المؤلفون: Pritti Kumari, Krati Shah, Udhaya Kotecha, Lakshita Chauhan, Rohina Aggarwal

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Acid ceramidase deficiency, ASAH1, Farber disease, C.457+4A>G, Exome sequencing, Farber lipogranulomatosis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/14100ed7aa5d4eae90b4cc56b172119c

المؤلفون: Yadu Vijayan, Shirley James, Arun Viswanathan, Jayasekharan S Aparna, Anu Bindu, Narayanan N Namitha, Devasena Anantharaman, Manendra Babu Lankadasari, Kuzhuvelil B Harikumar

المصدر: Journal of Advanced Research, Vol 65, Iss , Pp 73-87 (2024)

مصطلحات موضوعية: Colorectal cancer, Acid ceramidase, LCL-521, Checkpoint inhibitor, Immunological cell death, T cells, Medicine (General), R5-920, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2090123223004034; https://doaj.org/toc/2090-1232

URL الوصول: https://doaj.org/article/0274c0ff37994f16b9fa25e23243d6ff

المؤلفون: Anne G. Ostermeyer-Fay, Abhay Kanodia, Ranjana Pathak, Maria Jose Hernandez-Corbacho, Aarnoud C. van der Spoel, Yusuf A. Hannun, Daniel Canals

المصدر: Journal of Lipid Research, Vol 66, Iss 1, Pp 100719- (2025)

مصطلحات موضوعية: neutral sphingomyelinase 2, acid sphingomyelinase, GBA2, sphingomyelin synthase 2, neutral ceramidase, acid ceramidase, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227524002244; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/82327d7cabfe4d3eacc4f14ab3ff4469

المؤلفون: Xiaojing Yin, Jinghe Shi, Daoqi Mei, Jianmei Guo, Tingting Ma, Yuna Gao, Li Wang, Jie Deng

المصدر: Heliyon, Vol 11, Iss 1, Pp e41032- (2025)

مصطلحات موضوعية: SMA-PME, ASAH1, Acid ceramidase, Epilepsy, Electroencephalography, Case report, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024170636; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/f0e36dc4918f4217a589acec6fec546d

المؤلفون: Ahangari, Najmeh, Arab, Fatemeh, Babaei, Meisam

المصدر: Iranian Journal of Child Neurology; Summer2024, Vol. 18 Issue 3, p131-135, 5p

مصطلحات موضوعية: GENE therapy, BENZODIAZEPINES, ELECTROENCEPHALOGRAPHY, GAIT disorders, MAGNETIC resonance imaging, TRANQUILIZING drugs, MUSCLE weakness, NEUROLOGICAL disorders, BIOINFORMATICS, ELECTROMYOGRAPHY, OCCUPATIONAL therapy, EPILEPSY, SEIZURES (Medicine), COGNITION disorders, ACID ceramidase, GENETIC mutation, MOLECULAR biology, SPINAL muscular atrophy, SYMPTOMS

المؤلفون: Putri Mandasari, Claudia Hollmann, Rehan-Haider Zaidi, Samira Löw, Jann Schrama, Dominik Wigger, Fabian Schumacher, Burkhard Kleuser, Niklas Beyersdorf

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: CD4+ T cell, acid ceramidase, cytokine secretion, inducible knockout mice, B cell survival, in vitro culture assay, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1309846/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/37b2a7f242774e8abceb030bf1d4fd91

المؤلفون: Mazen Aseeri, José Luis Abad, Antonio Delgado, Gemma Fabriàs, Gemma Triola, Josefina Casas

المصدر: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1, Pp 343-348 (2023)

مصطلحات موضوعية: Sphingolipids, ceramide, acid ceramidase, inhibitor, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

URL الوصول: https://doaj.org/article/156873fa613f4a8494cfb3580d846fcf

المؤلفون: Jonathan Cubitt, Mari Davies, Ross Riseley, Gabrielle Evans, Sian E. Gardiner, Benson M. Kariuki, Simon E. Ward, Emyr Lloyd-Evans, Helen Waller-Evans, D. Heulyn Jones

المصدر: Molecules, Vol 29, Iss 21, p 5143 (2024)

مصطلحات موضوعية: N-benzoyloxybenzamides, acid ceramidase, PAINS, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/29/21/5143; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/6b64ce8ede1847c1b1f1357524277e8d

المؤلفون: Lai, Michele, La Rocca, Veronica, Amato, Rachele, Freer, Giulia, Costa, Mario, Spezia, Pietro Giorgio, Quaranta, Paola, Lombardo, Giuseppe, Piomelli, Daniele, Pistello, Mauro

المصدر: International Journal of Molecular Sciences. 22(6)

مصطلحات موضوعية: Cancer, Aetiology, 2.1 Biological and endogenous factors, Acid Ceramidase, Apoptosis, Autophagy, Cell Line, Tumor, Fluorescent Antibody Technique, Gene Expression, Humans, Melanoma, Membrane Potential, Mitochondrial, Microphthalmia-Associated Transcription Factor, Mitochondria, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, acid ceramidase, adjuvant therapy, melanoma, autophagy, cancer biology, ceramides, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8t057527
https://escholarship.org/content/qt8t057527/qt8t057527.pdf

المؤلفون: Ung, Johnson, Tan, Su-Fern, Fox, Todd E., Shaw, Jeremy J. P., Taori, Maansi, Horton, Bethany J., Golla, Upendarrao, Sharma, Arati, Szulc, Zdzislaw M., Wang, Hong-Gang, Chalfant, Charles E., Cabot, Myles C., Claxton, David F., Loughran Jr., Thomas P., Feith, David J.

المصدر: Cancers; Dec2023, Vol. 15 Issue 24, p5866, 21p

مصطلحات موضوعية: THERAPEUTIC use of antineoplastic agents, IN vitro studies, CHELATION therapy, IRON, ACID ceramidase, APOPTOSIS, IRON in the body, CELL survival, TREATMENT effectiveness, TRANSFERASES, DESCRIPTIVE statistics, CELL lines, SPHINGOLIPIDS, CHEMICAL inhibitors

المؤلفون: Michael G. Katz, Yoav Hadas, Adam Vincek, Lina Freage-Kahn, Nataly Shtraizent, Jeko M. Madjarov, Peter Pastuszko, Efrat Eliyahu

المصدر: Respiratory Research, Vol 24, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Pulmonary arterial hypertension, Gene therapy, Sphingolipid metabolism, Adeno-associated virus, And acid ceramidase, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1465-993X

URL الوصول: https://doaj.org/article/c089eadfe9ec4261aa1a8ad213adbc62

المؤلفون: Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari

المصدر: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Acid ceramidase, SMA-PME, ASAH1 gene, Whole exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/acdfc6a1ee814fb1a74d431c0ea9d2ce

المؤلفون: Shamin, Maria

المساهمون: Deane, Janet

مصطلحات موضوعية: sphingolipids, saposins, CD1d, lipid presentation, sphingolipid degradation, galactosylceramidase, acid ceramidase

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.841339

المؤلفون: Vincent Zimmern, Berge Minassian

المصدر: Genes, Vol 15, Iss 2, p 171 (2024)

مصطلحات موضوعية: progressive myoclonic epilepsy, Unverricht-Lundborg disease, Lafora disease, acid ceramidase deficiency, myoclonic epilepsy with ragged red fibers, neuronal ceroid lipofuscinoses, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/2/171; https://doaj.org/toc/2073-4425; https://doaj.org/article/c2b3faffa97642f1a97832b8f690a6c1

الاتاحة: https://doi.org/10.3390/genes15020171
https://doaj.org/article/c2b3faffa97642f1a97832b8f690a6c1

المؤلفون: Mandasari, Putri, Hollmann, Claudia, Zaidi, Rehan-Haider, Löw, Samira, Schrama, Jann, Wigger, Dominik, Schumacher, Fabian, Kleuser, Burkhard, Beyersdorf, Niklas

مصطلحات موضوعية: CD4+ T cell, acid ceramidase, cytokine secretion, inducible knockout mice, B cell survival, in vitro culture assay, ddc:570

وصف الملف: 14 Seiten; application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/43976; http://dx.doi.org/10.17169/refubium-43685

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/43976
https://doi.org/10.17169/refubium-43685
https://doi.org/10.3389/fimmu.2024.1309846

المؤلفون: Lai, Michele, Amato, Rachele, La Rocca, Veronica, Bilgin, Mesut, Freer, Giulia, Spezia, Piergiorgio, Quaranta, Paola, Piomelli, Daniele, Pistello, Mauro

المصدر: Scientific Reports. 11(1)

مصطلحات موضوعية: Cancer, Acid Ceramidase, Antineoplastic Agents, Apoptosis, Autophagy, Cell Line, Tumor, Ceramides, Doxorubicin, Humans, Melanoma

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67b7g2q3
https://escholarship.org/content/qt67b7g2q3/qt67b7g2q3.pdf

المؤلفون: Alsamman, Sarah, Christenson, Stephanie A, Yu, Amy, Ayad, Nadia ME, Mooring, Meghan S, Segal, Joe M, Hu, Jimmy Kuang-Hsien, Schaub, Johanna R, Ho, Steve S, Rao, Vikram, Marlow, Megan M, Turner, Scott M, Sedki, Mai, Pantano, Lorena, Ghoshal, Sarani, Ferreira, Diego Dos Santos, Ma, Hsiao-Yen, Duwaerts, Caroline C, Espanol-Suner, Regina, Wei, Lan, Newcomb, Benjamin, Mileva, Izolda, Canals, Daniel, Hannun, Yusuf A, Chung, Raymond T, Mattis, Aras N, Fuchs, Bryan C, Tager, Andrew M, Yimlamai, Dean, Weaver, Valerie M, Mullen, Alan C, Sheppard, Dean, Chen, Jennifer Y

المصدر: Science Translational Medicine. 12(557)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, 2.1 Biological and endogenous factors, Acid Ceramidase, Adaptor Proteins, Signal Transducing, Animals, Fibrosis, Hepatic Stellate Cells, Humans, Mice, Signal Transduction, Biological Sciences, Medical and Health Sciences, Medical biotechnology, Biomedical engineering

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2630p7qz
https://escholarship.org/content/qt2630p7qz/qt2630p7qz.pdf

المؤلفون: Qi Q, Xu J, Wang Y, Zhang J, Gao M, Li Y, Dong L

المصدر: Infection and Drug Resistance, Vol Volume 16, Pp 2573-2588 (2023)

مصطلحات موضوعية: metabolomics, bronchiectasis, sphingosine, pseudomonas aeruginosa, acid ceramidase, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://www.dovepress.com/decreased-sphingosine-due-to-down-regulation-of-acid-ceramidase-expres-peer-reviewed-fulltext-article-IDR; https://doaj.org/toc/1178-6973

URL الوصول: https://doaj.org/article/a404d6c06e344b399f8f26b48a31e5ac

المؤلفون: Najafi, Ali, Tasharrofi, Behnoosh, Zandsalimi, Farshid, Rasulinezhad, Maryam, Ghahvechi Akbari, Masood, Zamani, Gholamreza, Ashrafi, Mahmoud Reza, Heidari, Morteza

المصدر: Italian Journal of Pediatrics; 6/6/2023, Vol. 49 Issue 1, p1-8, 8p

مصطلحات موضوعية: GENETICS of epilepsy, SPINAL muscular atrophy, GENETIC mutation, SEQUENCE analysis, EPILEPSY, ALLELES, GENETIC variation, ACID ceramidase, CASE studies, MOLECULAR structure, RARE diseases

المؤلفون: Frésard, Laure, Smail, Craig, Ferraro, Nicole M, Teran, Nicole A, Li, Xin, Smith, Kevin S, Bonner, Devon, Kernohan, Kristin D, Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R, Liu, Boxiang, Prybol, Cameron J, Kohler, Jennefer N, Zastrow, Diane B, Reuter, Chloe M, Fisk, Dianna G, Grove, Megan E, Davidson, Jean M, Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J, Utiramerur, Sowmithri, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A, Ashley, Euan A, Boycott, Kym M, Merker, Jason D, Wheeler, Matthew T, Montgomery, Stephen B

المصدر: Nature medicine. 25(6)

مصطلحات موضوعية: Undiagnosed Diseases Network, Care4Rare Canada Consortium, Humans, Rare Diseases, Oxidoreductases Acting on CH-CH Group Donors, Potassium Channels, RNA, Case-Control Studies, Cohort Studies, Sequence Analysis, RNA, RNA Splicing, Mutation, Models, Genetic, Child, Child, Preschool, Female, Male, Genetic Variation, Acid Ceramidase, Whole Exome Sequencing, Human Genome, Clinical Research, Genetics, Biotechnology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Immunology, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4gq9c79v