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Gauchers disease

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https://www.readbyqxmd.com/read/28822219/regulation-of-protein-function-by-s-nitrosation-and-s-glutathionylation-processes-and-targets-in-cardiovascular-pathophysiology
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28800551/using-transgenic-plants-and-modified-plant-viruses-for-the-development-of-treatments-for-human-diseases
#4
REVIEW
Hwei-San Loh, Brian J Green, Vidadi Yusibov
Production of proteins in plants for human health applications has become an attractive strategy attributed by their potentials for low-cost production, increased safety due to the lack of human or animal pathogens, scalability and ability to produce complex proteins. A major milestone for plant-based protein production for use in human health was achieved when Protalix BioTherapeutics produced taliglucerase alfa (Elelyso(®)) in suspension cultures of a transgenic carrot cell line for the treatment of patients with Gaucher's disease, was approved by the USA Food and Drug Administration in 2012...
August 8, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/28763689/investigation-of-novel-pharmacological-chaperones-for-gaucher-disease
#5
Buge Yilmazer, Z Begum Yagci, Emre Bakar, Burcu Ozden, Kutlu Ulgen, Elif Ozkirimli
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and ceramide. Mutations in GBA lead to the accumulation of glycosylceramide in the lysosome causing an enlargement of the spleen and the liver and skeletal deformations. This disease is called Gaucher Disease. Enzyme replacement therapies and substrate reduction methods that are used to treat Gaucher Disease fail when the disease is neuropathic because they fail to pass the blood brain barrier...
July 20, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28762527/outcomes-after-18-months-of-eliglustat-therapy-in-treatment-na%C3%A3-ve-adults-with-gaucher-disease-type-1-the-phase-3-engage-trial
#6
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P Shankar, Hagit Baris, Marwan Ghosn, Atul Mehta, Seymour Packman, Gregory Pastores, Milan Petakov, Sarit Assouline, Manisha Balwani, Sumita Danda, Evgueniy Hadjiev, Andres Ortega, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt
Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients). In the primary analysis of the Phase 3 ENGAGE trial (NCT00891202), eliglustat treatment for 9 months resulted in significant reductions in spleen and liver volumes and increases in hemoglobin concentration and platelet count compared with placebo. We report 18-month outcomes of patients who entered the trial extension period, in which all patients received eliglustat...
August 1, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28749998/lc-ms-ms-multiplex-analysis-of-lysosphingolipids-in-plasma-and-amniotic-fluid-a-novel-tool-for-the-screening-of-sphingolipidoses-and-niemann-pick-type-c-disease
#7
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i...
2017: PloS One
https://www.readbyqxmd.com/read/28743484/oxidative-stress-enhances-and-modulates-protein-s-nitrosation-in-smooth-muscle-cells-exposed-to-s-nitrosoglutathione
#8
E Belcastro, W Wu, I Fries-Raeth, A Corti, A Pompella, P Leroy, I Lartaud, C Gaucher
Among S-nitrosothiols showing reversible binding between NO and -SH group, S-nitrosoglutathione (GSNO) represents potential therapeutics to treat cardiovascular diseases (CVD) associated with reduced nitric oxide (NO) availability. It also induces S-nitrosation of proteins, responsible for the main endogenous storage form of NO. Although oxidative stress parallels CVD development, little is known on the ability of GSNO to restore NO supply and storage in vascular tissues under oxidative stress conditions. Aortic rat smooth muscle cells (SMC) were stressed in vitro with a free radical generator (2,2'-azobis(2-amidinopropane) dihydrochloride, AAPH)...
July 23, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/28736718/type-3-gaucher-disease-diagnostic-in-adulthood
#9
Charles Detollenaere, Monia Benghergbia, Anaïs Brassier, Thierry Billette de Villemeur, Daniel Amsallem, Marc Berger, Jérôme Stirnemann, Nadia Belmatoug, Christian Rose
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736246/in-vitro-osteoclastogenesis-from-gaucher-patients-cells-correlates-with-bone-mineral-density-but-not-with-chitotriosidase
#10
C Bondar, J Mucci, A Crivaro, M Ormazabal, R Ceci, B Oliveri, D González, P Rozenfeld
Gaucher disease (GD) is caused by mutations on the gene encoding for the lysosomal enzyme glucocerebrosidase. Type I GD (GD1) patients present anemia, hepatosplenomegaly and bone alterations. In spite of treatment, bone alterations in GD patients persist, including poor bone mineral density (BMD). Mechanisms leading to bone damage are not completely understood, but previous reports suggest that osteoclasts are involved. Chitotriosidase (CHIT) is the most reliable biomarker used in the follow up of patients, although its correlation with bone status is unknown...
July 20, 2017: Bone
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#11
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28727984/gba-analysis-in-next-generation-era-pitfalls-challenges-and-possible-solutions
#12
Stefania Zampieri, Silvia Cattarossi, Bruno Bembi, Andrea Dardis
Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease. In past years, next-generation sequencing (NGS) technology has been applied for the molecular analysis of the GBA gene, both as a single gene or as part of gene panels. However, the presence of complex gene-pseudogene rearrangements, resulting from the presence of a highly homologous pseudogene (GBAP1) located downstream of the GBA gene, makes NGS analysis of GBA challenging...
July 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#13
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28714776/tissue-localization-of-glycosphingolipid-accumulation-in-a-gaucher-disease-mouse-brain-by-lc-esi-ms-ms-and-high-resolution-maldi-imaging-mass-spectrometry
#14
E Ellen Jones, Wujuan Zhang, Xueheng Zhao, Cristine Quiason, Stephanie Dale, Sheerin Shahidi-Latham, Gregory A Grabowski, Kenneth D R Setchell, Richard R Drake, Ying Sun
To better understand regional brain glycosphingolipid (GSL) accumulation in Gaucher disease (GD) and its relationship to neuropathology, a feasibility study using mass spectrometry and immunohistochemistry was conducted using brains derived from a GD mouse model (4L/PS/NA) homozygous for a mutant GCase (V394L [4L]) and expressing a prosaposin hypomorphic (PS-NA) transgene. Whole brains from GD and control animals were collected using one hemisphere for MALDI FTICR IMS analysis and the other for quantitation by LC-ESI-MS/MS...
July 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28702360/treatment-of-profound-thrombocytopenia-in-a-patient-with-gaucher-disease-type-1-is-there-a-role-for-substrate-reduction-therapy
#15
Christine I Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S Kishnani
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment. This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20 × 10(9)/L, normal range: 150-450 × 10(9)/L) with several episodes of bleeding with minimal trauma and bruises...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28699604/torsion-of-a-wandering-spleen-in-an-adolescent-with-gaucher-disease
#16
Şükrü Güngör, Mehmet Öztürk, Fatma İlknur Varol, Ahmet Sığırcı, Mukadder Ayşe Selimoğlu
A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a wandering spleen, literature shows only one report of a wandering spleen in a child with Gaucher disease. In this case presentation, a 13-year-oldadolescent with Gaucher disease on enzyme replacement treatment was presented, who was detected having an abdominal mass on a routine visit and diagnosed with partial torsion of a wandering spleen associated with left lobe hypoplasia of the liver...
July 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28693786/skeletal-involvement-in-type-1-gaucher-disease-not-just-bone-mineral-density
#17
M Baldini, G Casirati, F M Ulivieri, E Cassinerio, K Khouri Chalouhi, E Poggiali, L Borin, V Burghignoli, B M Cesana, M D Cappellini
Gaucher disease is characterized by multi-organ infiltration of phospholipid-laden macrophages. Bone involvement is characterized by typical deformities, osteopenia/osteoporosis, pathological fractures, and bone marrow infiltration (avascular osteonecrosis, infarction). Estimation of skeletal disease includes bone quality that contributes substantially to bone strength. We studied 23 type 1 Gaucher patients (median age 22years, range 3-73) on Enzyme Replacement Therapy from 2months to 26years (median 7years); 4 patients had pathological fractures, 10 bone infarctions, 6 avascular osteonecrosis...
June 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28692917/tuning-of-%C3%AE-glucosidase-and-%C3%AE-galactosidase-inhibition-by-generation-and-in-situ-screening-of-a-library-of-pyrrolidine-triazole-hybrid-molecules
#18
Macarena Martínez-Bailén, Ana T Carmona, Elena Moreno-Clavijo, Inmaculada Robina, Daisuke Ide, Atsushi Kato, Antonio J Moreno-Vargas
The preliminary screening of two libraries of epimeric (pyrrolidin-2-yl)triazoles (14a-s and 22a-s), generated via click chemistry, allowed the rapid identification of four α-galactosidase (coffee beans) inhibitors (22b,k,p,r) and two β-glucosidase (almond) inhibitors (14b,f) in the low μM range. The additional biological analysis of 14b,f towards β-glucocerebrosidase (human lysosomal β-glucosidase), as target enzyme for Gaucher disease, showed a good correlation with the inhibition results obtained for the plant (almond) enzyme...
June 27, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28690585/saccadic-impairments-in-patients-with-the-norrbottnian-form-of-gaucher-s-disease-type-3
#19
Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka, Per Svenningsson
BACKGROUND: Chronic neuronopathic Gaucher's disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3. OBJECTIVE: To characterize the saccades in patients with Norrbottnian GD3 with respect to their neurological and cognitive status using a computer-based eye-tracking technique. METHODS: Horizontal and vertical reflexive saccades as well as antisaccades of nine GD3 patients [4M/5F; 41...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#20
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...
August 2017: Immunology Letters
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