المؤلفون: Lopez, Manuel E., Wendt, Daniel, Lawrence, Roger, Gong, Kerui, Ong, Hoonsan, Yip, Bryan, Chen, Joseph, Mangini, Linley, Handyside, Britta, Giaramita, Alexander, Lamichhane, Aashish, Lo, Melanie, Agrawal, Vishal, Van Vleet, Jeremy, Abolhesn, Amanda, Felix, Jessica B., Villalpando, Isaac, Bhat, Vikas, De Angelis, Rolando, Ru, Yuanbin

المصدر: PLoS ONE; 1/3/2025, Vol. 20 Issue 1, p1-19, 19p

مصطلحات موضوعية: ENZYME replacement therapy, ENZYME stability, NEURODEGENERATION, LABORATORY mice, HEXOSAMINIDASE

المؤلفون: Feng, Yuyu, Huang, Yonglan, Zhao, Xiaoyuan, Sheng, Huiying, Su, Xueying, Yin, Xi, Li, Liu, Zhang, Wen

المصدر: BMC Pediatrics; 12/23/2024, Vol. 24 Issue 1, p1-8, 8p

مصطلحات موضوعية: SHORT stature, HEXOSAMINIDASE, LYSOSOMAL storage diseases, MEDICAL sciences, INTELLECTUAL disabilities

المؤلفون: Paschinger, Katharina¹, Wöls, Florian¹, Shi Yan^1,2, Chunsheng Jin³, Vanbeselaere, Jorick¹, Dutkiewicz, Zuzanna¹, Arcalis, Elsa⁴, Malzl, Daniel¹, Wilson, Iain B. H.¹

المصدر: Journal of Biological Chemistry. Apr2023, Vol. 299 Issue 4, p1-19. 19p.

مصطلحات موضوعية: *HEXOSAMINIDASE, *GREEN fluorescent protein, *CAENORHABDITIS elegans, *CHIMERIC proteins, *FLUORESCENCE microscopy, *GLYCANS, *ISOMERS

المؤلفون: Leifeng Guo, Yanqing Peng, Ronghua Li, Zilu Ji, Michaël Bekaert, Changkao Mu, Herve Migaud, Weiwei Song, Ce Shi, Chunlin Wang

المصدر: Aquaculture Reports, Vol 38, Iss , Pp 102295- (2024)

مصطلحات موضوعية: Scylla paramamosain, Long-term low salinity, Gill transcriptome, Haemolymph osmolality, Hexosaminidase, Aquaculture. Fisheries. Angling, SH1-691

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352513424003831; https://doaj.org/toc/2352-5134

URL الوصول: https://doaj.org/article/960ca2b124da45eca3173976477fef57

المؤلفون: Esther Osher, Yossi Anis, Ruth Singer-Shapiro, Nataly Urshanski, Tamar Unger, Shira Albeck, Oren Bogin, Gary Weisinger, Fortune Kohen, Avi Valevski, Aviva Fattal-Valevski, Liora Sagi, Michal Weitman, Yulia Shenberger, Nadav Sagiv, Ruth Navon, Meir Wilchek, Naftali Stern

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 3, Pp 101300- (2024)

مصطلحات موضوعية: late-onset Tay-Sachs, β-hexosaminidase A, HexA, HEXA, HEXB, enzyme replacement therapy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050124001165; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/b46b268575554f2eb291b7d475a23c94

المؤلفون: Hernandez, Juan C.¹ (AUTHOR), Daza, Jesus A.² (AUTHOR), Alméciga-Díaz, Carlos Javier² (AUTHOR), Espejo, Angela J.² (AUTHOR)

المصدر: Molecular Genetics & Metabolism. Feb2025, Vol. 144 Issue 2, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *GOLD nanoparticles, *HEXOSAMINIDASE, *THERAPEUTICS

Alternate Title: Tay-Sachs disease: a case report.

المؤلفون: Grupenmacher Iankilevich, Pérola¹ perolagrup@gmail.com, Grupenmacher Iankilevich, Léa², Bento Andreoli Gonçalves, Anah Julia², Antunes, Isadora², Gemballa, Larissa², Victor Mierzwa, Rafael³

المصدر: Revista Brasileira de Oftalmologia. 2023, Vol. 82, p1-4. 4p.

مصطلحات موضوعية: *HEXOSAMINIDASE, *ENZYME deficiency, *METABOLIC disorders, *GENETICS, *LIPID metabolism, *DNA analysis, *JUVENILE diseases

المؤلفون: Jiufei Duan, Zhao Huang, Siyuan Qin, Bowen Li, Zhe Zhang, Rui Liu, Kui Wang, Edouard C. Nice, Jingwen Jiang, Canhua Huang

المصدر: Journal of Extracellular Vesicles, Vol 13, Iss 7, Pp n/a-n/a (2024)

مصطلحات موضوعية: β‐hexosaminidase B (HEXB), EV secretion, hepatocellular carcinoma, lysosome, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-3078

URL الوصول: https://doaj.org/article/b843fd2824794d81ac98596eea7cbea2

المؤلفون: Alex E. Ryckman, Natalie M. Deschenes, Brianna M. Quinville, Karlaina J.L. Osmon, Melissa Mitchell, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101168- (2024)

مصطلحات موضوعية: gene therapy, GM2 gangliosidosis, viral vector, AAV, dosage, hexosaminidase A, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123002073; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/bc193c876a02476880176551e4687473

المؤلفون: Zargar, Z., Maleknia, M., Sabzeghabaiean, M., Mohammadi-Asl, J., Golab, F., Naseroleslami, M.

المصدر: Russian Journal of Genetics; Jan2024, Vol. 60 Issue 1, p109-120, 12p

مصطلحات موضوعية: GENE families, FETUS, MISSENSE mutation, FETAL abnormalities, HEXOSAMINIDASE, LYSOSOMAL storage diseases

المؤلفون: Nieto‐Caballero, Marina¹ (AUTHOR) marina.nietocaballero@colorado.edu, Gomez, Odessa M.¹ (AUTHOR), Shaughnessy, Richard² (AUTHOR), Hernandez, Mark¹ (AUTHOR) mark.hernandez@colorado.edu

المصدر: Indoor Air. Jan2022, Vol. 32 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *MICROBIOLOGICAL aerosols, *HEXOSAMINIDASE, *AEROSOLS, *AEROSOL sampling, *POLYMERASE chain reaction, *FLUORESCENCE

مصطلحات جغرافية: OKINAWA-shi (Japan)

المؤلفون: Eleonora Calzoni, Giada Cerrotti, Krizia Sagini, Federica Delo, Sandra Buratta, Roberto Maria Pellegrino, Husam B. R. Alabed, Federica Fratini, Carla Emiliani, Lorena Urbanelli

المصدر: Journal of Functional Biomaterials, Vol 15, Iss 6, p 153 (2024)

مصطلحات موضوعية: extracellular vesicles, microvesicles, exosomes, β-hexosaminidase, lysosomal enzymes, enzyme replacement therapy (ERT), Biotechnology, TP248.13-248.65, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2079-4983/15/6/153; https://doaj.org/toc/2079-4983

URL الوصول: https://doaj.org/article/4a60c4be7a2b40a4a1f15b07c4d54926

المؤلفون: Dutkiewicz, Zuzanna, Varrot, Annabelle, Breese, Karen, J, Stubbs, Keith, A, Nuschy, Lena, Adduci, Isabella, Paschinger, Katharina, Wilson, Iain, B H

المساهمون: Universität für Bodenkultur Wien = University of Natural Resources and Life Sciences Vienne, Autriche (BOKU), Centre de Recherches sur les Macromolécules Végétales (CERMAV), Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), The University of Western Australia (UWA), Veterinärmedizinische Universität Wien

المصدر: ISSN: 0006-2960.

مصطلحات موضوعية: Hexosaminidase, glycoconjugate metabolism, crystallography, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology

الاتاحة: https://hal.science/hal-04731779
https://hal.science/hal-04731779v1/document
https://hal.science/hal-04731779v1/file/94-Biochemistry_24_Hex2r.pdf
https://doi.org/10.1021/acs.biochem.4c00187

المؤلفون: Ayna Abdyeva, Ekaterina Kurtova, Irina Savinkova, Maksim Galkov, Liubov Gorbacheva

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1122 (2024)

مصطلحات موضوعية: diabetes mellitus, β-hexosaminidase, hyperglycemia, lipopolysaccharide (LPS), astrocyte, inflammation, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/1122; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/1fdc88a9237746d28b0911939bf32812

الاتاحة: https://doi.org/10.3390/ijms25021122
https://doaj.org/article/1fdc88a9237746d28b0911939bf32812

المؤلفون: Maricel Martínez, María Laura Mariani, Celina García, Juan Pedro Ceñal, Alicia Beatriz Penissi

المصدر: Biomedicine & Pharmacotherapy, Vol 170, Iss , Pp 116009- (2024)

مصطلحات موضوعية: Horner-Wadsworth-Emmons reaction, Mast cells, Compound 48/80, Calcium ionophore A23187, β-hexosaminidase, Degranulation, Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223018073; https://doaj.org/toc/0753-3322; https://doaj.org/article/829d973bb0124b5398bc1199db6f7e4d

الاتاحة: https://doi.org/10.1016/j.biopha.2023.116009
https://doaj.org/article/829d973bb0124b5398bc1199db6f7e4d

المؤلفون: Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101014- (2023)

مصطلحات موضوعية: Late-onset GM2 gangliosidoses, Tay-Sachs disease, Sandhoff disease, β-hexosaminidase A, Diagnosis, Patient perspective, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000605; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c45dd6a5b126438f90a862a1d5bd9c7b

المؤلفون: Doaa M. A. Ibrahim, Ola S. M. Ali, Hala Nasr, Ekram Fateen, Alice AbdelAleem

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Infantile Tay-Sachs disease, HEXA gene, β-hexosaminidase-A enzyme, HEXA mutation spectrum, Egyptian patients with TSD, Biochemical analysis of HexA-enzyme, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/07cc43a0964048de8ef292b358747207

المؤلفون: Monge, Estela C.¹ (AUTHOR), Gardner, Jeffrey G.¹ (AUTHOR) jgardner@umbc.edu

المصدر: Molecular Microbiology. Aug2021, Vol. 116 Issue 2, p366-380. 15p.

مصطلحات موضوعية: *HEXOSAMINIDASE, *CHITIN, *GLYCOSIDASES, *BACTERIAL genetics, *NITROGEN cycle, *SYSTEMS biology

Alternate Title: GM2 gangliosidozis: üç yeni mutasyonlu hastaların klinik, biyokimyasal ve genetik bulgularının değerlendirilmesi.

المؤلفون: Gürbüz, Berrak Bilginer¹ berrakgurbuz@yahoo.com.tr, Bulut, Fatma Derya¹, Uçar, Habibe Koç², Sarıgeçili, Esra², Sarıkepe, Bilge³, Yüreğir, Özge Özalp³

المصدر: Cukurova Medical Journal / Çukurova Üniversitesi Tip Fakültesi Dergisi. 2021, Vol. 46 Issue 3, p1201-1207. 7p.

مصطلحات موضوعية: *HEXOSAMINIDASE, *FILES (Records), *DEVELOPMENTAL delay, *DIAGNOSIS, *EARLY diagnosis

المؤلفون: Ritika, Joshi, Neelam^{1, 1}, Sharma, Neerja²

المصدر: 84(4):833-836