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Lysosomal storage disease

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https://www.readbyqxmd.com/read/29237663/progressive-myoclonic-epilepsy-and-horizontal-gaze-palsy-a-rare-aetiology
#1
Rajveer Singh, Aditya Choudhary, Amith S Kumar, Manoj Kumar Goyal
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#2
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/29233882/dysregulation-of-autophagy-as-a-common-mechanism-in-lysosomal-storage-diseases
#3
REVIEW
Elena Seranova, Kyle J Connolly, Malgorzata Zatyka, Tatiana R Rosenstock, Timothy Barrett, Richard I Tuxworth, Sovan Sarkar
The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus for signalling pathways responsive to a variety of factors, such as growth, nutrient availability, energetic status and cellular stressors. Lysosomes are also the terminal degradative organelles for autophagy through which macromolecules and damaged cellular components and organelles are degraded. Autophagy acts as a cellular homeostatic pathway that is essential for organismal physiology. Decline in autophagy during ageing or in many diseases, including late-onset forms of neurodegeneration is considered a major contributing factor to the pathology...
December 12, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/29233876/molecular-control-of-chaperone-mediated-autophagy
#4
REVIEW
Steve Catarino, Paulo Pereira, Henrique Girão
Chaperone-mediated autophagy (CMA) is a selective form of autophagy in which cytosolic proteins bearing a pentapeptide motif biochemically related to the KFERQ sequence, are recognized by the heat shock protein family A member 8 (HSPA8) chaperone, delivered to the lysomal membrane, and directly translocated across the lysosomal membrane by a protein complex containing lysosomal associated membrane protein 2a (Lamp2a). Since its discovery over two decades ago, the importance of this pathway in cell proteostasis has been made increasingly apparent...
December 12, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/29229934/bis-monoacylglycero-phosphate-lipids-in-the-retinal-pigment-epithelium-implicate-lysosomal-endosomal-dysfunction-in-a-model-of-stargardt-disease-and-human-retinas
#5
David M G Anderson, Zsolt Ablonczy, Yiannis Koutalos, Anne M Hanneken, Jeffrey M Spraggins, M Wade Calcutt, Rosalie K Crouch, Richard M Caprioli, Kevin L Schey
Stargardt disease is a juvenile onset retinal degeneration, associated with elevated levels of lipofuscin and its bis-retinoid components, such as N-retinylidene-N-retinylethanolamine (A2E). However, the pathogenesis of Stargardt is still poorly understood and targeted treatments are not available. Utilizing high spatial and high mass resolution matrix assisted laser desorption ionization (MALDI) imaging mass spectrometry (IMS), we determined alterations of lipid profiles specifically localized to the retinal pigment epithelium (RPE) in Abca4 -/- Stargardt model mice compared to their relevant background strain...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29226242/intracerebroventricular-delivery-of-hematopoietic-progenitors-results-in-rapid-and-robust-engraftment-of-microglia-like-cells
#6
Alessia Capotondo, Rita Milazzo, Jose M Garcia-Manteiga, Eleonora Cavalca, Annita Montepeloso, Brian S Garrison, Marco Peviani, Derrick J Rossi, Alessandra Biffi
Recent evidence indicates that hematopoietic stem and progenitor cells (HSPCs) can serve as vehicles for therapeutic molecular delivery to the brain by contributing to the turnover of resident myeloid cell populations. However, such engraftment needs to be fast and efficient to exert its therapeutic potential for diseases affecting the central nervous system. Moreover, the nature of the cells reconstituted after transplantation and whether they could comprise bona fide microglia remain to be assessed. We demonstrate that transplantation of HSPCs in the cerebral lateral ventricles provides rapid engraftment of morphologically, antigenically, and transcriptionally dependable microglia-like cells...
December 2017: Science Advances
https://www.readbyqxmd.com/read/29215735/vacuolated-pas-positive-lymphocytes-as-an-hallmark-of-pompe-disease-and-other-myopathies-related-to-impaired-autophagy
#7
Angelo Pascarella, Chiara Terracciano, Olimpia Farina, Luca Lombardi, Teresa Esposito, Filomena Napolitano, Giuseppina Franzese, Giovanni Panella, Francesco Tuccillo, Giancarlo la Marca, Sergio Bernardini, Silvia Boffo, Antonio Giordano, Mariarosa Anna Beatrice Melone, Giuseppe Di Iorio, Simone Sampaolo
Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-α-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocytes. Since an effective therapy is available, a rapid, sensitive and specific test is crucial to early identify affected subjects. Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or muscle weakness, 13 genetically confirmed late-onset-Pompe-disease (LOPD) and 13 of their offspring...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29214524/effect-of-storage-conditions-on-stability-of-ophthalmological-compounded-cysteamine-eye-drops
#8
Ahmed Reda, Ann Van Schepdael, Erwin Adams, Prasanta Paul, David Devolder, Mohamed A Elmonem, Koenraad Veys, Ingele Casteels, Lambertus van den Heuvel, Elena Levtchenko
Cystinosis is a hereditary genetic disease that results in the accumulation of cystine crystals in the lysosomes, leading to many clinical manifestations. One of these manifestations is the formation of corneal cystine crystals, which can cause serious ocular complications. The only available drug to treat cystinosis is cysteamine, which breaks cystine and depletes its accumulation in the lysosomes. However, the oral form of cysteamine is not effective in treating corneal manifestations. Thus, ophthalmic solutions of cysteamine are applied...
December 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#9
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29198043/the-diagnosis-of-dementias-a-practical-tool-not-to-miss-rare-causes
#10
Camilla Ferrari, Benedetta Nacmias, Sandro Sorbi
Dementia represents one of the most diffuse disorders of our Era. Alzheimer's disease is the principle cause of dementia worldwide. Metabolic, infectious, autoimmune, inflammatory, and genetic dementias represent a not negligible number of disorders, with increasing numbers in younger subjects. Due to the heterogeneity of patients and disorders, the diagnosis of dementia is challenging. In the present article, we propose a practical diagnostic approach following the two-step investigation procedure. The first step includes basic blood tests and brain neuroimaging, performed on all patients...
December 2, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29197565/molecular-and-biochemical-biomarkers-for-diagnosis-and-therapy-monitorization-of-niemann-pick-type-c-patients
#11
Tatiane Grazieli Hammerschmidt, Graziela de Oliveira Schmitt Ribas, Maria Luiza Saraiva-Pereira, Márcia Polese Bonatto, Rejane Gus Kessler, Fernanda Timm Seabra Souza, Franciele Trapp, Kristiane Michelin-Tirelli, Maira Graeff Burin, Roberto Giugliani, Carmen Regla Vargas
BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in fibroblasts of affected individuals, using an invasive and time expensive test, called Filipin staining...
November 29, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29196158/prevalence-of-cholesteryl-ester-storage-disease-among-hypercholesterolemic-subjects-and-functional-characterization-of-mutations-in-the-lysosomal-acid-lipase-gene
#12
Terje Vinje, Lene Wierød, Trond P Leren, Thea Bismo Strøm
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. One of the clinical features of this disease is hypercholesterolemia. Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease...
November 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29192262/parkinson-disease-lysosome-storage-disorder-risk-genes-linked-to-pd
#13
Charlotte Ridler
No abstract text is available yet for this article.
December 1, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29187643/rescue-of-pompe-disease-in-mice-by-aav-mediated-liver-delivery-of-secretable-acid-%C3%AE-glucosidase
#14
Francesco Puzzo, Pasqualina Colella, Maria G Biferi, Deeksha Bali, Nicole K Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A Kay, Dwight D Koeberl, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29186350/macrophage-enzyme-and-reduced-inflammation-drive-brain-correction-of-mucopolysaccharidosis-iiib-by-stem-cell-gene-therapy
#15
Rebecca J Holley, Stuart M Ellison, Daniel Fil, Claire O'Leary, John McDermott, Nishanthi Senthivel, Alexander W W Langford-Smith, Fiona L Wilkinson, Zelpha D'Souza, Helen Parker, Aiyin Liao, Samuel Rowlston, Hélène F E Gleitz, Shih-Hsin Kan, Patricia I Dickson, Brian W Bigger
Mucopolysaccharidosis IIIB is a paediatric lysosomal storage disease caused by deficiency of the enzyme α-N-acetylglucosaminidase (NAGLU), involved in the degradation of the glycosaminoglycan heparan sulphate. Absence of NAGLU leads to accumulation of partially degraded heparan sulphate within lysosomes and the extracellular matrix, giving rise to severe CNS degeneration with progressive cognitive impairment and behavioural problems. There are no therapies. Haematopoietic stem cell transplant shows great efficacy in the related disease mucopolysaccharidosis I, where donor-derived monocytes can transmigrate into the brain following bone marrow engraftment, secrete the missing enzyme and cross-correct neighbouring cells...
November 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29180785/deleting-the-mouse-hsd17b1-gene-results-in-a-hypomorphic-naglu-allele-and-a-phenotype-mimicking-a-lysosomal-storage-disease
#16
Heli Jokela, Janne Hakkarainen, Laura Kätkänaho, Pirjo Pakarinen, Suvi T Ruohonen, Manuel Tena-Sempere, Fu-Ping Zhang, Matti Poutanen
HSD17B1 is a steroid metabolising enzyme. We have previously generated knockout mice that had the entire coding region of Hsd17b1 replaced with lacZ-neo cassette (Hsd17b1-LacZ/Neo mice). This resulted in a 90% reduction of HSD17B1 activity, associated with severe subfertility in the knockout females. The present study indicates that Hsd17b1-LacZ/Neo male mice have a metabolic phenotype, including reduced adipose mass, increased lean mass and lipid accumulation in the liver. During the characterisation of this metabolic phenotype, it became evident that the expression of the Naglu gene, located closely upstream of Hsd17b1, was severely reduced in all tissues analysed...
November 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29178638/living-with-a-rare-disorder-a-systematic-review-of-the-qualitative-literature
#17
REVIEW
Charlotte von der Lippe, Plata S Diesen, Kristin B Feragen
BACKGROUND: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. METHODS: We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29171474/-progressive-pulmonary-hypertension-in-a-patient-with-type-1-gaucher-disease
#18
R V Ponomarev, S V Model, O M Averbukh, A M Gavrilov, G M Galstyan, E A Lukina
Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease - the development of pneumosclerosis due to macrophage dysfunction...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29170090/mucolipidosis-type-iii-gamma-three-novel-mutation-and-genotype-phenotype-study-in-eleven-patients
#19
Beyhan Tüysüz, Özgür Kasapçopur, Dilek Uludağ Alkaya, Sezgin Şahin, Betül Sözeri, Gözde Yeşil
Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode the γ subunit of the N-acetylglucosamine-1-phosphotransferase enzyme, are the underlying cause of MLIII gamma. The aim of this study is to evaluate the longitudinal findings and genotype of eleven patients from eight families with MLIII gamma and to establish a genotype-phenotype correlation...
November 20, 2017: Gene
https://www.readbyqxmd.com/read/29168031/neural-cells-generated-from-human-induced-pluripotent-stem-cells-as-a-model-of-cns-involvement-in-mucopolysaccharidosis-type-ii
#20
Jitka Rybová, Jana Ledvinová, Jakub Sikora, Ladislav Kuchař, Robert Dobrovolný
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplenomegaly, cardiac valvular disease, and progressive neurological impairment. At the cellular level, IDS deficiency leads to lysosomal storage of glycosaminoglycans (GAGs), dominated by accumulation of dermatan and heparan sulfates. Human induced pluripotent stem cells (iPSC) represent an alternative system that complements the available MPSII murine model...
November 22, 2017: Journal of Inherited Metabolic Disease
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