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Lysosomal storage diseases

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https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#1
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28713035/intracerebral-gene-therapy-in-children-with-mucopolysaccharidosis-type-iiib-syndrome-an-uncontrolled-phase-1-2-clinical-trial
#2
Marc Tardieu, Michel Zérah, Marie-Lise Gougeon, Jérome Ausseil, Stéphanie de Bournonville, Béatrice Husson, Dimitrios Zafeiriou, Giancarlo Parenti, Philippe Bourget, Béatrice Poirier, Valérie Furlan, Cécile Artaud, Thomas Baugnon, Thomas Roujeau, Ronald G Crystal, Christian Meyer, Kumaran Deiva, Jean-Michel Heard
BACKGROUND: Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive acquisition after age 2-4 years. No treatment is available for the neurological manifestations of the disease. We sought to assess the safety and efficacy of a novel intracerebral gene therapy. METHODS: Local regulatory authorities in France allowed inclusion of up to four children in this phase 1/2 study...
July 13, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28707754/non-sibling-hematopoietic-stem-cell-transplantation-using-myeloablative-conditioning-regimen-in-children-with-maroteaux-lamy-syndrome-a-brief-report
#3
Maryam Behfar, S Sharareh Dehghani, Tahereh Rostami, Ardeshir Ghavamzadeh, Amir Ali Hamidieh
Maroteaux-Lamy syndrome is a rare inherited lysosomal storage disorder with a progressive course. HSCT is a curable option for treatment in these patients. The following report describes our experience in HSCT for three patients with Maroteaux-Lamy syndrome using non-sibling donors. All of the patients received the same myeloablative regimen consisting of intravenous busulfan, cyclophosphamide, and rabbit antithymocyte globulin. Patients underwent HSCT from haploidentical other-related (n=1), full-matched other-related (n=1), and one-locus-mismatched unrelated donor...
August 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28703315/using-whole-exome-sequencing-to-investigate-the-genetic-bases-of-lysosomal-storage-diseases-of-unknown-etiology
#4
Nan Wang, Yeting Zhang, Erika Gedvilaite, Jui Wan Loh, Timothy Lin, Xiuping Liu, Chang-Gong Liu, Dibyendu Kumar, Robert Donnelly, Kimiyo Raymond, Edward H Schuchman, David E Sleat, Peter Lobel, Jinchuan Xing
Lysosomes are membrane-bound, acidic eukaryotic cellular organelles that play important roles in the degradation of macromolecules. Mutations that cause the loss of lysosomal protein function can lead to a group of disorders categorized as the lysosomal storage diseases (LSDs). Suspicion of LSD is frequently based on clinical and pathologic findings, but in some cases, the underlying genetic and biochemical defects remain unknown. Here, we performed whole exome sequencing (WES) on 14 suspected LSD cases to evaluate the feasibility of using WES for identifying causal mutations...
July 12, 2017: Human Mutation
https://www.readbyqxmd.com/read/28702876/cardiovascular-histopathology-of-a-11-year-old-with-mucopolysaccharidosis-vii-demonstrates-fibrosis-macrophage-infiltration-and-arterial-luminal-stenosis
#5
Valerie Lew, Louis Pena, Robert Edwards, Raymond Y Wang
Mucopolysaccharidosis type VII (MPS VII) is caused by β-glucuronidase deficiency, resulting in lysosomal accumulation of glycosaminoglycans (GAGs) and multisystemic disease. We present cardiovascular gross and histopathology findings from a 11-year-old MPS VII male, who expired after developing ventricular fibrillation following anesthesia induction. Gross anatomic observations were made at autopsy; postmortem formalin-fixed paraffin-embedded samples of the carotid artery, aorta, myocardium, and valves were sectioned and stained with hematoxylin-eosin, Verhoeff-Van Gieson, CD68, and trichrome stains...
July 13, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28702361/home-infusion-program-with-enzyme-replacement-therapy-for-fabry-disease-the-experience-of-a-large-italian-collaborative-group
#6
D Concolino, L Amico, M D Cappellini, E Cassinerio, M Conti, M A Donati, F Falvo, A Fiumara, M Maccarone, R Manna, A Matucci, M B Musumeci, A Nicoletti, R Nisticò, F Papadia, R Parini, D Peluso, L Pensabene, A Pisani, G Pistone, M Rigoldi, I Romani, M Tenuta, G Torti, M Veroux, E Zachara
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28695759/diffusion-tensor-imaging-findings-suggestive-of-white-matter-alterations-in-a-canine-model-of-mucopolysaccharidosis-type-i
#7
Dana M Middleton, Jonathan Y Li, Steven D Chen, Leonard E White, Patricia Dickson, N Matthew Ellinwood, James M Provenzale
Purpose We investigated fractional anisotropy (FA) and radial diffusivity (RD) in a canine model of mucopolysaccharidosis (MPS). We hypothesized that canines affected with MPS would exhibit decreased FA and increased RD values when compared to unaffected canines, a trend that has been previously described in humans with white matter diseases. Methods Four unaffected canines and two canines with MPS were euthanized at 18 weeks of age. Their brains were imaged using high-resolution diffusion tensor imaging (DTI) on a 7T small-animal magnetic resonance imaging system...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28688718/evolution-of-cardiac-pathology-in-classic-fabry-disease-progressive-cardiomyocyte-enlargement-leads-to-increased-cell-death-and-fibrosis-and-correlates-with-severity-of-ventricular-hypertrophy%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2
#8
Andrea Frustaci, Cristina Chimenti, Dana Doheny, Robert J Desnick
BACKGROUND: Fabry disease, an X-linked lysosomal storage disease, results from deficient α-galactosidase A (α-GalA) activity and the systemic accumulation of α-galactosyl-terminated glycosphingolipids. Two major phenotypes, "Classic" and "Later-Onset", lead to renal failure, and/or cardiac disease, and early demise. To date, the evolution and progression of the cardiac pathology and resultant clinical manifestations in family members of phenotype have not been well characterized. METHODS AND RESULTS: In a Classic family with nine affected members (GLA mutation c...
June 23, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#9
REVIEW
Donato Rigante, Clelia Cipolla, Umberto Basile, Francesca Gulli, Maria Cristina Savastano
The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena...
July 4, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28680430/human-alpha-galactosidases-transiently-produced-in-nicotiana-benthamiana-leaves-new-insights-in-substrate-specificities-with-relevance-for-fabry-disease
#10
Kassiani Kytidou, Thomas J M Beenakker, Lotte B Westerhof, Cornelis H Hokke, Geri F Moolenaar, Nora Goosen, Mina Mirzaian, Maria J Ferraz, Mark de Geus, Wouter W Kallemeijn, Herman S Overkleeft, Rolf G Boot, Arjen Schots, Dirk Bosch, Johannes M F G Aerts
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes and nociceptive neurons. Enzyme replacement therapy is used to treat the disease, but clinical efficacy is limited in many male FD patients due to development of neutralizing antibodies (Ab). Therapeutic use of modified lysosomal α-N-acetyl-galactosaminidase (α-NAGAL) with increased α-galactosidase activity (α-NAGAL(EL)) has therefore been suggested...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28679281/lipid-mediated-modulation-of-intracellular-ion-channels-and-redox-state-physio-pathological-implications
#11
Marisa Brini, Luigi Leanza, Ildiko Szabo
<i>Significance</i>: Ion channels play an important role in the regulation of organelle function within the cell, as proven by increasing evidence pointing to a link between altered function of intracellular ion channels and different pathologies ranging from cancer to neurodegenerative diseases, ischemic damage and lysosomal storage diseases. <i>Recent Advances</i>: A link between these pathologies and redox state as well as lipid homeostasis and ion channel function is in the focus of current research...
July 5, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28678158/early-hippocampal-i-ltp-and-lox-1-overexpression-induced-by-anoxia-a-potential-role-in-neurodegeneration-in-npc-mouse-model
#12
Adriana Lo Castro, Michela Murdocca, Sabina Pucci, Anna Zaratti, Chiara Greggi, Federica Sangiuolo, Virginia Tancredi, Claudio Frank, Giovanna D'Arcangelo
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endo-lysosomal compartment of cells. In the central nervous system, hypoxic insults could result in low-density lipoprotein (LDL) oxidation and Lectin-like oxidized LDL receptor-1 (LOX-1) induction, leading to a pathological hippocampal response, namely, ischemic long-term potentiation (i-LTP). These events may correlate with the progressive neural loss observed in NPCD...
July 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28673981/synergistic-effects-of-treating-the-spinal-cord-and-brain-in-cln1-disease
#13
Charles Shyng, Hemanth R Nelvagal, Joshua T Dearborn, Jaana Tyynelä, Robert E Schmidt, Mark S Sands, Jonathan D Cooper
Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a deficiency of the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). It was widely believed that the pathology associated with INCL was limited to the brain, but we have now found unexpectedly profound pathology in the human INCL spinal cord. Similar pathological changes also occur at every level of the spinal cord of PPT1-deficient (Ppt1(-/-) ) mice before the onset of neuropathology in the brain...
July 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28668140/clinical-features-diagnosis-and-management-of-patients-with-anderson-fabry-cardiomyopathy
#14
REVIEW
Haran Yogasundaram, Daniel Kim, Omar Oudit, Richard B Thompson, Frank Weidemann, Gavin Y Oudit
Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in its deficiency, or complete absence of activity. Subsequent progressive intracellular accumulation of glycosphingolipids, predominantly globotriaosylceramide, in various tissues, results in progressive organ dysfunction and failure, most commonly affecting the kidneys, nervous system, skin, eyes, vascular endothelium, and the heart...
July 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28665546/astroglial-vesicular-network-evolutionary-trends-physiology-and-pathophysiology
#15
REVIEW
Robert Zorec, Vladimir Parpura, Alexei Verkhratsky
Intracellular organelles, including secretory vesicles, emerged when eukaryotic cells evolved some 3 billion years ago. The primordial organelles that evolved in Archaea were similar to endolysosomes, which developed, arguably, for specific metabolic tasks, including uptake, metabolic processing, storage and disposal of molecules. In comparison to prokaryotes, cell volume of eukaryotes increased by several orders of magnitude and vesicle traffic emerged to allow for communication between distant intracellular locations...
June 30, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28664165/clearance-of-heparan-sulfate-and-attenuation-of-cns-pathology-by-intracerebroventricular-bmn-250-in-sanfilippo-type-b-mice
#16
Mika Aoyagi-Scharber, Danielle Crippen-Harmon, Roger Lawrence, Jon Vincelette, Gouri Yogalingam, Heather Prill, Bryan K Yip, Brian Baridon, Catherine Vitelli, Amanda Lee, Olivia Gorostiza, Evan G Adintori, Wesley C Minto, Jeremy L Van Vleet, Bridget Yates, Sara Rigney, Terri M Christianson, Pascale M N Tiger, Melanie J Lo, John Holtzinger, Paul A Fitzpatrick, Jonathan H LeBowitz, Sherry Bullens, Brett E Crawford, Stuart Bunting
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB), caused by inherited deficiency of α-N-acetylglucosaminidase (NAGLU), required for lysosomal degradation of heparan sulfate (HS), is a pediatric neurodegenerative disorder with no approved treatment. Intracerebroventricular (ICV) delivery of a modified recombinant NAGLU, consisting of human NAGLU fused with insulin-like growth factor 2 (IGF2) for enhanced lysosomal targeting, was previously shown to result in marked enzyme uptake and clearance of HS storage in the Naglu(-/-) mouse brain...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28663131/correlation-of-lyso-gb3-levels-in-dried-blood-spots-and-sera-from-patients-with-classic-and-later-onset-fabry-disease
#17
Albina Nowak, Thomas Mechtler, David C Kasper, Robert J Desnick
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and "Later-Onset" phenotypes. METHODS: The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry...
June 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28662611/cognition-and-anatomy-of-adult-niemann-pick-disease-type-c-insights-for-the-alzheimer-field
#18
David Bergeron, Stéphane Poulin, Robert Laforce
Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder causing an intracellular lipid trafficking defect and varying damage to the spleen, liver, and central nervous system. The adult form, representing approximately 20% of the cases, is associated with progressive cognitive decline. Intriguingly, brains of adult NPC patients exhibit neurofibrillary tangles, a characteristic hallmark of Alzheimer's disease (AD). However, the cognitive, psychiatric, and neuropathological features of adult NPC and their relation to AD have yet to be explored...
June 30, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28662189/affective-and-cognitive-behavior-in-the-alpha-galactosidase-a-deficient-mouse-model-of-fabry-disease
#19
Lukas Hofmann, Franziska Karl, Claudia Sommer, Nurcan Üçeyler
Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Young (3 months) and old (≥ 18 months) mice were tested in the naïve state and after i...
2017: PloS One
https://www.readbyqxmd.com/read/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#20
REVIEW
Adeline A Lau, Kim M Hemsley
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome)...
June 29, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
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