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https://www.readbyqxmd.com/read/27897433/affinity-chromatography-matrices-for-depletion-and-purification-of-casein-glycomacropeptide-from-bovine-whey
#1
María F Baieli, Nicolás Urtasun, María J Martinez, Daniela B Hirsch, Ana M R Pilosof, María V Miranda, Osvaldo Cascone, Federico J Wolman
Casein glycomacropeptide (CMP) is a 64- amino acid peptide found in cheese whey, which is released after κ-casein specific cleavage by chymosin. CMP lacks aromatic amino acids, a characteristic that makes it usable as a nutritional supplement for people with phenylketonuria. CMP consists of two nonglycosylated isoforms (aCMP A and aCMP B) and its different glycosylated forms (gCMP A and gCMP B). The most predominant carbohydrate of gCMP is N-acetylneuraminic acid (sialic acid). Here, we developed a CMP purification process based on the affinity of sialic acid for wheat germ agglutinin (WGA)...
November 7, 2016: Biotechnology Progress
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#2
James E Frampton
Sebelipase alfa (Kanuma(®), Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
November 23, 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27862509/psychometric-properties-of-the-air-self-determination-scale-the-chinese-version-air-sds-c-for-chinese-people-with-intellectual-disabilities
#3
P K S Wong, D F K Wong, X Y Zhuang, Y Liu
BACKGROUND: The construct of self-determination has received considerable attention in the international field of intellectual disabilities (ID). Recently, there has been a rapid development of this construct in Chinese societies including Hong Kong. However, there is no locally validated instrument to measure self-determination in people with ID. This article explains the validation process of the AIR Self-Determination Scale - Chinese version (AIR SDS-C) adapted from the 24-item AIR Self-Determination Scale, developed by Wolman and his colleagues, which is used in school setting...
November 11, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27720570/-wolman-disease
#4
L Ben Hassine, L Lahmar, H Louati, W Douira, I Bellagha
No abstract text is available yet for this article.
October 6, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27687975/novel-roles-for-the-radial-spoke-head-protein-9-in-neural-and-neurosensory-cilia
#5
Irina Sedykh, Jessica J TeSlaa, Rose L Tatarsky, Abigail N Keller, Kimberly A Toops, Aparna Lakkaraju, Molly K Nyholm, Marc A Wolman, Yevgenya Grinblat
Cilia are cell surface organelles with key roles in a range of cellular processes, including generation of fluid flow by motile cilia. The axonemes of motile cilia and immotile kinocilia contain 9 peripheral microtubule doublets, a central microtubule pair, and 9 connecting radial spokes. Aberrant radial spoke components RSPH1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characterized by ciliary dysmotility; yet, radial spoke functions remain unclear. Here we show that zebrafish Rsph9 is expressed in cells bearing motile cilia and kinocilia, and localizes to both 9 + 2 and 9 + 0 ciliary axonemes...
September 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27646529/ep10-09-fetus-in-fetu-malformation-a-very-early-prenatal-diagnosis-by-ultrasound-scan
#6
R Amster, U Erlik, J Har-Toov, I Wolman, G Malinger
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27383052/a-large-fraction-of-neocortical-myelin-ensheathes-axons-of-local-inhibitory-neurons
#7
Kristina D Micheva, Dylan Wolman, Brett D Mensh, Elizabeth Pax, JoAnn Buchanan, Stephen J Smith, Davi D Bock
Myelin is best known for its role in increasing the conduction velocity and metabolic efficiency of long-range excitatory axons. Accordingly, the myelin observed in neocortical gray matter is thought to mostly ensheath excitatory axons connecting to subcortical regions and distant cortical areas. Using independent analyses of light and electron microscopy data from mouse neocortex, we show that a surprisingly large fraction of cortical myelin (half the myelin in layer 2/3 and a quarter in layer 4) ensheathes axons of inhibitory neurons, specifically of parvalbumin-positive basket cells...
2016: ELife
https://www.readbyqxmd.com/read/27376161/sebelipase-alfa-enzymatic-replacement-treatment-for-lysosomal-acid-lipase-deficiency
#8
REVIEW
D M Paton
Sebelipase alfa was approved for use in 2015 for patients suffering from lysosomal acid lipase deficiency in either of its two forms. The more severe, early-onset form, Wolman disease, occurs in young infants in whom it is normally fatal within the first year of life. Sebelipase alfa has allowed a small number of such infants to achieve a relatively normal growth rate and to survive for 2 or more years. In older children and adults, the enzyme has corrected their dyslipidemia and produced significant improvement in markers of hepatic function...
May 2016: Drugs of Today
https://www.readbyqxmd.com/read/27127007/shwachman-diamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype
#9
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27094156/secondary-hemophagocytic-lymphohistiocytosis-in-an-infant-with-wolman-disease-hemophagocytosis-and-wolman-disease
#10
Aynur Küçükçongar Yavaş, Betül Orhaner, Pınar Genç, Nevin Kılıç, Hakan Erdoğan, Özlem Özdemir, Arzu Ekici
No abstract text is available yet for this article.
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/26965858/development-of-a-selective-activity-based-probe-for-glycosylated-lipa
#11
Adam G Schwaid, Wanida Ruangsiriluk, Allan R Reyes, Shawn Cabral, Francis Rajamohan, Meihua Tu, Jessica Ward, Philip A Carpino
Loss of LIPA activity leads to diseases such as Wolman's Disease and Cholesterol Ester Storage Disease. While it is possible to measure defects in LIPA protein levels, it is difficult to directly measure LIPA activity in cells. In order to measure LIPA activity directly we developed a LIPA specific activity based probe. LIPA is heavily glycosylated although it is unclear how glycosylation affects LIPA activity or function. Our probe is specific for a glycosylated form of LIPA in cells, although it labels purified LIPA regardless of glycosylation...
April 15, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/26960203/disorders-in-the-initial-steps-of-steroid-hormone-synthesis
#12
Walter L Miller
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. Disorders in these steps include Adrenoleukodystrophy, Wolman Disease and its milder variant Cholesterol Ester Storage Disease, and Niemann-Pick Type C Disease, all of which may present with adrenal insufficiency. The means by which cholesterol is directed to steroidogenic mitochondria remains incompletely understood. Once cholesterol reaches the outer mitochondrial membrane, its delivery to the inner mitochondrial membrane is regulated by the steroidogenic acute regulatory protein (StAR)...
March 6, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/26956108/insect-larvae-a-new-platform-to-produce-commercial-recombinant-proteins
#13
REVIEW
Alexandra M Targovnik, Mariana B Arregui, Lautaro F Bracco, Nicolas Urtasun, Maria F Baieli, Maria M Segura, Maria A Simonella, Mariela Fogar, Federico J Wolman, Osvaldo Cascone, Maria V Miranda
In Biotechnology, the expression of recombinant proteins is a constantly growing field and different hosts are used for this purpose. Some valuable proteins cannot be produced using traditional systems. Insects from the order Lepidoptera infected with recombinant baculovirus have appeared as a good choice to express high levels of proteins, especially those with post-translational modifications. Lepidopteran insects, which are extensively distributed in the world, can be used as small protein factories, the new biofactories...
2016: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/26890176/the-effect-of-community-based-prevention-and-care-on-ebola-transmission-in-sierra-leone
#14
Paul Pronyk, Braeden Rogers, Sylvia Lee, Aarunima Bhatnagar, Yaron Wolman, Roeland Monasch, David Hipgrave, Peter Salama, Adam Kucharski, Mickey Chopra
OBJECTIVES: To examine the acceptability, use, effects on early isolation, and contribution to Ebola virus disease (EVD) transmission of Community Care Centers (CCCs), which were rapidly deployed in Sierra Leone during an accelerated phase of the 2014-2015 EVD epidemic. METHODS: Focus group discussions, triads, and key informant interviews assessed acceptability of the CCCs. Facility registers, structured questionnaires, and laboratory records documented use, admission, and case identification...
April 2016: American Journal of Public Health
https://www.readbyqxmd.com/read/26843764/a-rare-constellation-of-imaging-findings-in-wolman-disease
#15
Debraj Sen, Lovleen Satija, Sudhir Saxena, Vikas Rastogi, Meenu Singh
No abstract text is available yet for this article.
December 2015: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/26602919/does-lysosomial-acid-lipase-reduction-play-a-role-in-adult-non-alcoholic-fatty-liver-disease
#16
REVIEW
Francesco Baratta, Daniele Pastori, Licia Polimeni, Giulia Tozzi, Francesco Violi, Francesco Angelico, Maria Del Ben
Lysosomal Acid Lipase (LAL) is a key enzyme involved in lipid metabolism, responsible for hydrolysing the cholesteryl esters and triglycerides. Wolman Disease represents the early onset phenotype of LAL deficiency rapidly leading to death. Cholesterol Ester Storage Disease is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia, the latter characterized by elevated LDL-C and low HDL-C. The natural history and the clinical manifestations of the LAL deficiency in adults are not well defined, and the diagnosis is often incidental...
2015: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/26598617/protocadherins-control-the-modular-assembly-of-neuronal-columns-in-the-zebrafish-optic-tectum
#17
Sharon R Cooper, Michelle R Emond, Phan Q Duy, Brandon G Liebau, Marc A Wolman, James D Jontes
Cell-cell recognition guides the assembly of the vertebrate brain during development. δ-Protocadherins comprise a family of neural adhesion molecules that are differentially expressed and have been implicated in a range of neurodevelopmental disorders. Here we show that the expression of δ-protocadherins partitions the zebrafish optic tectum into radial columns of neurons. Using in vivo two-photon imaging of bacterial artificial chromosome transgenic zebrafish, we show that pcdh19 is expressed in discrete columns of neurons, and that these columnar modules are derived from proliferative pcdh19(+) neuroepithelial precursors...
November 23, 2015: Journal of Cell Biology
https://www.readbyqxmd.com/read/26535872/acute-effects-of-vitamin-d3-supplementation-on-muscle-strength-in-judoka-athletes-a-randomized-placebo-controlled-double-blind-trial
#18
Matthew A Wyon, Roger Wolman, Alan M Nevill, Ross Cloak, George S Metsios, Douglas Gould, Andrew Ingham, Yiannis Koutedakis
OBJECTIVE: Indoor athletes have been shown to be prone to vitamin D3 deficiency. The aim of the study was to examine the acute effects of vitamin D supplementation on muscle function using isokinetic dynamometry. DESIGN: Randomized placebo-controlled, double-blind study. SETTING: Institutional. PARTICIPANTS: Adult male white national level judoka athletes (n = 22) who were involved in full-time training. Exclusion criteria were vitamin supplementation, overseas travel to sunny climes, and/or an injury incurred during the last 3 months before testing...
July 2016: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/26492963/influenza-vaccination-is-safe-and-effective-in-patients-suffering-from-fibromyalgia-syndrome
#19
J N Ablin, V Aloush, A Brill, M Berman, M Barzilai, D Caspi, M Mandelboim, D Levartovsky, A Polachek, Y Wolman, D Paran, M Barkagan, O Elkayam
The fibromyalgia syndrome (FMS) is considered to result from the exposure of a genetically susceptible individual to various triggers, such as physical trauma, stress, viral infections etc. A possible role of vaccination in FMS etiology has been suspected. Our objective was to evaluate the efficacy and safety of influenza vaccination in FMS patients. Nineteen FMS patients underwent physical and dolorimetric examinations and answered the fibromyalgia impact questionnaire (FIQ), the widespread pain index (WPI) checklist and the symptoms severity scale (SSS), which are part of the 2010 diagnostic criteria...
2015: Reumatismo
https://www.readbyqxmd.com/read/26283692/prd125-a-potent-and-selective-inhibitor-of-sterol-o-acyltransferase-2-markedly-reduces-hepatic-cholesteryl-ester-accumulation-and-improves-liver-function-in-lysosomal-acid-lipase-deficient-mice
#20
Adam M Lopez, Jen-Chieh Chuang, Kenneth S Posey, Taichi Ohshiro, Hiroshi Tomoda, Lawrence L Rudel, Stephen D Turley
In most organs, the bulk of cholesterol is unesterified, although nearly all possess a varying capability of esterifying cholesterol through the action of either sterol O-acyltransferase (SOAT) 1 or, in the case of hepatocytes and enterocytes, SOAT2. Esterified cholesterol (EC) carried in plasma lipoproteins is hydrolyzed by lysosomal acid lipase (LAL) when they are cleared from the circulation. Loss-of-function mutations in LIPA, the gene that encodes LAL, result in Wolman disease or cholesteryl ester storage disease (CESD)...
November 2015: Journal of Pharmacology and Experimental Therapeutics
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