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https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#1
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman Disease and Cholesteryl Ester Storage Disease (CESD)...
March 16, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#2
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#3
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28192621/orthopaedic-management-of-the-ehlers-danlos-syndromes
#4
William B Ericson, Roger Wolman
The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures fail. © 2017 Wiley Periodicals, Inc.
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28183748/morphology-of-wolman-cholesteryl-ester-storage-disease
#5
Robin M Ireland
No abstract text is available yet for this article.
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27897433/affinity-chromatography-matrices-for-depletion-and-purification-of-casein-glycomacropeptide-from-bovine-whey
#6
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
#7
REVIEW
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...
December 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
#8
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
#9
L Ben Hassine, L Lahmar, H Louati, W Douira, I Bellagha
No abstract text is available yet for this article.
November 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
#10
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
#11
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
#12
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...
July 6, 2016: ELife
https://www.readbyqxmd.com/read/27376161/sebelipase-alfa-enzymatic-replacement-treatment-for-lysosomal-acid-lipase-deficiency
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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