Výsledky vyhledávání - "lysosomal glucocerebrosidase"

An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient

Autor: Hailey C. Barootes, C. Anthony Rupar, Chitra Prasad, D. Ashok

Publikováno v: Clinical Pediatrics
Paediatrics Publications

Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a deficiency of lysosomal glucocerebrosidase, which results in the accumulation of glycosphingolipid substrates, primarily glucosylceramide, in the phagocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37d1e8231e1442d4c998c8f4e818d178
http://europepmc.org/articles/PMC8679167

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Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity

Autor: Shalini Padmanabhan, Warren D. Hirst, Maria Nguyen, Tiffany J. Young, Nicolas Dzamko, Daniel Ysselstein, Dimitri Krainc

Publikováno v: Movement Disorders. 36:2719-2730

Mutations in GBA1, which encode for the protein glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease and dementia with Lewy bodies. In addition, growing evidence now suggests that the loss of GCase activity is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fcac9631f6f49b3a5c032aac193a52fd
https://doi.org/10.1002/mds.28815

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Akademický článek

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Autor: Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira, Olga Amaral

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)

In order to delineate a better approach to functional studies, we have selected 23 missense mutations distributed in different domains of two lysosomal enzymes, to be studied by in silico analysis. In silico analysis of mutations relies on computatio

Externí odkaz: https://doaj.org/article/6ded04b575dc48deb3bd5f91fe1f133b

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Importance of professional oral hygiene for prevention of aspiration pneumonia caused by progressive central nervous system disorders in Type 2 Gaucher disease

Autor: Yamamoto Keiichi, Yoshimura Rie, Suzuki Yoshiko, Takato Tsuyoshi, Hoshi Kazuto, Fukuta Jinichi, Komatsu Noriko, Watanabe Eri

Publikováno v: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology. 31:346-349

Gaucher disease (GD) is rare that is caused by an enzyme deficiency of lysosomal glucocerebrosidase and is one of the most frequent lysosomal storage diseases. We present here the case of an infant male with Type 2 GD (GD2). GD2 is clinically charact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d5c119a4171a869a86a9f5f52b0152c8
https://doi.org/10.1016/j.ajoms.2019.03.007

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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Autor: Olga Amaral, Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)
International Journal of Molecular Sciences

Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275066/ Note: Where it reads BBB-BMD/6301, should be PTDC/BIM-MEC/4762/2014. Erro de edição, tendo sido solicitado correção. In order to delineate a better approach to functional stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e2003b20b6c9d5db440464ba9f380a
https://www.mdpi.com/1422-0067/19/11/3409

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The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

Autor: Giulia Soldà, Michela Deleidi, Stefano Goldwurm, Valeria Rimoldi, Rosanna Asselta, Maura Samarani, Massimo Aureli, Alessio Di Fonzo, Letizia Straniero, Rejko Krüger, Stefano Duga

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Scientific reports, 7(1), 12702. England (2017).
Scientific Reports
Scientific reports 7(1), 12702 (2017). doi:10.1038/s41598-017-12973-5

Mutations in the GBA gene, encoding lysosomal glucocerebrosidase, represent the major predisposing factor for Parkinson’s disease (PD), and modulation of the glucocerebrosidase activity is an emerging PD therapy. However, little is known about mech

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b578116239757fa0851e0f9df3a6242
http://link.springer.com/article/10.1038/s41598-017-12973-5

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Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Autor: Ana Joana Duarte, Olga Amaral, Diogo Ribeiro, José Bragança, Luciana Moreira, Renato Santos

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Stem Cell Research, Vol 41, Iss, Pp-(2019)

The authors thank Hildeberto Correia (Department of Human Genetics in Lisbon), for the karyotype analysis; José Ferrão (Department of Human Genetics in Lisbon), for the STR analysis; the collaboration of the central core services of Department of H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::416335e9fae9dd34ba8491464ece58a0
https://hdl.handle.net/10400.18/6527

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Ins and Outs of Cost Effectiveness Analysis of Enzyme Replacement Therapy for Gaucher's Disease

Autor: 10.24942/bjpmr.2017.174

Gaucher’s syndrome is the distinguished prevailing disorder characterized under the lysosomal repository disorder. Gaucher’s is a example for operation of molecular medication to analytical delineation, treatment and diagnosis. The diverse and mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2659::769fd3c384ff595da312884ae1b0fa8d
https://zenodo.org/record/1095415

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