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https://www.readbyqxmd.com/read/29346563/lc3-immunostaining-in-the-inferior-olivary-nuclei-of-cats-with-niemann-pick-disease-type-c1-is-associated-with-patterned-purkinje-cell-loss
#1
Brittney L Gurda, Jessica H Bagel, Samantha J Fisher, Mark L Schultz, Andrew P Lieberman, Peter Hand, Charles H Vite, Gary P Swain
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholesterol and multiple sphingolipids in neurons, and the spatial and temporal distribution of Purkinje cell death. In feline NPC1 brain, microtubule-associated protein 1 light chain 3 (LC3) accumulations, indicating autophagosomes, were found within axons and presynaptic terminals...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29343665/molecular-characterization-of-gliadins-of-chinese-spring-wheat-in-relation-to-celiac-disease-elicitors
#2
Kanako Kawaura, Mayuko Miura, Yoko Kamei, Tatsuya M Ikeda, Yasunari Ogihara
The wheat seed storage proteins gliadin and glutenin are encoded by multigenes. Gliadins are further classified into α-, γ-, δ- and ω-gliadins. Genes encoding α-gliadins belong to a large multigene family, whose members are located on the homoeologous group 6 chromosomes at the Gli-2 loci. Genes encoding other gliadins are located on the homoeologous group 1 chromosomes at the Gli-1 loci. Two-dimensional polyacrylamide gel electrophoresis (2-DE) was used to characterize and profile the gliadins. The gliadins in aneuploid Chinese Spring wheat lines were then compared in this study...
January 17, 2018: Genes & Genetic Systems
https://www.readbyqxmd.com/read/29342918/abnormal-sphingolipid-world-in-inflammation-specific-for-lysosomal-storage-diseases-and-skin-disorders
#3
REVIEW
Marta Moskot, Katarzyna Bocheńska, Joanna Jakóbkiewicz-Banecka, Bogdan Banecki, Magdalena Gabig-Cimińska
Research in recent years has shown that sphingolipids are essential signalling molecules for the proper biological and structural functioning of cells. Long-term studies on the metabolism of sphingolipids have provided evidence for their role in the pathogenesis of a number of diseases. As many inflammatory diseases, such as lysosomal storage disorders and some dermatologic diseases, including psoriasis, atopic dermatitis and ichthyoses, are associated with the altered composition and metabolism of sphingolipids, more studies precisely determining the responsibilities of these compounds for disease states are required to develop novel pharmacological treatment opportunities...
January 15, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29342854/impact-of-prolonged-blood-incubation-and-extended-serum-storage-at-room-temperature-on-the-human-serum-metabolome
#4
Beate Kamlage, Sebastian Neuber, Bianca Bethan, Sandra González Maldonado, Antje Wagner-Golbs, Erik Peter, Oliver Schmitz, Philipp Schatz
Metabolomics is a powerful technology with broad applications in life science that, like other -omics approaches, requires high-quality samples to achieve reliable results and ensure reproducibility. Therefore, along with quality assurance, methods to assess sample quality regarding pre-analytical confounders are urgently needed. In this study, we analyzed the response of the human serum metabolome to pre-analytical variations comprising prolonged blood incubation and extended serum storage at room temperature by using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) -based metabolomics...
January 13, 2018: Metabolites
https://www.readbyqxmd.com/read/29341865/evidence-of-genetic-predisposition-for-metabolically-healthy-obesity-and-metabolically-obese-normal-weight
#5
Lam Opal Huang, Ruth Loos, Tuomas Oskari Kilpeläinen
Obesity has evolved into a global pandemic, which constitutes a major threat to public health. The majority of obesity-related health care costs are due to cardiometabolic complications, such as insulin resistance, dyslipidemia, and hypertension, which are risk factors for type 2 diabetes and cardiovascular disease. However, many obese individuals, often called metabolically healthy obese (MHO), seem to be protected from these cardiometabolic complications. Conversely, there is a group of individuals who suffer from cardiometabolic complications despite being of normal weight; a condition termed metabolically obese normal weight (MONW)...
December 20, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/29339442/specific-substrate-for-the-assay-of-lysosomal-acid-lipase
#6
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL...
January 16, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29336595/exploitation-of-microbial-antagonists-for-the-control-of-postharvest-diseases-of-fruits-a-review
#7
Ajinath Shridhar Dukare, Sangeeta Paul, V Eyarkai Nambi, Ram Kishore Gupta, Rajbir Singh, Kalyani Sharma, Rajesh Kumar Vishwakarma
Fungal diseases result in significant losses of fruits and vegetables during handling, transportation and storage. At present, post-production fungal spoilage is predominantly controlled by using synthetic fungicides. Under the global climate change scenario and with the need for sustainable agriculture, biological control methods of fungal diseases, using antagonistic microorganisms, are emerging as ecofriendly alternatives to the use of fungicides. The potential of microbial antagonists, isolated from a diversity of natural habitats, for postharvest disease suppression has been investigated...
January 16, 2018: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/29336260/adipocytes-and-abdominal-aortic-aneurysm-putative-potential-role-of-adipocytes-in-the-process-of-aaa-development
#8
Hirona Kugo, Tatsuya Moriyama, Nobuhiro Zaima
Background Adipose tissue plays a role in the storage of excess energy as triglycerides (TGs). Excess fat accumulation causes various metabolic and cardiovascular diseases. It has been reported that ectopic fat deposition and excess TG accumulation in non-adipose tissue might be important predictors of cardiometabolic and vascular risk. For example, ectopic fat in perivascular tissue promotes atherosclerotic plaque formation in the arterial wall. Objective Recently, it has been reported that ectopic fat (adipocyte) in the vascular wall of an abdominal aortic aneurysm (AAA) is present in both human and experimental animal models...
January 15, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29331050/exercise-counteracts-lipotoxicity-by-improving-lipid-turnover-and-lipid-droplet-quality
#9
Evelyn Zacharewicz, Matthijs K C Hesselink, Patrick Schrauwen
The incidence of obesity and metabolic disease, such as type 2 diabetes mellitus (T2D), are rising globally. Dietary lipid over-supply leads to lipid accumulation at ectopic sites, such as skeletal muscle. Ectopic lipid storage is highly correlated with insulin resistance and T2D, likely due to a loss of metabolic flexibility - the capacity to switch between fat and glucose oxidation upon insulin stimulation - and cellular dysfunction because of lipotoxicity. However, muscle lipid levels are also elevated in endurance trained athletes, presenting a paradoxical phenotype of increased intramuscular lipids along with high insulin sensitivity - the "athletes' paradox"...
January 13, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29330335/fabry-disease-prevalence-of-affected-males-and-heterozygotes-with-pathogenic-gla-mutations-identified-by-screening-renal-cardiac-and-stroke-clinics-1995-2017
#10
Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda, Robert J Desnick
BACKGROUND: Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29327509/proteomic-expression-profile-of-injured-rat-peripheral-nerves-revealed-biological-networks-and-processes-associated-with-nerve-regeneration
#11
D Vergara, A Romano, E Stanca, V La Pesa, A L Aloisi, S De Domenico, J Franck, I Cicalini, A M Giudetti, E Storelli, D Pieragostino, I Fournier, A Sannino, M Salzet, F Cerri, A Quattrini, M Maffia
Peripheral nerve regeneration is regulated through the coordinated spatio-temporal activation of multiple cellular pathways. In this work, an integrated proteomics and bioinformatics approach was employed to identify differentially expressed proteins at the injury-site of rat sciatic nerve at 20 days after damage. By a label-free liquid chromatography mass-spectrometry (LC-MS/MS) approach, we identified 201 differentially proteins that were assigned to specific canonical and disease and function pathways. These include proteins involved in cytoskeleton signaling and remodeling, acute phase response, and cellular metabolism...
January 12, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29327028/transition-metals-and-trace-elements-in-the-retinal-pigment-epithelium-and-choroid-correlative-ultrastructural-and-chemical-analysis-by-analytical-electron-microscopy-and-nano-secondary-ion-mass-spectrometry
#12
Antje Biesemeier, Oliver Eibl, Santhana Eswara, Jean-Nicolas Audinot, Tom Wirtz, Ulrich Schraermeyer
Understanding the localisation and abundance of structural elements, trace elements and especially transition metals like Cu and Zn in ocular tissue sections is important for physiology, and also for the characterisation of diseases related to oxidative stress like age-related macular degeneration. Transition metal abundances were investigated in an aged donor eye by nano-secondary ion mass spectrometry (nano-SIMS) elemental mapping using Cs+ and O- primary ions, respectively, and correlated to their respective mole fractions investigated by analytical electron microscopy (AEM)...
January 12, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#13
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#14
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#15
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29325298/-a-case-of-glycogen-storage-disease-type-ii-and-related-analysis
#16
J M Han, L Y Zhang, L Sun, Y Lu, M H Li
No abstract text is available yet for this article.
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29325092/intravenous-administration-of-scaav9-hexb-normalizes-lifespan-and-prevents-pathology-in-sandhoff-disease-mice
#17
Natalia Niemir, Laura Rouvière, Aurore Besse, Marie T Vanier, Jasmin Dmytrus, Thibaut Marais, Stéphanie Astord, Jean-Philippe Puech, Ganna Panasyuk, Jonathan D Cooper, Martine Barkats, Catherine Caillaud
Sandhoff disease (SD) is a rare inherited disorder caused by a deficiency of β-hexosaminidase activity which is fatal because no effective treatment is available. A mouse model of Hexb deficiency reproduces the key pathognomonic features of SD patients with severe ubiquitous lysosomal dysfunction, GM2 accumulation, neuroinflammation and neurodegeneration, culminating in death at 4 months. Here, we show that a single intravenous neonatal administration of a self-complementary adeno-associated virus 9 vector (scAAV9) expressing the Hexb cDNA in SD mice is safe and sufficient to prevent disease development...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29325023/the-extending-spectrum-of-npc1-related-human-disorders-from-niemann-pick-c1-disease-to-obesity
#18
Amel Lamri, Marie Pigeyre, William S Garver, David Meyre
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol and fatty acids from late endosomes / lysosomes and has a central role in maintaining lipid homeostasis. NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal-recessive lipid-storage disorder characterized by progressive and lethal neurodegeneration, liver and lung failure, due to cholesterol infiltration. In humans, genome wide association studies (GWAS) and post-GWAS reports highlight the implication of common variants in NPC1 in adult-onset obesity, body fat mass, and type 2 diabetes...
January 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29324518/the-dawn-of-liver-perfusion-machines
#19
Danielle Detelich, James F Markmann
PURPOSE OF REVIEW: Despite high demand, a severe shortage of suitable allografts limits the use of liver transplantation for the treatment of end-stage liver disease. The transplant community is turning to the utilization of high-risk grafts to fill the void. This review summarizes the reemergence of ex-vivo machine perfusion for liver graft preservation, including results of recent clinical trials and its specific role for reconditioning DCD, steatotic and elderly grafts. RECENT FINDINGS: Several phase-1 clinical trials demonstrate the safety and feasibility of machine perfusion for liver graft preservation...
January 9, 2018: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/29323242/adipose-specific-lipin1-overexpression-in-mice-protects-against-alcohol-induced-liver-injury
#20
Wenliang Zhang, Wei Zhong, Qian Sun, Xinguo Sun, Zhanxiang Zhou
Excessive fatty acid release from the white adipose tissue (WAT) contributes to the development of alcoholic liver disease (ALD). Lipin1 (LPIN1), as a co-regulator of DNA-bound transcription factors and a phosphatidic acid (PA) phosphatase (PAP) enzyme that dephosphorylates PA to form diacylglycerol (DAG), is dramatically reduced by alcohol in the WAT. This study aimed at determining the role of adipose LPIN1 in alcohol-induced lipodystrophy and the development of ALD. Transgenic mice overexpressing LPIN1 in adipose tissue (LPIN1-Tg) and wild type (WT) mice were fed a Lieber-DeCarli alcohol or isocaloric maltose dextrin control liquid diet for 8 weeks...
January 11, 2018: Scientific Reports
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