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https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#1
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28446570/prevalence-and-outcomes-of-achromobacter-species-infections-in-adults-with-cystic-fibrosis-a-north-american-cohort-study
#2
B D Edwards, J Greysson-Wong, R Somayaji, B Waddell, F J Whelan, D G Storey, H R Rabin, M G Surette, M D Parkins
Introduction:Achromobacter species are now increasingly recognized in CF, with unclear epidemiology and impact.Methods: We studied a cohort of patients attending a Canadian adult CF clinic who had positive sputum cultures for Achromobacter species from 1984-2013. Infection was categorized as transient or persistent (≥50% positive cultures in one year). Those with persistent infection were matched 2:1 with age, sex, and time-matched controls without history of Achromobacter infection and mixed effects models used to assess pulmonary exacerbation(PEx) frequency and lung function decline...
April 26, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28445716/trumping-neurodegeneration-targeting-common-pathways-regulated-by-autosomal-recessive-parkinson-s-disease-genes
#3
REVIEW
Laura Scott, Valina L Dawson, Ted M Dawson
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (DA) neurons. Most PD cases are sporadic; however, rare familial forms have been identified. Autosomal recessive PD (ARPD) results from mutations in Parkin, PINK1, DJ-1, and ATP13A2, while rare, atypical juvenile ARPD result from mutations in FBXO7, DNAJC6, SYNJ1, and PLA2G6. Studying these genes and their function has revealed mitochondrial quality control, protein degradation processes, and oxidative stress responses as common pathways underlying PD pathogenesis...
April 23, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28438176/the-pink1-p-i368n-mutation-affects-protein-stability-and-ubiquitin-kinase-activity
#4
Maya Ando, Fabienne C Fiesel, Roman Hudec, Thomas R Caulfield, Kotaro Ogaki, Paulina Górka-Skoczylas, Dariusz Koziorowski, Andrzej Friedman, Li Chen, Valina L Dawson, Ted M Dawson, Guojun Bu, Owen A Ross, Zbigniew K Wszolek, Wolfdieter Springer
BACKGROUND: Mutations in PINK1 and PARKIN are the most common causes of recessive early-onset Parkinson's disease (EOPD). Together, the mitochondrial ubiquitin (Ub) kinase PINK1 and the cytosolic E3 Ub ligase PARKIN direct a complex regulated, sequential mitochondrial quality control. Thereby, damaged mitochondria are identified and targeted to degradation in order to prevent their accumulation and eventually cell death. Homozygous or compound heterozygous loss of either gene function disrupts this protective pathway, though at different steps and by distinct mechanisms...
April 24, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28437683/pink1-and-parkin-emerging-themes-in-mitochondrial-homeostasis
#5
REVIEW
Thomas G McWilliams, Miratul Mk Muqit
The Parkinson's disease (PD)-associated protein kinase, PTEN-induced putative kinase1 (PINK1), and ubiquitin E3 ligase, Parkin function in a common signalling pathway known to regulate mitochondrial network homeostasis and quality control, including mitophagy. The multistep activation of this pathway, as well as an unexpected convergence between the post-translational modifications of ubiquitylation and phosphorylation, has added breadth to our understanding of cellular damage responses during human disease...
April 21, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28436637/-research-progress-on-mechanism-of-nix-mediated-mitophagy
#6
Yanrong Zheng, Xiangnan Zhang, Zhong Chen
Autophagy is fundamental to maintain cellular homeostasis. As one kind of the most well-studied selective autophagy, autophagy of mitochondria (mitophagy)is crucial for the clearance of damaged mitochondria. Mitophagy dysfunction has been proved to be closely associated with many human diseases. Nix is a key protein for mitophagy during the maturation of reticulocytes. However, the detailed molecular mechanisms underlying Nix-mediated mitophagy are not fully understood. This article summarizes three possible working models of Nix in mitophagy induction...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28435781/carbon-nanotubes-in-tio2-nanofiber-photoelectrodes-for-high-performance-perovskite-solar-cells
#7
Munkhbayar Batmunkh, Thomas J Macdonald, Cameron J Shearer, Munkhjargal Bat-Erdene, Yun Wang, Mark J Biggs, Ivan P Parkin, Thomas Nann, Joseph G Shapter
1D semiconducting oxides are unique structures that have been widely used for photovoltaic (PV) devices due to their capability to provide a direct pathway for charge transport. In addition, carbon nanotubes (CNTs) have played multifunctional roles in a range of PV cells because of their fascinating properties. Herein, the influence of CNTs on the PV performance of 1D titanium dioxide nanofiber (TiO2 NF) photoelectrode perovskite solar cells (PSCs) is systematically explored. Among the different types of CNTs, single-walled CNTs (SWCNTs) incorporated in the TiO2 NF photoelectrode PSCs show a significant enhancement (≈40%) in the power conversion efficiency (PCE) as compared to control cells...
April 2017: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/28435104/drosophila-pink1-and-parkin-loss-of-function-mutants-display-a-range-of-non-motor-parkinson-s-disease-phenotypes
#8
Hannah Julienne, Edgar Buhl, David S Leslie, James J L Hodge
Parkinson's disease (PD) is more commonly associated with its motor symptoms and the related degeneration of dopamine (DA) neurons. However, it is becoming increasingly clear that PD patients also display a wide range of non-motor symptoms, including memory deficits and disruptions of their sleep-wake cycles. These have a large impact on their quality of life, and often precede the onset of motor symptoms, but their etiology is poorly understood. The fruit fly Drosophila has already been successfully used to model PD, and has been used extensively to study relevant non-motor behaviours in other contexts, but little attention has yet been paid to modelling non-motor symptoms of PD in this genetically tractable organism...
April 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433685/p62-mediated-mitochondrial-clustering-attenuates-apoptosis-induced-by-mitochondrial-depolarization
#9
Bin Xiao, Xiao Deng, Grace G Y Lim, Wei Zhou, Wuan-Ting Saw, Zhi Dong Zhou, Kah-Leong Lim, Eng-King Tan
Parkin/PINK1-mediated mitophagy is implicated in the pathogenesis of Parkinson's disease (PD). Prior to elimination of damaged mitochondria, Parkin translocates to mitochondria and induces mitochondrial clustering. While the mechanism of PINK1-dependent Parkin redistribution to mitochondria is now becoming clear, the role of mitochondrial clustering has been less well understood. In our study, we found that loss of p62 disrupted mitochondrial aggregation and specifically sensitized Parkin-expressing cells to apoptosis induced by mitochondrial depolarization...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28432765/nature-s-parkin-experiment-nix-a-novel-protective-mechanism-in-parkinson-s-disease
#10
Diana A Olszewska, Tim Lynch
No abstract text is available yet for this article.
April 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28431746/re-evaluation-of-serum-ferritin-cut-off-values-for-the-diagnosis-of-iron-deficiency-in-children-aged-12-36-months
#11
Kawsari Abdullah, Catherine S Birken, Jonathon L Maguire, Darcy Fehlings, Anthony J Hanley, Kevin E Thorpe, Patricia C Parkin
An ongoing challenge has been determining clinically relevant serum ferritin cut-offs in the diagnosis of iron deficiency in children aged 1-3 years. We identified 2 potential clinically relevant serum ferritin cut-off values through their association with clinically important cut-off of hemoglobin as the indicator of anemia.
April 18, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28430587/parkin-regulates-translesion-dna-synthesis-in-response-to-uv-radiation
#12
Xuefei Zhu, Xiaolu Ma, Yingfeng Tu, Min Huang, Hongmei Liu, Fengli Wang, Juanjuan Gong, Jiuqiang Wang, Xiaoling Li, Qian Chen, Hongyan Shen, Shu Zhu, Yun Wang, Yang Liu, Caixia Guo, Tie-Shan Tang
Deficiency of Parkin is a major cause of early-onset Parkinson's disease (PD). Notably, PD patients also exhibit a significantly higher risk in melanoma and other skin tumors, while the mechanism remains largely unknown. In this study, we show that depletion of Parkin causes compromised cell viability and genome stability after ultraviolet (UV) radiation. We demonstrate that Parkin promotes efficient Rad18-dependent proliferating cell nuclear antigen (PCNA) monoubiquitination by facilitating the formation of Replication protein A (RPA)-coated ssDNA upon UV radiation...
April 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430421/flexibility-of-the-carbodiphosphorane-ph3p-2c-structural-characterization-of-a-linear-form
#13
Patrick J Quinlivan, Gerard Parkin
X-ray diffraction studies demonstrate that crystals of the carbodiphosphorane, (Ph3P)2C, obtained from solutions in benzene, exhibit a linear P-C-P interaction. This observation is in contrast to the highly bent structures that have been previously reported for this molecule, thereby providing experimental evidence that the coordination geometry at zerovalent carbon may be very flexible. Density functional theory calculations support the experimental observations by demonstrating that the energy of (Ph3P)2C varies relatively little over the range 130-180°...
April 21, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28426223/over-destabilization-of-protein-protein-interaction-in-generalized-born-model-and-utility-of-energy-density-integration-cutoff
#14
Yukinobu Mizuhara, Dan Parkin, Koji Umezawa, Jun Ohnuki, Mitsunori Takano
The generalize Born (GB) model is frequently used in MD simulations of biomolecular systems in aqueous solution. The GB model is usually based on the so-called Coulomb field approximation (CFA) for the energy density integration. In this study, we report that the GB model with CFA overdestabilizes the long-range electrostatic attraction between oppositely-charged molecules (ionic bond forming two-helix system and kinesin-tubulin system) when the energy density integration cutoff, rmax, which is used to calculate the Born energy, is set to a large value...
April 20, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28425671/activity-based-probes-for-hect-e3-ubiquitin-ligases
#15
Robert Byrne, Thomas Mund, Julien Licchesi
Activity-Based Probes (ABPs) have been used to dissect the biochemical/structural properties and cellular functions of deubiquitinases. However, their utility in studying cysteine-based E3 ubiquitin ligases has so far been limited. In this study, we evaluate the use of Ubiquitin-ABPs (Ub-VME and Ub-PA) and a novel set of E2~Ub-ABPs, on a panel of HECT E3 ubiquitin ligases. Our in vitro data show that ubiquitin-ABPs can label HECT domains and we also provide the first evidence that, in addition to the RBR E3 ubiquitin ligase Parkin, E2~Ub-ABPs can also label the catalytic HECT domain of NEDD4, UBE3C and HECTD1...
April 20, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28424751/levodopa-responsive-parkinsonism-in-patients-with-hemochromatosis-case-presentation-and-literature-review
#16
Tarun Girotra, Abhimanyu Mahajan, Christos Sidiropoulos
Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. The excess iron promotes Parkin and α-synuclein aggregation in the neurons. Excess iron has also been noted in substantia nigra on MRI especially using susceptibility weighted imaging in patients with Parkinson's disease...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28422490/redox-tagged-carbon-monoxide-releasing-molecules-corms-ferrocene-containing-mn-c-n-co-4-complexes-as-a-promising-new-corm-class
#17
Benjamin J Aucott, Jonathan S Ward, Samuel G Andrew, Jessica Milani, Adrian C Whitwood, Jason M Lynam, Alison Parkin, Ian J S Fairlamb
This study describes the synthesis and characterization of a new class of ferrocene-containing carbon monoxide-releasing molecules (CORMs, 1-3). The ferrocenyl group is both a recognized therapeutically viable coligand and a handle for informative infrared spectroelectrochemistry. Deoxymyoglobin CO-release assays and in situ infrared spectroscopy confirm compounds 2 and 3 as photoCORMs and 1 as a thermal CORM, attributed to the increased sensitivity of the Mn-ferrocenyl bond to protonation in 1. Electrochemical and infrared spectroelectrochemical experiments confirm a single reversible redox couple associated with the ferrocenyl moiety with the Mn tetracarbonyl center showing no redox activity up to +590 mV vs Fc/Fc(+), though no concomitant CO release was observed in association with the redox activity...
April 19, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28414322/parkin-phosphoubiquitin-complex-reveals-cryptic-ubiquitin-binding-site-required-for-rbr-ligase-activity
#18
Atul Kumar, Viduth K Chaugule, Tara E C Condos, Kathryn R Barber, Clare Johnson, Rachel Toth, Ramasubramanian Sundaramoorthy, Axel Knebel, Gary S Shaw, Helen Walden
RING-between-RING (RBR) E3 ligases are a class of ubiquitin ligases distinct from RING or HECT E3 ligases. An important RBR ligase is Parkin, mutations in which lead to early-onset hereditary Parkinsonism. Parkin and other RBR ligases share a catalytic RBR module but are usually autoinhibited and activated via distinct mechanisms. Recent insights into Parkin regulation predict large, unknown conformational changes during Parkin activation. However, current data on active RBR ligases reflect the absence of regulatory domains...
April 17, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28414310/autophagy-supports-generation-of-cells-with-high-cd44-expression-via-modulation-of-oxidative-stress-and-parkin-mediated-mitochondrial-clearance
#19
K A Whelan, P M Chandramouleeswaran, K Tanaka, M Natsuizaka, M Guha, S Srinivasan, D S Darling, Y Kita, S Natsugoe, J D Winkler, A J Klein-Szanto, R K Amaravadi, N G Avadhani, A K Rustgi, H Nakagawa
High CD44 expression is associated with enhanced malignant potential in esophageal squamous cell carcinoma (ESCC), among the deadliest of all human carcinomas. Although alterations in autophagy and CD44 expression are associated with poor patient outcomes in various cancer types, the relationship between autophagy and cells with high CD44 expression remains incompletely understood. In transformed oesophageal keratinocytes, CD44(Low)-CD24(High) (CD44L) cells give rise to CD44(High)-CD24(-/Low) (CD44H) cells via epithelial-mesenchymal transition (EMT) in response to transforming growth factor (TGF)-β...
April 17, 2017: Oncogene
https://www.readbyqxmd.com/read/28408450/beyond-mitophagy-the-diversity-and-complexity-of-parkin-function
#20
Sarah E Shires, Richard N Kitsis, Åsa B Gustafsson
No abstract text is available yet for this article.
April 14, 2017: Circulation Research
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