding short structural variants exert their effects on gene regulation have not been discovered. Here, we study simple sequence repeats (SSRs), a common class of short structural variants. Previously, we showed that repetitive sequences can directly influence the binding of transcription factors to their proximate recognition sites, a mechanism we termed non-consensus binding...
May 5, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29729894/the-cortical-excitability-profile-of-patients-with-the-g209a-snca-mutation-versus-patients-with-sporadic-parkinson-s-disease-a-transcranial-magnetic-stimulation-study
#16
Vasilios K Kimiskidis, Sotirios Papayiannopoulos, Kyriaki Sotirakoglou, Haralambos Karakasis, Zoe Katsarou, Dimitrios A Kazis, Vasileios Papaliagkas, Stylianos Gatzonis, Alexandros Papadimitriou, Georgios Hadjigeorgiou, Sevasti Bostanjopoulou
Mutations in the α-synuclein gene are a rare cause of Parkinson's disease. We investigated, by single-pulse TMS, the cortical excitability profile of nine α-synuclein patients in comparison with 24 idiopathic PD patients, subdivided into "akinetic" (n=17) and "tremor-dominant" (n=7) subgroups. The comparative assessment of rest motor threshold, active MEP and Silent Period Input/Output curves indicated that the cortical excitability of α-Synuclein patients is similar to patients with the "akinetic" form of PD...
May 2, 2018: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29707191/environmental-and-genetic-variables-influencing-mitochondrial-health-and-parkinson-s-disease-penetrance
#17
REVIEW
Alessandra Zanon, Peter P Pramstaller, Andrew A Hicks, Irene Pichler
There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD. The two key PD genes related to mitochondrial function are Parkin ( PARK2 ) and PINK1 ( PARK6 ), and also mutations in several other PD genes, including SNCA , LRRK2 , DJ1 , CHCHD2 , and POLG , have been shown to induce mitochondrial stress. Many mutations are clearly pathogenic in some patients while carriers of other mutations either do not develop the disease or show a delayed onset, a phenomenon known as reduced penetrance...
2018: Parkinson's Disease
https://www.readbyqxmd.com/read/29700768/proteomic-analysis-of-cerebral-cortex-extracts-from-sus-scrofa-with-induced-hemorrhagic-stroke
#18
Alexander A Sidyakin, Anna L Kaysheva, Artur T Kopylov, Alexander V Lobanov, Sergei G Morozov
Cerebrovascular diseases, including stroke and micro stroke, are the main causes of death in contemporary society. Hemorrhagic stroke is the fast emerging defficiency in the brain function resulting from disturbance of blood supply to the brain caused by the rapture of blood vessels (Lopez et al. in Proteomics Clin Appl 6:190-200, 2012). The influence of a model hemorrhagic stroke on white pigs with the change in the protein profile of their cortical samples 24 h and 2 months after the stroke was examined using mass-spectrometric analysis...
April 26, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29688812/nitration-of-microtubules-blocks-axonal-mitochondrial-transport-in-a-human-pluripotent-stem-cell-model-of-parkinson-s-disease
#19
Morgan G Stykel, Kayla Humphries, Mathew P Kirby, Chris Czaniecki, Tinya Wang, Tammy Ryan, Vladimir Bamm, Scott D Ryan
Neuronal loss in Parkinson's disease (PD) is associated with aberrant mitochondrial function in dopaminergic (DA) neurons of the substantia nigra pars compacta. An association has been reported between PD onset and exposure to mitochondrial toxins, including the agrochemicals paraquat (PQ), maneb (MB), and rotenone (Rot). Here, with the use of a patient-derived stem cell model of PD, allowing comparison of DA neurons harboring a mutation in the α-synuclein (α-syn) gene ( SNCA-A53T) against isogenic, mutation-corrected controls, we describe a novel mechanism whereby NO, generated from SNCA-A53T mutant neurons exposed to Rot or PQ/MB, inhibits anterograde mitochondrial transport through nitration of α-tubulin (α-Tub)...
April 24, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29686602/advancing-stem-cell-models-of-alpha-synuclein-gene-regulation-in-neurodegenerative-disease
#20
REVIEW
Desiree A Piper, Danuta Sastre, Birgitt Schüle
Alpha-synuclein ( non A4 component of amyloid precursor, SNCA, NM_000345.3 ) plays a central role in the pathogenesis of Parkinson's disease (PD) and related Lewy body disorders such as Parkinson's disease dementia, Lewy body dementia, and multiple system atrophy. Since its discovery as a disease-causing gene in 1997, alpha-synuclein has been a central point of scientific interest both at the protein and gene level. Mutations, including copy number variants, missense mutations, short structural variants, and single nucleotide polymorphisms, can be causative for PD and affect conformational changes of the protein, can contribute to changes in expression of alpha-synuclein and its isoforms, and can influence regulation of temporal as well as spatial levels of alpha-synuclein in different tissues and cell types...
2018: Frontiers in Neuroscience
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