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https://www.readbyqxmd.com/read/28935503/should-eliglustat-be-first-line-therapy-for-patients-with-type-1-gaucher-disease-definitions-of-safety-and-efficacy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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 15, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28918238/recent-advances-and-future-challenges-in-gaucher-disease
#7
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
#8
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
#9
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
#10
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/28892649/expression-of-phosphate-transporters-during-dental-mineralization
#11
L Merametdjian, S Beck-Cormier, N Bon, G Couasnay, S Sourice, J Guicheux, C Gaucher, L Beck
The importance of phosphate (Pi) as an essential component of hydroxyapatite crystals suggests a key role for membrane proteins controlling Pi uptake during mineralization in the tooth. To clarify the involvement of the currently known Pi transporters (Slc17a1, Slc34a1, Slc34a2, Slc34a3, Slc20a1, Slc20a2, and Xpr1) during tooth development and mineralization, we determined their spatiotemporal expression in murine tooth germs from embryonic day 14.5 to postnatal day 15 and in human dental samples from Nolla stages 6 to 9...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28890071/serum-lipid-alterations-in-gba-associated-parkinson-s-disease
#12
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/28862976/sarcoidosis-and-wound-healing-after-cellulitis-of-the-lower-limb-is-methotrexate-responsible-for-skin-graft-failure
#13
Sonia Gaucher, Claire Nicolas, Olivier Piveteau, Henri-Jean Philippe, Philippe Blanche
The authors report the case of a 53-year-old man with diffuse cutaneous and mediastinal pulmonary sarcoidosis and well-controlled steroid-induced diabetes. He was hospitalized for cellulitis of his left leg. His standard treatment for sarcoidosis consisted of prednisone and methotrexate. Prednisone was stopped at his admission. He received antibiotics for 4 weeks to treat the cellulitis. In parallel, the leg wound was treated with daily silver sulfadiazine applications until necrosis removal, then by skin autografting...
August 2017: Wounds: a Compendium of Clinical Research and Practice
https://www.readbyqxmd.com/read/28862206/lysosomal-storage-disorders-morphologic-appraisal-in-indian-population
#14
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
#15
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
https://www.readbyqxmd.com/read/28851512/reductions-in-glucosylsphingosine-lyso-gb1-in-treatment-na%C3%A3-ve-and-previously-treated-patients-receiving-velaglucerase-alfa-for-type-1-gaucher-disease-data-from-phase-3-clinical-trials
#16
Deborah Elstein, Björn Mellgard, Quinn Dinh, Lan Lan, Yongchang Qiu, Claudia Cozma, Sabrina Eichler, Tobias Böttcher, Ari Zimran
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine, lyso-GL1), a downstream metabolic product of glucosylceramide, has been identified as a promising biomarker for the diagnosis and monitoring of patients with GD. This retrospective, exploratory analysis of data from phase 3 clinical trials of velaglucerase alfa in patients with type 1 GD evaluated the potential of lyso-Gb1 as a specific and sensitive biomarker for GD...
August 24, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28835999/glucocerebrosidase-expression-patterns-in-the-non-human-primate-brain
#17
Iria G Dopeso-Reyes, Diego Sucunza, Alberto J Rico, Diego Pignataro, David Marín-Ramos, Elvira Roda, Ana I Rodríguez-Pérez, José L Labandeira-García, José L Lanciego
Glucocerebrosidase (GCase) is a lysosomal enzyme encoded by the GBA1 gene. Mutations in GBA1 gene lead to Gaucher's disease, the most prevalent lysosomal storage disorder. GBA1 mutations reduce GCase activity, therefore promoting the aggregation of alpha-synuclein, a common neuropathological finding underlying Parkinson's disease (PD) and dementia with Lewy bodies. However, it is also worth noting that a direct link between GBA1 mutations and alpha-synuclein aggregation indicating cause and effect is still lacking, with limited experimental evidence to date...
August 23, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28822219/regulation-of-protein-function-by-s-nitrosation-and-s-glutathionylation-processes-and-targets-in-cardiovascular-pathophysiology
#18
Eugenia Belcastro, Caroline Gaucher, Alessandro Corti, Pierre Leroy, Isabelle Lartaud, Alfonso Pompella
Decades of chemical, biochemical and pathophysiological research have established the relevance of post-translational protein modifications induced by processes related to oxidative stress, with critical reflections on cellular signal transduction pathways. A great deal of the socalled 'redox regulation' of cell function is in fact mediated through reactions promoted by reactive oxygen and nitrogen species on more or less specific aminoacid residues in proteins, at various levels within the cell machinery. Modifications involving cysteine residues have received most attention, due to the critical roles they play in determining the structure/function correlates in proteins...
August 28, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/28812093/a-convenient-approach-to-facilitate-monitoring-gaucher-disease-progression-and-therapeutic-response
#19
Wujuan Zhang, Melissa Oehrle, Carlos E Prada, Ida Vanessa D Schwartz, Somchai Chutipongtanate, Duangrurdee Wattanasirichaigoon, Venette Inskeep, Mei Dai, Dao Pan, Ying Sun, Kenneth D R Setchell
Gaucher disease (GD) is caused by mutations on the GBA1 gene leading to deficiency in acid β-glucosidase (GCase) and subsequent accumulation of its substrates, glucosylceramide (GlcC) and glucosylsphingosine (GlcS). GlcS in plasma has been proposed as a highly sensitive and specific biomarker for the diagnosis of GD and for monitoring disease progression and response to therapy. Here we report a novel robust and accurate hydrophilic interaction liquid chromatography tandem mass spectrometric method (HILIC-MS/MS) for the direct measurement of glucosylsphingosine (GlcS) in dried plasma spots (DPS)...
August 16, 2017: Analyst
https://www.readbyqxmd.com/read/28803392/attitudes-of-individuals-with-gaucher-disease-toward-substrate-reduction-therapies
#20
Victoria F Wagner, Hope Northrup, S Shahrukh Hashmi, Joanne M Nguyen, Mary Kay Koenig, Jessica M Davis
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More recently, oral substrate reduction therapies (SRTs) were approved for treatment of GD. Although both therapies alleviate disease symptoms, attitudes toward SRTs and patient perceptions of health while using SRT have not been well established. Electronic surveys were administered to adults with GD and asked about treatment history, attitudes toward SRTs, and perception of health while using SRTs as compared to ERTs, if applicable to the participant...
August 13, 2017: Journal of Genetic Counseling
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