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

المصدر: J Extracell Vesicles ; ISSN:2001-3078 ; Volume:13 ; Issue:7

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

العلاقة: https://doi.org/10.1002/jev2.12468Test; https://pubmed.ncbi.nlm.nih.gov/38944674Test

الإتاحة: https://doi.org/10.1002/jev2.12468Test
https://pubmed.ncbi.nlm.nih.gov/38944674Test

المؤلفون: Ruz, Clara, Barrero, Francisco J, Pelegrina, Javier, Bandrés-Ciga, Sara, Vives, Francisco, Duran, Raquel

مصطلحات موضوعية: Cathepsin D, PSAP, Parkinson’s disease, lysosomal dysfunction, β-glucocerebrosidase, Glucosylceramidase, Hexosaminidase B, Humans, Lysosomes, Mutation, Parkinson Disease, Saposins, alpha-Synuclein, beta-Galactosidase, beta-N-Acetylhexosaminidases

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/21204Test; PMC9569857; https://www.mdpi.com/1422-0067/23/19/12004/pdf?version=1665312476Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569857/pdfTest

الإتاحة: https://doi.org/10.3390/ijms231912004Test
http://hdl.handle.net/10668/21204Test
https://www.mdpi.com/1422-0067/23/19/12004/pdf?version=1665312476Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569857/pdfTest

المؤلفون: Julian Ugonotti, Rebeca Kawahara, Ian Loke, Yuqi Zhu, Sayantani Chatterjee, Harry C Tjondro, Zeynep Sumer-Bayraktar, Sriram Neelamegham, Morten Thaysen-Andersen

المصدر: Glycobiology

مصطلحات موضوعية: carbohydrates (lipids), Hexosaminidase A, Hexosaminidases, Hexosaminidase B, integumentary system, Neutrophils, Analytical Glycobiology, Humans, Biochemistry, beta-N-Acetylhexosaminidases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b27c611d490faff85f75e1556d8be36cTest
https://doi.org/10.1093/glycob/cwab108Test

المؤلفون: Clara Ruz, Francisco J. Barrero, Javier Pelegrina, Sara Bandrés-Ciga, Francisco Vives, Raquel Duran

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 12004

مصطلحات موضوعية: β-glucocerebrosidase, Beta-glucocerebrosidase, PSAP, Cathepsin D, Catalysis, Saposins, Inorganic Chemistry, Lysosomal dysfunction, Hexosaminidase B, Humans, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Organic Chemistry, Parkinson Disease, General Medicine, beta-Galactosidase, beta-N-Acetylhexosaminidases, Computer Science Applications, Mutation, alpha-Synuclein, Parkinson’s disease, Glucosylceramidase, Lysosomes, lysosomal dysfunction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01483d01039bd9da64a45e1881b3b83fTest
https://hdl.handle.net/10481/77723Test

المؤلفون: Haixia, Zhu, Wenlin, Wu, Wenxiong, Chen, Yiru, Zeng, Yuan, Zhao, Xiuying, Wang, Xiaojing, Li

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(10)

مصطلحات موضوعية: Male, Hexosaminidase A, Hexosaminidase B, Eosinophilia, Mutation, Humans, Female, Sandhoff Disease, Genetic Testing, Child, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::623d5ce0907a6d9ab1719737372ba614Test
https://pubmed.ncbi.nlm.nih.gov/36184097Test

المؤلفون: Duangrurdee Wattanasirichaigoon, Natini Jinawath, Tassanee Lerksuthirat, Nithiwat Vatanavicharn, Nusara Satproedprai, Arthaporn Kongkrapan, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Bhoom Suktitipat, Thipwimol Tim-Aroon, Surakameth Mahasirimongkol, Kanya Moolsuwan, Jakris Eu-ahsunthornwattana, Khunton Wichajarn, Supranee Thongpradit, Kullasate Sakpichaisakul

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
BMC Pediatrics

مصطلحات موضوعية: 0301 basic medicine, HEXB, beta-Hexosaminidase beta Chain, Tay-Sachs disease, Sandhoff disease, Carrier testing, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Hexosaminidase B, GM2 gangliosidosis, medicine, Humans, Allele, Genetics, Mutation, business.industry, Developmental regression, Neurometabolic disorder, lcsh:RJ1-570, lcsh:Pediatrics, Thailand, medicine.disease, 030104 developmental biology, Protein destabilization, Child, Preschool, Pediatrics, Perinatology and Child Health, Thai, business, 030217 neurology & neurosurgery, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8d103f1855baeb62aecf039e196f7dTest
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699eTest

المؤلفون: Jing Liao, Yan An, Xinliu Gao, Michael Swanson, Kirby Martinez-Fonts, Fengqiang Wang, Li Xiao, Vibha Jawa, Jorge Alexander Pavon, Simon Letarte, Douglas D. Richardson, Edward C. Sherer, Xuanwen Li

المصدر: Biotechnology Progress

مصطلحات موضوعية: Proteomics, 0106 biological sciences, Glycan, medicine.drug_class, In silico, CHO Cells, Monoclonal antibody, LC–MS, 01 natural sciences, Mass Spectrometry, RESEARCH ARTICLES, hexosaminidase B, Cricetulus, Polysaccharides, Liquid chromatography–mass spectrometry, Cricetinae, 010608 biotechnology, medicine, Animals, Bioprocess, N‐glycan, biology, Protein Stability, Chemistry, 010401 analytical chemistry, Antibodies, Monoclonal, Hexosaminidase B, Recombinant Proteins, 0104 chemical sciences, HEXB, Bioseparations and Downstream Processing, host cell protein, Biochemistry, monoclonal antibody, biology.protein, Research Article, Chromatography, Liquid, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb6f7d6bd798e79aaa24c0e36af4654Test
https://doi.org/10.1002/btpr.3128Test

المؤلفون: Min Liu, Danping Huang, Xuqin Chen, Wang Qi, Hongying Wang, Lei Zhao

المصدر: Journal of Molecular Neuroscience. 70:481-487

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Fundus Oculi, Genetic counseling, beta-Hexosaminidase beta Chain, Sandhoff disease, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Protein Domains, Molecular genetics, medicine, Humans, Hexosaminidase, Exome sequencing, Genetics, Brain, Infant, Sandhoff Disease, General Medicine, Cherry-red spot, medicine.disease, Hexosaminidase B, HEXB, 030104 developmental biology, Mutation, Female, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fa6579351f147edf10891c23bd7c36Test
https://doi.org/10.1007/s12031-019-01409-6Test

المؤلفون: Alejandro Rubio, José L. Quiles, Antonio J. Pérez-Pulido, Beatriz Fernández-Domínguez, Beatriz Castejón-Vega, Elísabet Alcocer-Gómez, Jon D. Lane, Carmen Martin-Ruiz, Maria Begoña Cachón-González, Alberto Sanz, Mario D. Cordero, Timothy M. Cox

المساهمون: Rubio, Alejandro [0000-0002-6736-6141], Quiles, José L [0000-0002-9048-9086], Martín-Ruiz, Carmen [0000-0002-3361-6974], Cox, Timothy [0000-0002-4951-9941], Cordero, Mario D [0000-0003-0151-3644], Apollo - University of Cambridge Repository, Biotechnology and Biological Sciences Research Council (UK), National Institute for Health Research (UK), Cambridge Biomedical Research Centre, Quiles, José L. [0000-0002-9048-9086], Cox, Timothy M. [0000-0002-4951-9941], Cordero, Mario D. [0000-0003-0151-3644], Cox, Timothy M [0000-0002-4951-9941]

المصدر: Cells
Volume 10
Issue 11
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digibug. Repositorio Institucional de la Universidad de Granada
Castejon Vega, B, Rubio, A, Perez-Pulido, A, Quiles, J, Lane, J D, Fernandez-Dominguez, B, Cachon-Gonzales, M, Martin-Ruiz, C, Sanz, A, Cox, T, Alcocer-Gomez, E & Cordero, M 2021, ' L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation ', Cells, vol. 10, no. 11, 3122 . https://doi.org/10.3390/cells10113122Test
Cells, Vol 10, Iss 3122, p 3122 (2021)

مصطلحات موضوعية: QH301-705.5, L-arginine, Gangliosidosis, Arginine, Permeability, Article, Hexosaminidase A, Hexosaminidase B, Gangliosidoses, GM2, Lysosome, GM2 gangliosidosis, medicine, Autophagy, Humans, Biology (General), PI3K/AKT/mTOR pathway, Cathepsin, Ganglioside, Tay-Sachs Disease, GM2 gangliosidoses, Chemistry, TOR Serine-Threonine Kinases, Autophagosomes, Sandhoff Disease, General Medicine, Fibroblasts, HEXA, medicine.disease, Cathepsins, Cell biology, medicine.anatomical_structure, Mutation, mTOR, Lysosomes, Transcriptome, Proto-Oncogene Proteins c-akt, Signal Transduction

وصف الملف: application/pdf; application/zip; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23aa2a1f3f1a3fa6642540dc57aa082cTest
http://hdl.handle.net/10481/71460Test

المؤلفون: Xuanwen Li, Xinliu Gao, Douglas D. Richardson, Kirby Martinez-Fonts, Michael Swanson, Edward C. Sherer, Jorge Alexander Pavon, Yan An, Jing Liao, Li Xiao, Vibha Jawa, Simon Letarte

مصطلحات موضوعية: Glycan, biology, Chemistry, In silico, Selected reaction monitoring, Proteomics, Hexosaminidase B, HEXB, law.invention, Biochemistry, law, Recombinant DNA, biology.protein, Bioprocess

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::00ca2cb7089cd2322274176145c66ba5Test
https://doi.org/10.1101/2020.09.17.302679Test