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https://www.readbyqxmd.com/read/29451150/identification-of-seven-novel-mutations-in-the-acid-alpha-glucosidase-gene-in-five-chinese-patients-with-late-onset-pompe-disease
#1
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted...
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#2
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
February 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29446145/neuronal-ceroid-lipofuscinosis-in-salukis-is-caused-by-a-single-base-pair-insertion-in-cln8
#3
F Lingaas, O-A Guttersrud, E Arnet, A Espenes
Neuronal ceroid lipofuscinoses (NCLs) are heterogenic inherited lysosomal storage diseases that have been described in a number of species including humans, sheep, cattle, cats and a number of different dog breeds, including Salukis. Here we present a novel genetic variant associated with the disease in this particular breed of dog. In a clinical case, a Saluki developed progressive neurological signs, including disorientation, anxiety, difficulties in eating, seizures and loss of vision, and for welfare reasons, was euthanized at 22 months of age...
February 2018: Animal Genetics
https://www.readbyqxmd.com/read/29439846/diagnostic-challenge-for-the-rare-lysosomal-storage-disease-late-infantile-gm1-gangliosidosis
#4
Jin Sook Lee, Jong-Moon Choi, Moses Lee, Soo Yeon Kim, Sangmoon Lee, Byung Chan Lim, Jung-Eun Cheon, In-One Kim, Ki Joong Kim, Murim Choi, Moon-Woo Seong, Jong-Hee Chae
BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity...
February 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/29438268/endocytosis-of-red-blood-cell-microparticles-by-pulmonary-endothelial-cells-is-mediated-by-rab5
#5
Young Kim, William A Abplanalp, Andrew D Jung, Rebecca M Schuster, Alex B Lentsch, Erich Gulbins, Charles C Caldwell, Timothy A Pritts
Microparticles are submicron vesicles shed from aging erythrocytes as a characteristic feature of the red blood cell (RBC) storage lesion. Exposure of pulmonary endothelial cells to RBC-derived microparticles promotes an inflammatory response, but the mechanisms underlying microparticle-induced endothelial cell activation are poorly understood. In the present study, cultured murine lung endothelial cells (MLECs) were treated with microparticles isolated from aged murine packed RBCs or vehicle. Microparticle-treated cells demonstrated increased expression of the adhesion molecules ICAM and E-selectin, as well as the cytokine, IL-6...
March 2018: Shock
https://www.readbyqxmd.com/read/29431050/tdp-43-post-translational-modifications-in-health-and-disease
#6
Emanuele Buratti
Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that plays a key causative role in several neurodegenerative diseases, especially in the ALS/FTD spectrum. In addition, its aberrant aggregation and expression has been recently observed in other type of diseases, such as myopathies and Niemann-Pick C, a lysosomal storage disease. Areas Covered. This review aims to specifically cover the post-translational modifications (PTMs) that can affect TDP-43 function and cellular status both in health and disease...
February 10, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29422008/lysosomal-potassium-channels-potential-roles-in-lysosomal-function-and-neurodegenerative-diseases
#7
Xinghua Feng, Zhuangzhuang Zhao, Qian Li, Zhiyong Tan
The lysosome is a membrane-enclosed organelle widely found in every eukaryotic cell. It has been deemed as the stomach of the cells. Recent studies revealed that it also functions as an intracellular calcium store and is a platform for nutrient-dependent signal transduction. Similar with the plasma membrane, the lysosome membrane is furnished with various proteins, including pumps, ion channels and transporters. So far, two types of lysosomal potassium channels have been identified: large-conductance and Ca2+-activated potassium channel (BK) and TMEM175...
February 1, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29415500/impact-characterization-and-rescue-of-pre-mrna-splicing-mutations-in-lysosomal-storage-disorders
#8
REVIEW
Andrea Dardis, Emanuele Buratti
Lysosomal storage disorders (LSDs) represent a group of more than 50 severe metabolic diseases caused by the deficiency of specific lysosomal hydrolases, activators, carriers, or lysosomal integral membrane proteins, leading to the abnormal accumulation of substrates within the lysosomes. Numerous mutations have been described in each disease-causing gene; among them, about 5-19% affect the pre-mRNA splicing process. In the last decade, several strategies to rescue/increase normal splicing of mutated transcripts have been developed and LSDs represent excellent candidates for this type of approach: (i) most of them are inherited in an autosomic recessive manner and patients affected by late-onset (LO) phenotypes often retain a fair amount of residual enzymatic activity; thus, even a small recovery of normal splicing may be beneficial in clinical settings; (ii) most LSDs still lack effective treatments or are currently treated with extremely expensive approaches; (iii) in few LSDs, a single splicing mutation accounts for up to 40-70% of pathogenic alleles...
February 6, 2018: Genes
https://www.readbyqxmd.com/read/29414417/generation-of-novel-induced-pluripotent-stem-cell-ipsc-line-from-a-16-year-old-sialidosis-patient-with-neu-1-gene-mutation
#9
Shih-Ping Liu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Huai-En Lu, Chon-Haw Tsai, Woei-Cherng Shyu, Patrick C H Hsieh
Sialidosis is a rare autosomal recessive disorder that affects the intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in NEU1, which encodes the sialidase enzyme, result in sialidosis. Sialidosis is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29411268/a-phase-1-pharmacokinetic-study-of-cysteamine-bitartrate-delayed-release-capsules-following-oral-administration-with-orange-juice-water-or-omeprazole-in-cystinosis
#10
Danielle Armas, Robert J Holt, Nils F Confer, Gregg C Checani, Mohammad Obaidi, Yuli Xie, Meg Brannagan
INTRODUCTION: Cystinosis is a rare, metabolic, autosomal recessive, genetic lysosomal storage disorder characterized by an accumulation of cystine in various organs and tissues. Cysteamine bitartrate (CB) is a cystine-depleting aminothiol agent approved in the United States and Europe in immediate-release and delayed-release (DR) formulations for the treatment of nephropathic cystinosis in children and adults. It is recommended that CBDR be administered with fruit juice (except grapefruit juice) for maximum absorption...
February 6, 2018: Advances in Therapy
https://www.readbyqxmd.com/read/29408731/neuronal-specific-impairment-of-heparan-sulfate-degradation-in-drosophila-reveals-pathogenic-mechanisms-for-mucopolysaccharidosis-type-iiia
#11
Dani L Webber, Amanda Choo, Laura J Hewson, Paul J Trim, Marten F Snel, John J Hopwood, Robert I Richards, Kim M Hemsley, Louise V O'Keefe
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder resulting from the deficit of the N-sulfoglucosamine sulfohydrolase (SGSH) enzyme that leads to accumulation of partially-degraded heparan sulfate. MPS IIIA is characterized by severe neurological symptoms, clinically presenting as Sanfilippo syndrome, for which no effective therapy is available. The lysosomal SGSH enzyme is conserved in Drosophila and we have identified increased levels of heparan sulfate in flies with ubiquitous knockdown of SGSH/CG14291...
February 1, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29401392/label-free-imaging-of-heme-dynamics-in-living-organisms-by-transient-absorption-microscopy
#12
Andy Jing Chen, Xiaojing Yuan, Junjie Li, Puting Dong, Iqbal Hamza, Ji-Xin Cheng
Heme, a hydrophobic and cytotoxic macrocycle, is an essential cofactor in a large number of proteins and is important for cell signaling. This must mean that heme is mobilized from its place of synthesis or entry into the cell to other parts of the cell where hemoproteins reside. However, the cellular dynamics of heme movement is not well understood, in large part due to the inability to image heme non-invasively in live biological systems. Here, using high-resolution transient absorption (TA) microscopy, we showed that heme storage and distribution is dynamic in C...
February 5, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29396849/saamp-2-0-an-algorithm-to-predict-genotype-phenotype-correlation-of-lysosomal-storage-diseases
#13
Li Ou, Michael J Przybilla, Chester B Whitley
Lysosomal storage diseases (LSDs) are a group of genetic disorders, resulting from deficiencies of lysosomal enzyme. Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes of 7 bioinformatics tools, we developed a SAAMP algorithm to predict the impact of individual amino acid substitution. To optimize this approach, we evaluated the performance of these bioinformatics tools in a broad array of genes. PolyPhen and PROVEAN had the best performances, while SNP&GOs, PANTHER and I-Mutant had the worst performances...
February 2, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29396266/rescue-of-gsdiii-phenotype-with-gene-transfer-requires-liver-and-muscle-targeted-gde-expression
#14
Patrice Vidal, Serena Pagliarani, Pasqualina Colella, Helena Costa Verdera, Louisa Jauze, Monika Gjorgjieva, Francesco Puzzo, Solenne Marmier, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Sabrina Lucchiari, Laetitia van Wittenberghe, Alban Vignaud, Bernard Gjata, Isabelle Richard, Pascal Laforet, Edoardo Malfatti, Gilles Mithieux, Fabienne Rajas, Giacomo Pietro Comi, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here we describe the development of a mouse model of GSDIII, which faithfully recapitulates the main features of the human condition. We used this model to develop and test novel therapies based on adeno-associated virus (AAV) vector-mediated gene transfer...
December 28, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29394260/healthcare-resource-use-and-costs-of-managing-children-and-adults-with-lysosomal-acid-lipase-deficiency-at-a-tertiary-referral-centre-in-the-united-kingdom
#15
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
OBJECTIVE: To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK. METHODS: A retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients' pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated...
2018: PloS One
https://www.readbyqxmd.com/read/29380258/the-influence-of-patient-reported-joint-manifestations-on-quality-of-life-in-fabry-patients
#16
Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A Hughes
Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis.Fabry patients may suffer significant neuropathic pain in the extremities (acroparasthesia) but the degree to which musculoskeletal symptoms contribute to total pain and disability is unknown...
January 30, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29379059/deletion-of-mcp-1-impedes-pathogenesis-of-acid-ceramidase-deficiency
#17
Fabian P S Yu, Shaalee Dworski, Jeffrey A Medin
Farber Disease (FD) is an ultra-rare Lysosomal Storage Disorder caused by deficient acid ceramidase (ACDase) activity. Patients with ACDase deficiency manifest a spectrum of symptoms including formation of nodules, painful joints, and a hoarse voice. Classic FD patients will develop histiocytes in organs and die in childhood. Monocyte chemotactic protein (MCP-1; CCL2) is significantly elevated in both FD patients and a mouse model we previously generated. Here, to further study MCP-1 in FD, we created an ACDase;MCP-1 double mutant mouse...
January 29, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29374495/long-term-substrate-reduction-therapy-with-ezetimibe-alone-or-associated-with-statins-in-three-adult-patients-with-lysosomal-acid-lipase-deficiency
#18
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased...
January 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29371397/transcriptional-and-post-transcriptional-regulation-of-autophagy-in-the-yeast-saccharomyces-cerevisiae
#19
Elizabeth Delorme-Axford, Daniel J Klionsky
Autophagy is a highly conserved catabolic pathway that is vital for development, cell survival and the degradation of dysfunctional organelles and toxic aggregates. Dysregulation of autophagy is associated with cancer, neurodegeneration and lysosomal storage diseases. Accordingly, autophagy is precisely regulated at multiple levels (transcriptional, post-transcriptional, epigenetic, translational and post-translational) to prevent aberrant activity. Various model organisms exist to study autophagy but the baker's yeast Saccharomyces cerevisiae continues to be very advantageous for genetic and biochemical analysis of non-selective and selective autophagy...
January 25, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29369397/metallothioneins-are-neuroprotective-agents-in-lysosomal-storage-disorders
#20
Eleonora Cavalca, Martina Cesani, Jennifer Gifford, Miguel Sena Esteves, Maria Rosa Terreni, Giuseppe Leoncini, Marco Peviani, Alessandra Biffi
OBJECTIVE: Lysosomal Storage Disorders (LSDs) are a broad class of inherited metabolic diseases caused by the defective activity of lysosomal enzymes. Central nervous system (CNS) manifestations are present in roughly 50% of LSD patients and represent an unmet medical need for them. We explored the therapeutic potential of Metallothioneins (MTs), a newly identified family of proteins with reported neuroprotective roles, in the murine models of two LSDs with CNS involvement. METHODS: MT-1 over-expressing transgenic mice (MTtg) were crossed with the murine models of Batten and Krabbe diseases...
January 25, 2018: Annals of Neurology
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