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Journal articles on the topic 'Beta-glucocerebrosidase'

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Published: 4 June 2021

Last updated: 27 July 2025

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1

Vanderjagt, D. J., D. E. Fry, and R. H. Glew. "Human glucocerebrosidase catalyses transglucosylation between glucocerebroside and retinol." Biochemical Journal 300, no. 2 (1994): 309–15. http://dx.doi.org/10.1042/bj3000309.

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The basal activity of human placental glucocerebrosidase is elevated 16-fold by n-pentanol when assayed using p-nitrophenyl beta-D-glucopyranoside (pNPGlc) as the beta-glucosidase substrate. This enhancement of activity is the result of the formation of a transglucosylation product, n-pentyl beta-D-glucoside, in rate-determining competition with the hydrolytic reaction. The transglucosylation product accounts for approximately 80% of the reaction product generated in the presence of n-pentanol (0.18 M) when either glucocerebroside or pNPGlc was used as the substrate. This stimulatory effect ca

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2

Gopalan, V., L. B. Daniels, R. H. Glew та M. Claeyssens. "Kinetic analysis of the interaction of alkyl glycosides with two human β-glucosidases". Biochemical Journal 262, № 2 (1989): 541–48. http://dx.doi.org/10.1042/bj2620541.

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This paper addresses the similarities and differences in the topology of the catalytic centres of human liver cytosolic beta-glucosidase and placental lysosomal glucocerebrosidase, and utilizes well-documented reversible active-site-directed inhibitors. This comparative kinetic study was performed mainly to decipher the chemical and structural nature of the active site of the cytosolic beta-glucosidase, whose physiological function is unknown. Specifically, analysis of the effects of a family of alkyl beta-glucosides consistently displayed 100-250-fold lower inhibition constants with the cytos

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3

Jin, K., Y. Higaki, Y. Takagi, et al. "Analysis of beta-glucocerebrosidase and ceramidase activities in atopic and aged dry skin." Acta Dermato-Venereologica 74, no. 5 (1994): 337–40. http://dx.doi.org/10.2340/0001555574341343.

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To elucidate the mechanisms that are involved in the decrease of ceramide levels in atopic dry skin and in aged skin, we examined both the activities of beta-glucocerebrosidase, which is a major enzyme in ceramide production, and of ceramidase, which is an essential enzyme in ceramide degradation, in the stratum corneum of atopic dry skin and aged skin. The specimens of the stratum corneum of forearm skin were obtained by tape-stripping from 61 healthy volunteers and 23 patients with atopic uninvolved skin. The beta-glucocerebrosidase activity in the stratum corneum extracts was estimated usin

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4

Prence, E. M., K. O. Garrett, and R. H. Glew. "A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites." Biochemical Journal 237, no. 3 (1986): 655–62. http://dx.doi.org/10.1042/bj2370655.

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Extraction of control human spleen glucocerebrosidase with sodium cholate and butan-l-ol reversibly inactivates the enzyme in terms of its ability to hydrolyse the water-soluble substrate 4-methylumbelliferyl beta-D-glucopyranoside (MUGlc). The acidic brain lipid galactocerebroside 3-sulphate (sulphatide) reconstitutes beta-glucosidase activity in a strongly concentration-dependent manner. In this study we show that sulphatide exhibits three critical micellar concentrations (CMCs): CMC1, 3.72 microM; CMC2, 22.6 microM; CMC3, 60.7 microM. We designate the aggregates formed at these CMCs as prim

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5

Holleran, W. M., Y. Takagi, G. K. Menon, et al. "Permeability barrier requirements regulate epidermal beta-glucocerebrosidase." Journal of Lipid Research 35, no. 5 (1994): 905–12. http://dx.doi.org/10.1016/s0022-2275(20)39184-7.

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6

Glew, R. H., V. Gopalan, C. A. Hubbell та ін. "2,3-di-O-tetradecyl-1-O-(β-d-glucopyranosyl)-sn-glycerol is a substrate for human glucocerebrosidase". Biochemical Journal 274, № 2 (1991): 557–63. http://dx.doi.org/10.1042/bj2740557.

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Glucocerebrosidase, the lysosomal enzyme that is deficient in patients with Gaucher's disease, hydrolyses non-physiological aryl beta-D-glucosides and glucocerebroside, its substrate in vivo. We document that 2,3,-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn-glycerol (2,3,-di-14:0-beta-Glc-DAG) inhibits human placental glucocerebrosidase activity in vitro (Ki 0.18 mM), and the nature of inhibition is typical of a mixed-type pattern. Furthermore, 2,3-di-14:0-beta-Glc-DAG was shown to be an excellent substrate for the lysosomal beta-glucosidase (Km 0.15 mM; Vmax. 19.8 units/mg) when compared w

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7

Mahjouba Baiya, Hicham Yahyaoui, Imane El Khannouri, Ibtissam Mhirig, Mustapha Ait Ameur, and Mohamed Chakour. "Place of cytology in the diagnosis of Gaucher disease: About a case." GSC Advanced Research and Reviews 11, no. 1 (2022): 144–47. http://dx.doi.org/10.30574/gscarr.2022.11.1.0105.

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Gaucher disease is an autosomal recessive genetic disease caused by a deficiency in a lysosomal enzyme, beta glucocerebrosidase. This disease is characterized by deposits of glucosylceramide in liver, spleen and bone marrow cells. The presentation of MG is very heterogeneous, ranging from the asymptomatic form to the lethal form. Neurological forms (types 2 and 3) are present in only 5% of patients with MG and are less frequent than non-neurological forms (type 1). The formal diagnosis is established by measuring the activity of beta glucocerebrosidase in circulating leukocytes. The accumulati

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8

Mahjouba, Baiya, Yahyaoui Hicham, El Khannouri Imane, Mhirig Ibtissam, Ait Ameur Mustapha, and Chakour Mohamed. "Place of cytology in the diagnosis of Gaucher disease: About a case." GSC Advanced Research and Reviews 11, no. 1 (2022): 144–47. https://doi.org/10.5281/zenodo.6631169.

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Gaucher disease is an autosomal recessive genetic disease caused by a deficiency in a lysosomal enzyme, beta glucocerebrosidase. This disease is characterized by deposits of glucosylceramide in liver, spleen and bone marrow cells. The presentation of MG is very heterogeneous, ranging from the asymptomatic form to the lethal form. Neurological forms (types 2 and 3) are present in only 5% of patients with MG and are less frequent than non-neurological forms (type 1). The formal diagnosis is established by measuring the activity of beta glucocerebrosidase in circulating leukocytes. The accumulati

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9

Colbaugh, P. A., M. Stookey, and R. K. Draper. "Impaired lysosomes in a temperature-sensitive mutant of Chinese hamster ovary cells." Journal of Cell Biology 108, no. 6 (1989): 2211–19. http://dx.doi.org/10.1083/jcb.108.6.2211.

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We describe here the properties of a mutant of Chinese hamster ovary cells that expresses a conditional-lethal mutation affecting dense lysosomes. This mutant, termed V.24.1, is a member of the End4 complementation group of temperature-sensitive mutants selected for resistance to protein toxins (Colbaugh, P. A., C.-Y. Kao, S.-P. Shia, M. Stookey, and R. K. Draper. 1988. Somatic Cell Mol. Genet. 14:499-507). Vesicles present in postnuclear supernatants prepared from V.24.1 cells harvested at the restrictive temperature had a 50% reduction in acidification activity, assessed by the ATP-stimulate

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10

Kleinotienė, Gražina, Anna Tylki-Szymanska, and Barbara Czartoryska. "Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment." Medicina 47, no. 7 (2011): 405. http://dx.doi.org/10.3390/medicina47070058.

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Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher’s disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinically, two forms of Gaucher’s disease are defined: nonneuronopathic form, so-called type 1, characterized by hepatosplenomegaly, thrombocytopenia, anemia, and osteopenia, and neuronopathic form, known as types 2 and 3, which are also characterized by hepatosplenomegaly, hematological and bone changes; however, involvement of the

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11

Das, Arunima, Ayesha Khatun, Debananda Sarkar, and Manabendra Sarkar. "Anaesthetic Management of Gaucher's Disease in Obstetric Patient." International Journal of Toxicological and Pharmacological Research 12, no. 10 (2022): 130–32. https://doi.org/10.5281/zenodo.11437043.

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As we know Gaucher is the most common form of lysosomal storage disorder due to deficiency of the beta glucocerebrosidase enzyme. This condition may be a challenge for both anaesthesiologist and obstetrician as there is abnormal coagulation profile and multiorgan involvement in obstetric condition. Our aim was to report divergent management of “Gaucher disease” depending on patient’s characteristics.

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12

Rytel, Krystyna N., Yu Chen, Jiang Yin, Adriano Aguzzi, and Ellen Sidransky. "A genome-wide CRISPR activation screen to identify beta-glucocerebrosidase modifiers." Molecular Genetics and Metabolism 144, no. 2 (2025): 108922. https://doi.org/10.1016/j.ymgme.2024.108922.

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13

Szymańska-Rożek, Paulina, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska, and Agnieszka Ługowska. "A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach." Biomolecules 13, no. 3 (2023): 436. http://dx.doi.org/10.3390/biom13030436.

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Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphingolipid-rich cell membranes. In Gaucher disease, due to a deficit in beta-glucocerebrosidase activity, the phagocytozed substrate glucocerebroside cannot undergo further catabolism. In such a situation, macrophages secrete chitotriosidase in proportion to the degree of overload. Gaucher disease (GD) is a recessively inherited disorder resulting in

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14

Güler, Selen, Yeliz Çağan Appak, Şenay Onbaşı Karabağ, et al. "Gaucher Disease Diagnosed During Adolescence." Pediatric Academic Case Reports 2, no. 1 (2023): 29–32. http://dx.doi.org/10.61107/pacr.2023.042.

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Gaucher's disease (GD) is an autosomal recessive lysosomal lipid storage disorder caused due to insufficient activity of the enzyme beta-glucocerebrosidase. Type 1 GD may present at any age but manifests in childhood in more than half of patients. In this case report, an adolescent who applied to our gastroenterology outpatient clinic with dyspeptic complaints and was diagnosed with type 1 GD is presented to draw attention to rare metabolic diseases. A 14-year-old girl complaining of abdominal and bone pain was admitted to the hospital. Erlenmeyer flask deformity was detected on the direct kne

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15

Praneeth R and Kesavakumar Venkatraj. "Anaesthetic implications for splenectomy in a child with Gaucher’s disease." Indian Journal of Clinical Anaesthesia 8, no. 4 (2021): 608–10. http://dx.doi.org/10.18231/j.ijca.2021.129.

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Gaucher’s disease, a lysosomal storage disorder, is caused by an inherited deficiency of beta glucocerebrosidase enzyme leading to the accumulation of glucocerebroside in the reticuloendothelial system. Patients with this disease often manifest coagulation abnormalities and multi-organ complications. These factors present a challenge to the anaesthesiologist, in deciding the type as well as the conduct of anaesthesia. We aim to report the anaesthetic management in a 3-years old child with Gaucher’s disease posted for splenectomy.

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16

AHMED MOHAMMED, LANA. "CLINICAL & GENETIC PATTERNS OF GAUCHER DISEASE IN KURDISTAN REGION." Duhok Medical Journal 18, no. 2 (2024): 34–44. https://doi.org/10.31386/dmj.2024.18.2.4.

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ABSTRACT Background: Gaucher disease is a rare autosomal recessive lysosomal storage disease and the most frequent form of the sphingolipidoses owing to lysosomal glucocerebrosidase enzyme activity insufficiency that is attributed to glucosylceramidase beta (GBA1) gene imperfection. As yet, close to 460 pathological variations as mutations have been perceived. This study worked towards assessment of phenotypic characteristic and genetic constitution of patients with Gaucher disease in Kurdistan region. Patients and methods: This cross-sectional study involved 23 patients; all were assessed for

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17

Juhász, Pálma, Beáta Tóth, László Maródi, and Melinda Erdős. "Enzyme replacement therapy for Gaucher disease introduced in late adulthood." Orvosi Hetilap 153, no. 7 (2012): 264–70. http://dx.doi.org/10.1556/oh.2012.29281.

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Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosplenomegaly, bone pain, pathologic fractures, fatigue, bleeding tendency and recurrent infections. Regular enzyme replacement therapy which is available since 1992 in Hungary successfully reverses the symptoms of the disorder, including hematological abnormalities, bone infiltration an

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18

Paton, B. C., and A. Poulos. "Analysis of the multiple forms of Gaucher spleen sphingolipid activator protein 2." Biochemical Journal 254, no. 1 (1988): 77–84. http://dx.doi.org/10.1042/bj2540077.

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Gaucher spleen sphingolipid activator protein 2 was fractionated into concanavalin A binding- and non-binding fractions. These fractions each contained several bands on non-denaturing polyacrylamide gel electrophoresis (PAGE). The two fractions were further fractionated by electroblotting the proteins from preparative gels onto nitrocellulose, staining with Ponceau S to locate the bands of protein and then eluting the protein components from the nitrocellulose. A total of ten fractions, each containing only one or two major components, was collected. All of these subfractions activated beta-gl

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19

Alshomar, Ahmad. "Challenges in the Diagnosis of Gaucher Disease with Multiple Splenic Lesions." Journal of Applied Hematology 14, no. 2 (2023): 171–75. http://dx.doi.org/10.4103/joah.joah_36_23.

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The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient was discovered to have hepatosplenomegaly and whose radiological image revealed an unusual presentation of multiple nodular lesions in the spleen that were initially thought to represent benign hemangiomas. He had a splenectomy with a liver biopsy, which revealed features consistent with GD. The activity of β-glucocerebrosidase in dry blood sp

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20

Holleran, W. M., E. I. Ginns, G. K. Menon, et al. "Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease." Journal of Clinical Investigation 93, no. 4 (1994): 1756–64. http://dx.doi.org/10.1172/jci117160.

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21

Bossù, Gianluca, Laura Pedretti, Lorenzo Bertolini, and Susanna Esposito. "Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma." Children 10, no. 5 (2023): 869. http://dx.doi.org/10.3390/children10050869.

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Gaucher Disease (GD) is a condition resulting from an autosomal recessive inheritance pattern, characterized by a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This leads to the accumulation of glucocerebroside and other glycolipids in multiple tissues, causing damage to various organ systems. The diagnosis of GD can be challenging due to its heterogeneity, non-specific symptoms, and variability across different geographic regions and age groups. Although GD is suspected based on symptoms or signs, the diagnosis is confirmed through the measurement of deficient b-glucocerebrosida

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22

Sakisaka, S., M. Yoshino, M. Harada, E. Taniguchi, K. Yoshimoto, and M. Sata. "Recombinant beta glucocerebrosidase changed the ultrastructure of Gaucher cells associated with biochemical improvement in Gaucher disease." Gastroenterology 118, no. 4 (2000): A1484. http://dx.doi.org/10.1016/s0016-5085(00)81841-7.

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23

Standaert, David G. "What would Dr. James Parkinson think today? Mutations in beta-glucocerebrosidase and risk of Parkinson's disease." Movement Disorders 32, no. 10 (2017): 1341–42. http://dx.doi.org/10.1002/mds.27206.

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Ranieri, E., B. Paton, and A. Poulos. "Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III." Biochemical Journal 233, no. 3 (1986): 763–72. http://dx.doi.org/10.1042/bj2330763.

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Activator protein (AP), which stimulated fibroblast sphingomyelinase activity, was isolated from the spleen of a patient with Gaucher's disease type I by the combined techniques of heat and alcohol denaturation, DEAE-cellulose column chromatography, gel filtration, preparative polyacrylamide-gel electrophoresis and decyl-agarose chromatography. Urea/sodium dodecyl sulphate (SDS)/polyacrylamide-gel electrophoresis showed two bands, one with an Mr of approx. 3,000 and the other with an Mr of 5,000-6,500. Similarly, SDS/polyacrylamide-gel electrophoresis performed in the absence of urea revealed

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Brisca, Giacomo, Maja Di Rocco, Paolo Picco, Maria Beatrice Damasio, and Alberto Martini. "Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1." Arthritis 2011 (March 30, 2011): 1–4. http://dx.doi.org/10.1155/2011/361279.

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Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal disease may occur later for the infiltration of bone marrow by macrophages infiltration and bone resorption: bone involvement may be heterogeneously manifested by symptoms ranging from bone crisis to avas

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Tandon, Rahul, Rajesh Pankhaniya, Nishant Dharsandia, and Megha Anant. "Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition." Journal of Health Sciences and Professions Education 1, no. 1 (2022): 24. https://doi.org/10.5455/jhspe.20220929030219.

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Gaucher’s disease is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of deficiency of lysosomal acid beta-glucosidase(glucocerebrosidase). It is a rare genetic disorder and the most common among lysosomal storage disorders. Accumulation of glucocerebroside in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs, and central nervous system. It is common in Ashkenazi Jews but rare in India. Gaucher’s disease is a slowly progressive multisystem disease s

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Vincow, Evelyn S., Ruth E. Thomas, Gillian Milstein, et al. "Glucocerebrosidase deficiency leads to neuropathology via cellular immune activation." PLOS Genetics 20, no. 11 (2024): e1011105. http://dx.doi.org/10.1371/journal.pgen.1011105.

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Mutations in GBA (glucosylceramidase beta), which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the strongest genetic risk factor for the neurodegenerative disorders Parkinson’s disease (PD) and Lewy body dementia. Recent work has suggested that neuroinflammation may be an important factor in the risk conferred by GBA mutations. We therefore systematically tested the contributions of immune-related genes to neuropathology in a Drosophila model of GCase deficiency. We identified target immune factors via RNA-Seq and proteomics on heads from GCase-deficient flies, which revealed b

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Mistry, Pramod K., Maria Domenica Cappellini, Elena Lukina, et al. "Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists." Blood 112, no. 11 (2008): 4648. http://dx.doi.org/10.1182/blood.v112.11.4648.4648.

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Abstract In Gaucher disease (GD), inherited deficiency in lysosomal acid beta-glucocerebrosidase leads to the widespread accumulation of glycolipid-laden macrophages in tissues and consequent multisystemic disease. The presenting symptoms of type 1 (non neuronopathic) Gaucher disease commonly reflect the haematologic components of the disease, i.e., splenomegaly, thrombocytopenia, anaemia, and bleeding tendency. Consequently the majority of patients are referred to haematologists for diagnosis and management. However, the remarkable heterogeneity of the disease compounded by its rarity present

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Costa, Roberto, Stefania Bellesso, Susanna Lualdi, et al. "A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models." Human Molecular Genetics 29, no. 2 (2019): 274–85. http://dx.doi.org/10.1093/hmg/ddz293.

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Abstract Bone differentiation defects have been recently tied to Wnt signaling alterations occurring in vitro and in vivo Gaucher disease (GD) models. In this work, we provide evidence that the Wnt signaling multi-domain intracellular transducers Dishevelled 1 and 2 (DVL1 and DVL2) may be potential upstream targets of impaired beta glucosidase (GBA1) activity by showing their misexpression in different type 1 GD in vitro models. We also show that in Gba mutant fish a miR-221 upregulation is associated with reduced dvl2 expression levels and that in type I Gaucher patients single-nucleotide var

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Strasberg, P. "Evaluation of the biotinylated (Blugene) vs 32P-labeled cDNA probes of beta-glucocerebrosidase: relative sensitivities in genomic and other systems." Clinical Chemistry 35, no. 7 (1989): 1512–16. http://dx.doi.org/10.1093/clinchem/35.7.1512.

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Abstract The sensitivity, rapidity, and ease of use of biotinylated (Blugene, Bethesda Research Laboratories) and 32P cDNA probes have been compared, the probe being the cDNA for beta-glucocerebrosidase (EC 3.1.2.45). With the Blugene kit I could detect 2 pg of biotinylated DNA on dot blots. However, under conditions of hybridization, the lower limit of detection for unlabeled cDNA (transblotted onto nitrocellulose) by its labeled counterpart was 5000-fold smaller (10 pg vs 50 ng) for the isotopically labeled probe. 32P- and Blugene-probes hybridized detectably with 0.5 and 10 micrograms, resp

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Cabasso, Or, Sumit Paul, Gali Maor, et al. "The Uncovered Function of the Drosophila GBA1a-Encoded Protein." Cells 10, no. 3 (2021): 630. http://dx.doi.org/10.3390/cells10030630.

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Human GBA1 encodes lysosomal acid β-glucocerebrosidase (GCase), which hydrolyzes cleavage of the beta-glucosidic linkage of glucosylceramide (GlcCer). Mutations in this gene lead to reduced GCase activity, accumulation of glucosylceramide and glucosylsphingosine, and development of Gaucher disease (GD). Drosophila melanogaster has two GBA1 orthologs. Thus far, GBA1b was documented as a bone fide GCase-encoding gene, while the role of GBA1a encoded protein remained unclear. In the present study, we characterized a mutant variant of the fly GBA1a, which underwent ERAD and mildly activated the UP

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Okai, Takuro, Sho Sato, Mugdha Deshpande та ін. "AAV delivery of GBA1 suppresses α-synuclein accumulation in Parkinson’s disease models and restores functions in Gaucher’s disease models". PLOS One 20, № 5 (2025): e0321145. https://doi.org/10.1371/journal.pone.0321145.

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Biallelic mutations in the glucosylceramidase beta 1 (GBA1) gene are the underlying genetic cause of Gaucher’s disease (GD), resulting in a deficient lysosomal hydrolase and subsequent accumulation of glycosphingolipids. More recently, GBA1 mutations have been identified as the most prevalent genetic risk factor for Parkinson’s disease (PD), associated with more pronounced symptoms characterized by earlier onset and accelerated cognitive decline. In these GBA-associated PD patients the α-synuclein pathology is more prominent, and recent data suggest a link between α-synucleinopathies and GBA1

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Kiliç, Ayse, Gürsel Biberoğlu, Murat Öktem, et al. "Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidase recovery in Gaucher disease fibroblasts resulting from homozygous p.L483P mutation." Molecular Genetics and Metabolism 138, no. 2 (2023): 107181. http://dx.doi.org/10.1016/j.ymgme.2022.107181.

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Ronaghinia, A. A., R. Soares, L. M. Magalhães, D. C. Hilt, and J. Holenz. "Population pharmacokinetic analysis of BIA 28-6156, an allosteric activator of beta-glucocerebrosidase (GCase), in Parkinson’s Disease patients and healthy volunteers." Parkinsonism & Related Disorders 122 (May 2024): 106569. http://dx.doi.org/10.1016/j.parkreldis.2024.106569.

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35

Ruz, Clara, José Luis Alcantud, Francisco Vives, et al. "Seventy-Two-Hour LRRK2 Kinase Activity Inhibition Increases Lysosomal GBA Expression in H4, a Human Neuroglioma Cell Line." International Journal of Molecular Sciences 23, no. 13 (2022): 6935. http://dx.doi.org/10.3390/ijms23136935.

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Mutations in LRRK2 and GBA1 are key contributors to genetic risk of developing Parkinson’s disease (PD). To investigate how LRRK2 kinase activity interacts with GBA and contributes to lysosomal dysfunctions associated with the pathology of PD. The activity of the lysosomal enzyme β-Glucocerebrosidase (GCase) was assessed in a human neuroglioma cell model treated with two selective inhibitors of LRKK2 kinase activity (LRRK2-in-1 and MLi-2) and a GCase irreversible inhibitor, condutirol-beta-epoxide (CBE), under 24 and 72 h experimental conditions. We observed levels of GCase activity comparable

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Usenko, Tatiana, Anastasia Bezrukova, Margarita M. Rudenok, et al. "Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity." International Journal of Molecular Sciences 24, no. 15 (2023): 12164. http://dx.doi.org/10.3390/ijms241512164.

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Mutations in the GBA1 gene represent the major genetic risk factor for Parkinson’s disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by the GBA1 gene participates in both the endolysosomal pathway and the immune response. Disruption of these mechanisms is involved in PD pathogenesis. However, molecular mechanisms of PD associated with GBA1 mutations (GBA-PD) are unknown today in particular due to the partial penetrance of GBA1 variants in PD. The modifiers of GBA1 penetrance have not been elucidated. We characterized the transcriptomic profiles of cells from the substa

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Menkovic, Iskren, Michel Boutin, Abdulfatah Alayoubi, et al. "Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry." Diagnostics 12, no. 6 (2022): 1414. http://dx.doi.org/10.3390/diagnostics12061414.

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Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies by our group targeted several new potential urinary biomarkers. Apart from lyso-Gb1, these studies highlighted lyso-Gb1 analogs −28, −26, −12 (A/B), +2, +14, +16 (A/B), +30, and +32 Da, and polycyclic lyso-Gb1 analogs 362, 366, 390, and 394 Da. The main objective of the current study was to develop and validate a robust UPLC-MS/MS method to study the urine distribution of these biomarkers in patients. Method: Urine samples were purified using solid-phase

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Pasternak, SH, C. Silveira, K. Coleman, et al. "A.1 Repurposing Ambroxol as a disease-modifying treatment for Parkinson’s disease dementia: A phase 2, randomized, double blind placebo-controlled trial." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 51, s1 (2024): S3. http://dx.doi.org/10.1017/cjn.2024.74.

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Background: Currently there are no disease modifying treatment for Synucleinopathies including Parkinson’s disease Dementia (PDD). Carrying a mutation in the GBA gene (beta-glucocerebrosidase/ GCAse) is a leading risk factor for synucleinopathies. Raising activity GCAse lowers α-synuclein levels in cells and animal models. Ambroxol is a pharmacological chaperone for GCAse and can raise GCAse levels. Our goal is to test Ambroxol as a disease-modifying treatment in PDD. Methods: We randomized fifty-five individuals with PDD to Ambroxol 1050mg/day, 525mg/day, or placebo for 52 weeks. Primary outc

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Miranda, Carlos J., Elisa Chisari, Natalie Northcott, et al. "One-off liver directed AAV gene therapy achieves long term uptake of acid beta-glucocerebrosidase by macrophages of affected tissues in Gaucher disease." Molecular Genetics and Metabolism 129, no. 2 (2020): S110. http://dx.doi.org/10.1016/j.ymgme.2019.11.283.

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Polinski, Nicole K., Terina N. Martinez, Alexander Gorodinsky, et al. "Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model." PLOS ONE 16, no. 6 (2021): e0252325. http://dx.doi.org/10.1371/journal.pone.0252325.

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Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism. Depletion of GCase, typically by homozygous mutations in GBA1, is linked to the lysosomal storage disorder Gaucher’s disease (GD) and distinct or heterozygous mutations in GBA1 are associated with increased Parkinson’s disease (PD) risk. While numerous genes have been linked to heritable PD, GBA1 mutations in aggregate are the single greatest risk factor for development of idiop

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Bello, Adriana C., and Rossana Cortez. "Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report." Blood 132, Supplement 1 (2018): 4950. http://dx.doi.org/10.1182/blood-2018-99-110263.

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Abstract Background Gaucher's disease is a rare autosomal recessive disorder that results from the deficiency of the enzyme glucocerebrosidase, causing deposition of glucocerebroside in cells of the macrophage-monocyte system. Type 3 disease has varied presentations, with neurologic involvement, in addition to progressive hepato-splenomegaly, anemia, thrombocytopenia and skeletal manifestations. Case Report 2 month old infant girl, was noted to have abdominal enlargement, and was taken to the local rural provider. She was referred to a pediatrician. From there, she was transferred to our insti

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F., ETIENE IRINEU, ZOUIRI G., RHOUDA H., et al. "Gaucher disease: About an observation." World Journal of Advanced Research and Reviews 22, no. 1 (2024): 196–200. https://doi.org/10.5281/zenodo.14196811.

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Introduction: Gaucher disease is an inherited lysosomal storage disorder caused by defective discomfort. The consequence is the deficiency or complete absence of an important enzyme, β-glucocerebrosidase, which controls specific metabolic processes in the body.Characterized by hematological, visceral and bone lesions and classified into 3 types. The main objective of our study is to describe the diagnostic peculiarity of our patient with Gaucher Disease.    Patient and Method: We report the observation of a child 6 years and 3 months old, history of prematurity, from a

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Altarescu, Gheona, Deborah Elstein, Ari Zimran, Talia Eldar Geva, Ephrat Levy Lahad, and Paul Renbaum. "Preimplantation Genetic Diagnosis for Benign Hematological Disorders Combined with HLA Matching and Stem Cells Development." Blood 120, no. 21 (2012): 3167. http://dx.doi.org/10.1182/blood.v120.21.3167.3167.

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Abstract Abstract 3167 Preimplantation genetic diagnosis (PGD) for molecular disorders involves development of disease- and family-specific protocols that allow simultaneous amplification of the mutation with multiple polymorphic markers in single cells. We present the development and results of PGD for 6 non-lethal hematological disorders: dyskeratosis congenita, Gaucher type 1, Fanconi C and A, hemophilia A, and beta thalassemia. For beta thalassemia and Fanconi A we performed combined PGD for the disease and HLA matching since each family had an affected child requiring bone marrow transpla

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Jewett, Kathryn A., Ruth E. Thomas, Chi Q. Phan, et al. "Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles." PLOS Genetics 17, no. 2 (2021): e1008859. http://dx.doi.org/10.1371/journal.pgen.1008859.

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Abnormal protein aggregation within neurons is a key pathologic feature of Parkinson’s disease (PD). The spread of brain protein aggregates is associated with clinical disease progression, but how this occurs remains unclear. Mutations in glucosidase, beta acid 1 (GBA), which encodes glucocerebrosidase (GCase), are the most penetrant common genetic risk factor for PD and dementia with Lewy bodies and associate with faster disease progression. To explore how GBA mutations influence pathogenesis, we previously created a Drosophila model of GBA deficiency (Gba1b) that manifests neurodegeneration

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Glajch, Kelly E., Tim E. Moors, Yi Chen та ін. "Wild-type GBA1 increases the α-synuclein tetramer–monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice". Proceedings of the National Academy of Sciences 118, № 31 (2021): e2103425118. http://dx.doi.org/10.1073/pnas.2103425118.

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Loss-of-function mutations in acid beta-glucosidase 1 (GBA1) are among the strongest genetic risk factors for Lewy body disorders such as Parkinson’s disease (PD) and Lewy body dementia (DLB). Altered lipid metabolism in PD patient–derived neurons, carrying either GBA1 or PD αS mutations, can shift the physiological α-synuclein (αS) tetramer–monomer (T:M) equilibrium toward aggregation-prone monomers. A resultant increase in pSer129+ αS monomers provides a likely building block for αS aggregates. 3K αS mice, representing a neuropathological amplification of the E46K PD–causing mutation, have d

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Takagi, Yutaka, Hidemi Nakagawa, Toshiaki Yaginuma, Yoshinori Takema, and Genji Imokawa. "An accumulation of glucosylceramide in the stratum corneum due to attenuated activity of beta-glucocerebrosidase is associated with the early phase of UVB-induced alteration in cutaneous barrier function." Archives of Dermatological Research 297, no. 1 (2005): 18–25. http://dx.doi.org/10.1007/s00403-005-0567-7.

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Skrahin, Aliaksandr, Mia Horowitz, Majdolen Istaiti, et al. "GBA1-Associated Parkinson’s Disease Is a Distinct Entity." International Journal of Molecular Sciences 25, no. 13 (2024): 7102. http://dx.doi.org/10.3390/ijms25137102.

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GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that differentiate GBA1-PD from idiopathic Parkinson’s disease (iPD). GBA1-PD typically presents with earlier onset and more rapid progression, with a poor response to standard PD medications. It is marked by pronounced cognitive impairment and a higher burden of non-motor symptoms compared to iPD. Additionally, patients with GBA1-PD often exhibit

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Ali Ahmed, Ikhlas, and Alaa Abbas Fadhel. "A reappraisal of Gaucher disease patients - Clinical presentation, and diagnosis in rare disease unit of central child teaching hospital in Baghdad province." Biomedicine 43, no. 02 (2023): 735–41. http://dx.doi.org/10.51248/.v43i02.2700.

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Introduction and Aim: Gaucher disease (GD) is an autosomal recessive ailment caused due to mutations in the GBA1 gene, encoding for the lysosomal enzyme, glucocerebrosidase. The aim was to evaluate the clinical, biochemical, and molecular parameters associated with this disease, as well as to identify symptoms and covariables thought to be most diagnostic of early GD presentation, allowing for early diagnosis and management. Methodology: This cross-sectional study involved twenty-six patients diagnosed with GD at the Metabolic Department of Central Child Teaching Hospital, Baghdad, Iraq. Diagn

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Aranda, Paulo C., and Roberto Rozenberg. "Gaucher Disease: Report about Two Cases with Mild Mutations and Severe Clinical Disease and the Response Using Enzyme Replacement Therapy." Blood 106, no. 11 (2005): 3879. http://dx.doi.org/10.1182/blood.v106.11.3879.3879.

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Abstract INTRODUCTION: Gaucher Disease is the most common genetic lysosomal storage disease due to autosomal recessive mutations in the gene encoding glucocerebrosidase enzyme, which cause a deficient enzyme activity, involving heterogeneous signs and symptoms, like hepatomegaly, splenomegaly, thrombocytopenia, bleeding trend, anemia, bone disease, pulmonary disease, acute or cronic CNS disease (Gaucher Disease types I, II or III). We discuss two patients, sisters, whose father and mother are cousins, who have a mild genetic mutation, but severe systemic and moderate CNS disease, the treatment

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Liu, Lin, Yicheng Zhao, Andrew Hedman, et al. "Novel AAV gene therapy produces beta-glucocerebrosidase with high levels of M6P to enable cellular uptake and cross-correction in the CNS as a potential treatment for type 2/3 Gaucher disease." Molecular Genetics and Metabolism 138, no. 2 (2023): 107210. http://dx.doi.org/10.1016/j.ymgme.2022.107210.

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