Relevant bibliographies by topics / Β-glucocerebrosidase gene

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Academic literature on the topic 'Β-glucocerebrosidase gene'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Β-glucocerebrosidase gene"

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Moraitou, Marina, Georgios Hadjigeorgiou, Ioannis Monopolis, Efthimios Dardiotis, Maria Bozi, Demitris Vassilatis, Lluisa Vilageliu, et al. "β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease." Molecular Genetics and Metabolism 104, no. 1-2 (September 2011): 149–52. http://dx.doi.org/10.1016/j.ymgme.2011.06.015.

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Chen, Mingyi, and Jun Wang. "Gaucher Disease: Review of the Literature." Archives of Pathology & Laboratory Medicine 132, no. 5 (May 1, 2008): 851–53. http://dx.doi.org/10.5858/2008-132-851-gdrotl.

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Abstract We present a brief review of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a rare autosomal recessive disorder characterized by defective function of the catabolic enzyme β-glucocerebrosidase, leading to an accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system, especially histiocytes in the spleen, lymph nodes, and bone marrow; Kupffer cells in the liver; osteoclasts in bone; microglia in the central nervous system; alveolar macrophages in the lungs; and histiocytes in the gastrointestinal tracts, genitourinary tracts, and the peritoneum. Clinical signs and symptoms include neurologic dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia, and thrombocytopenia. Enzyme replacement therapy with recombinant glucocerebrosidase is the mainstay of treatment for Gaucher disease, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.
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Singla, Sanjay, Rameshwar Ninama, Bhupesh Jain, and Suresh Goyal. "Gaucher's disease: a case report." International Journal of Research in Medical Sciences 5, no. 4 (March 28, 2017): 1712. http://dx.doi.org/10.18203/2320-6012.ijrms20171295.

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Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. This enzyme is encoded by a gene on chromosome 1. Accumulation of glucosylceramide 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. Around five hundred cases are identified and diagnosed in India. Serum β-glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. Here we report a case of Gaucher’s disease.
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Pocovi, Miguel, Ana Cenarro, Fernando Civeira, Miguel A. Torralba, Juan I. Perez-Calvo, Pilar Mozas, Pilar Giraldo, et al. "β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia." Lancet 351, no. 9120 (June 1998): 1919–23. http://dx.doi.org/10.1016/s0140-6736(97)09490-7.

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Laubscher, Kevin H., Robert H. Glew, Robert E. Lee, and Richard T. Okinaka. "Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene." Human Mutation 3, no. 4 (1994): 411–15. http://dx.doi.org/10.1002/humu.1380030418.

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Massaro, Giulia, Michael P. Hughes, Sammie M. Whaler, Kerri-Lee Wallom, David A. Priestman, Frances M. Platt, Simon N. Waddington, and Ahad A. Rahim. "Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes." Human Molecular Genetics 29, no. 12 (January 10, 2020): 1933–49. http://dx.doi.org/10.1093/hmg/ddz317.

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Abstract Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the accumulation of storage material in visceral organs and in some cases the brain of affected patients. While there is a commercially available treatment for the systemic manifestations, neuropathology still remains untreatable. We previously demonstrated that gene therapy represents a feasible therapeutic tool for the treatment of the neuronopathic forms of Gaucher disease (nGD). In order to further enhance the therapeutic affects to the central nervous system, we systemically delivered an adeno-associated virus (AAV) serotype 9 carrying the human GBA gene under control of a neuron-specific promoter to an nGD mouse model. Gene therapy increased the life span of treated animals, rescued the lethal neurodegeneration, normalized the locomotor behavioural defects and ameliorated the visceral pathology. Together, these results provided further indication of gene therapy as a possible effective treatment option for the neuropathic forms of Gaucher disease.
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Radha Rama Devi, Akella, Srilatha Kadali, Ananthaneni Radhika, Vineeta Singh, M. Kumar, Gummadi Reddy, and Shaik Naushad. "Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene." Journal of Pediatric Genetics 08, no. 02 (October 26, 2018): 081–85. http://dx.doi.org/10.1055/s-0038-1675372.

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AbstractThis is the first reported case of prosaposin (PSAP) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic–clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had anemia, thrombocytopenia, elevated chitotriosidase, and normal activity of acid sphingomyelinase and low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA). The child succumbed in the fourth month of life due to persistent respiratory distress and refractory seizures. The clinical phenotype, cherry red spots, elevated chitotriosidase, and lysosomal assays led to the suspicion of Gaucher disease. Exome sequencing revealed a homozygous stop codon mutation in the PSAP gene (c.G1228T, p.Glu410ter). Prenatal diagnosis in the next pregnancy revealed a carrier fetus, who was unaffected postnatally. The diagnosis of specific activator deficiency such as saposin C and saposin D deficiency (in the current study) should be considered and tested for when Gaucher disease is suspected in an infant with partially deficient or near normal GBA activity.
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Naz, Arshi, Qurat Abedin, Shariq Ahmed, Saima Siddiqui, and Tahir Shamsi. "Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease." Blood 132, Supplement 1 (November 29, 2018): 4952. http://dx.doi.org/10.1182/blood-2018-99-120385.

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Abstract Introduction: Gaucher disease (GD) is one of the lysosomal storage diseases that is rare and inherited autosomal recessively. There is insufficiency of glucocerebrosidase enzyme that leads to the build up of un-degraded substrates in white blood cells causing anemia, hepatosplenomegaly and skeletal disease. This enzyme deficiency is linked with the defect of its gene (GBA) that codes for this enzyme. Initial diagnosis is made by the estimation of glucocerebrosidase level in blood and confirmed by genetic analysis of GBA gene. To identify the mutations of GBA gene in Pakistani patients with GD from different regions of Pakistan. Sampling & methodology: The sample and demographic data was collected in National Institute of Blood Disease and Bone marrow Transplantation after approval of IRB and written informed consent of patients. We collected total 19 blood samples, out of which 5 had Gaucher's disease, 10 samples were parents of the index cases and 4 were control. The methodology consisted of DNA extraction and quantification from peripheral blood. Genetic analysis of coding regions of GBA gene was done via gene amplification, gel electrophoresis and sequencing. Result: Mutation was found in two out of five families that makes the prevalence of GBA gene mutation 40%. These were diagnosed on reduced enzyme levels and found to have L444P (c.1448T>C) mutation in homozygous form in 10th exon of GBA gene. The parents of that patient carried the same mutation in one allele. Rest of the patients who were diagnosed on bone marrow morphology showed no mutation in GBA gene. Conclusion: Our results illustrate that GBA gene mutation was found in those patients who were diagnosed by the estimation of β-glucosidase enzyme levels rather than on bone marrow morphology. In our population, the mutation L444P was found, which is the most frequent gene mutation found in the world. Since this study is conducted in a small number of patients therefore it is recommended that large cohorts of patients should be evaluated in future for genetic mutations among Gaucher's patients in Pakistan Key words: Gaucher disease, storage disorder, GBA gene Disclosures No relevant conflicts of interest to declare.
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Cabasso, Or, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Johannes Aerts, and Mia Horowitz. "The Uncovered Function of the Drosophila GBA1a-Encoded Protein." Cells 10, no. 3 (March 12, 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 UPR machinery. RNA-seq analyses of homozygous mutant flies revealed upregulation of inflammation-associated as well as of cell-cycle related genes and reduction in programmed cell death (PCD)-associated genes, which was confirmed by qRT-PCR. We also observed compromised cell death in the midgut of homozygous larvae and a reduction in pupation. Our results strongly indicated that GBA1a-encoded protein plays a role in midgut maturation during larvae development.
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Karakoyun, Miray, Ebru Canda, Ezgi Kiran Tasci, Eser Dogan, Mahmut Coker, and Sema Aydogdu. "Two siblings with Gaucher type 3c: different clinical presentations." Journal of Pediatric Endocrinology and Metabolism 32, no. 5 (May 27, 2019): 533–36. http://dx.doi.org/10.1515/jpem-2018-0549.

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Abstract Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentation We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case’s liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.
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Dissertations / Theses on the topic "Β-glucocerebrosidase gene"

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Peková, Barbora. "Vyšetření rekombinací mezi genem a pseudogenem pro β-glukocerebrosidasu vedoucích ke vzniku patogenních alel." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-355672.

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This diploma thesis provides an overview of gene conversion, its role in the pathogenesis of human diseases and the use of methods based on next-generation sequencing (NGS) for detection rare variants of DNA sequence. Labeling of target DNA molecules by random nucleotides in primer and NGS were used for detection point mutations arising de novo in the β-glucocerebrosidase gene by gene conversion between it and its pseudogene in meiotic and mitotic cells of control subjects. Primers specific for the active gene were used to selectively amplify the ninth and tenth exon of the gene where "recombinant" variants occur most frequently. Sequences generated from 20 genomic DNA samples on Illumina MiSeq platform were quality filtered, sorted by unique labels and consensus sequences were created from alignments of sequences carrying the same DNA tag. The number of potential point mutations in the samples ranged between 12 and 48. The mutations were manually re-evaluated from the alignments. The number of alignments with unique labeling was in the range of 7-15 thousand per sample. Only three samples carried possible recombinant mutations, suggesting a lower frequency of conversion in the region than reported by other techniques. Analysis of unique sequences in primer indicated possible ways to improve the...
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