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Gauchers disease

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https://www.readbyqxmd.com/read/29033258/persistent-tryptase-elevation-in-a-patient-with-gaucher-disease
#1
Edith Schussler, Amy Yang, Jonathan J Lyons, Joshua D Milner, Julie Wang
No abstract text is available yet for this article.
October 12, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29023809/a-nucleotide-substitution-in-exon-8-of-the-glucosylceramidase-beta-gene-is-associated-with-gaucher-disease-in-sheep
#2
Huitong Zhou, Yunsheng Zhang, Robert Suter, Hua Gong, Qian Fang, Ping Zhou, Jon G H Hickford
No abstract text is available yet for this article.
October 11, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28981147/reduced-cerebral-vascularisation-in-experimental-neuronopathic-gaucher-disease
#3
Nicholas J C Smith, Maria Fuller, Jennifer T Saville, Timothy M Cox
The glycosphingolipidosis of Gaucher disease, in which a range of neurological manifestations occur, results from a deficiency of acid β-glucocerebrosidase, with subsequent accumulation of β-glucocerebroside, its upstream substrates and the non-acylated congener, β-glucosylsphingosine. However, the mechanisms by which end-organ dysfunction arise are poorly understood. Here we report strikingly diminished cerebral microvascular density in a murine model of disease and provide a detailed analysis of the accompanying cerebral glycosphingolipidome in these animals, with marked elevations of β-glucosylsphingosine...
October 5, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28963610/patients-opinions-on-genetic-counseling-on-the-increased-risk-of-parkinson-disease-among-gaucher-disease-carriers
#4
Maureen Mulhern, Louise Bier, Roy N Alcalay, Manisha Balwani
Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening...
September 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28947706/gba-mutations-in-gaucher-type-i-venezuelan-patients-ethnic-origins-and-frequencies
#5
Gilberto Gómez, Sergio Arias, Leonor Cárdenas, Dalal Zoghbi, Irene Paradisi
Gaucher disease (GD), the most frequent lysosomal storage disease, is caused by heterogeneous mutations in the locus coding for glucocerebrosidase (GBA). It is an autosomal recessive disorder with different phenotypes of which the most frequent is the nonneuronopathic or type 1, prevalent worldwide. To date, more than 430 mutations have been described, but their frequency distribution varies in different populations with four, N370S, L444P, IVS2 + 1G > A and 84insG, being the most frequent ones. In Venezuela, 20 unrelated index cases with GD type I were assessed for GBA mutation detection and for their in-phase haplotype identification, to gather genetic epidemiological data on the disease in the country and of its eventual ethnic origin...
September 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28944282/progranulin-acts-as-a-shared-chaperone-and-regulates-multiple-lysosomal-enzymes
#6
Jinlong Jian, Aubryanna Hettinghouse, Chuan-Ju Liu
Multifunctional factor progranulin (PGRN) plays an important role in lysosomes, and its mutations and insufficiency are associated with lysosomal storage diseases, including neuronal ceroid lipofuscinosis and Gaucher disease (GD). The first breakthrough in understanding the molecular mechanisms of PGRN as regulator of lysosomal storage diseases came unexpectedly while investigating the role of PGRN in inflammation. Challenged PGRN null mice displayed typical features of GD. In addition, GRN gene variants were identified in GD patients and the serum levels of PGRN were significantly lower in GD patients...
September 2017: Genes & Diseases
https://www.readbyqxmd.com/read/28940353/repeated-dose-oral-n-acetylcysteine-in-parkinson-s-disease-pharmacokinetics-and-effect-on-brain-glutathione-and-oxidative-stress
#7
Lisa D Coles, Paul J Tuite, Gülin Öz, Usha R Mishra, Reena V Kartha, Kathleen M Sullivan, James C Cloyd, Melissa Terpstra
Parkinson's disease (PD) is associated with oxidative stress and decreased nigral glutathione (GSH), suggesting that therapies that boost GSH may have a disease-modifying effect. Intravenous administration of a high dose of N-acetylcysteine (NAC), a well-known antioxidant and GSH precursor, increases blood and brain GSH in individuals with PD and with Gaucher disease and in healthy controls. To characterize the pharmacokinetics of repeated high oral doses of NAC and their effect on brain and blood oxidative stress measures, we conducted a 4-week open-label prospective study of oral NAC in individuals with PD (n = 5) and in healthy controls (n = 3)...
September 22, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28935503/should-eliglustat-be-first-line-therapy-for-patients-with-type-1-gaucher-disease-definitions-of-safety-and-efficacy
#8
Ari Zimran, Jack Goldblatt, Jeff Szer
No abstract text is available yet for this article.
September 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28933588/death-by-over-eating-the-gaucher-disease-associated-gene-gba1-identified-in-a-screen-for-mediators-of-autophagic-cell-death-is-necessary-for-developmental-cell-death-in-drosophila-midgut
#9
Santosh K Dasari, Eyal Schejter, Shani Bialik, Aya Shkedy, Vered Levin-Salomon, Smadar Levin-Zaidman, Adi Kimchi
Autophagy is critical for homeostasis and cell survival during stress, but can also lead to cell death, a little understood process that has been shown to contribute to developmental cell death in lower model organisms, and to human cancer cell death. We recently reported (1) on our thorough molecular and morphologic characterization of an autophagic cell death system involving resveratrol treatment of lung carcinoma cells. To gain mechanistic insight into this death program, we performed a signalome-wide RNAi screen for genes whose functions are necessary for resveratrol-induced death...
September 21, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28933411/mitochondrial-dysfunction-in-lysosomal-storage-disorders
#10
REVIEW
Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death...
October 11, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933363/the-spectrum-of-neurological-manifestations-associated-with-gaucher-disease
#11
REVIEW
Tamanna Roshan Lal, Ellen Sidransky
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations...
March 2, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933361/lysosomal-storage-disorders-and-malignancy
#12
REVIEW
Gregory M Pastores, Derralynn A Hughes
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. It has been shown that two major sphingolipids that accumulate in GD, namely, β-glucosylceramide 22:0 (βGL1-22) and glucosylsphingosine (LGL1), can be recognized by a distinct subset of CD1d-restricted human and murine type II natural killer T (NKT) cells...
February 27, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28923368/insights-into-the-structural-biology-of-gaucher-disease
#13
REVIEW
Laura Smith, Stephen Mullin, Anthony H V Schapira
Gaucher disease, the most common lysosomal storage disorder, is caused by mutations in the gene encoding the acid-β-glucosidase lysosomal hydrolase enzyme that cleaves glucocerebroside into glucose and ceramide. Reduced enzyme activity and impaired structural stability arise due to >300 known disease-causing mutations. Several of these mutations have also been associated with an increased risk of Parkinson disease (PD). Since the discovery of the acid-β-glucosidase X-ray structure, there have been major advances in our understanding of the structural properties of the protein...
September 18, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28918238/recent-advances-and-future-challenges-in-gaucher-disease
#14
EDITORIAL
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
September 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28918237/preface-to-the-special-issue-on-gaucher-disease-2017
#15
EDITORIAL
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
September 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#16
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28905365/iron-storage-in-liver-bone-marrow-and-splenic-gaucheroma-reflects-residual-disease-in-type-1-gaucher-disease-patients-on-treatment
#17
Martine Regenboog, Anneloes E Bohte, Erik M Akkerman, Jaap Stoker, Carla E M Hollak
Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz)...
September 14, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28890071/serum-lipid-alterations-in-gba-associated-parkinson-s-disease
#18
Leonor Correia Guedes, Robin Barry Chan, Marcos António Gomes, Vasco A Conceição, Raquel Bouça Machado, Tiago Soares, Yimeng Xu, Paulo Gaspar, Joao André Carriço, Roy N Alcalay, Joaquim J Ferreira, Tiago Fleming Outeiro, Gabriel Miltenberger-Miltenyi
INTRODUCTION: Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations. METHODS: We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2...
September 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28862206/lysosomal-storage-disorders-morphologic-appraisal-in-indian-population
#19
Dinesh Pradhan, Neelam Varma, Ashmita Gami, Kanwaljeet Singh Hura, Sambit K Mohanty
BACKGROUND: Lysosomal storage disorders (LSDs) comprise a group of at least 50 distinct genetic diseases, each one resulting from the deficiency of a particular lysosomal enzyme involved in metabolism. We attempt to study and further subclassify pediatric LSDs into Gaucher's and non-Gaucher's category based on the morphologic variables seen in the bone marrow aspiration smears and trephine biopsy sections. MATERIALS AND METHODS: Pediatric (<12 years age) cases of LSDs diagnosed by bone marrow aspiration and trephine biopsy specimens, in the last 12 years period, were retrieved...
July 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28859662/chronic-pain-in-gaucher-disease-skeletal-or-neuropathic-origin
#20
Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra, Bruno Bembi
BACKGOUND: Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain secondary to skeletal involvement but it is described even in the absence of bone disease without a clear explanation. In the last years an increasing number of reports have described the presence of neurological manifestation in Gaucher type 1 patients, including subclinical large fibre neuropathy...
August 31, 2017: Orphanet Journal of Rare Diseases
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