المؤلفون: Pyeon, Dohun, Rojas, Vivian K., Price, Lenore, Kim, Seongcheol, Singh, Meharvan, Park, In-Woo

المصدر: Viruses

مصطلحات موضوعية: metabolism, HIV-1 Nef, ube3a (e6ap), proteasomal degradation, ubiquitin, ubiquitin proteasome system, HIV Infections / virology, HIV-1 / physiology, Humans, Proteasome Endopeptidase Complex, Proteolysis, Ubiquitin / metabolism, Ubiquitin-Protein Ligases / genetics, Ubiquitin-Protein Ligases / metabolism, Ubiquitination, nef Gene Products, Human Immunodeficiency Virus / genetics, Human Immunodeficiency Virus / metabolism

وصف الملف: application/pdf

العلاقة: https://doi.org/10.3390/v11121098Test; Pyeon, D., Rojas, V. K., Price, L., Kim, S., Meharvan, S., & Park, I. W. (2019). HIV-1 Impairment via UBE3A and HIV-1 Nef Interactions Utilizing the Ubiquitin Proteasome System. Viruses, 11(12), 1098. https://doi.org/10.3390/v11121098Test; https://hdl.handle.net/20.500.12503/31923Test; 11; 12

الإتاحة: https://doi.org/20.500.12503/31923Test
https://doi.org/10.3390/v11121098Test
https://hdl.handle.net/20.500.12503/31923Test

المؤلفون: Al-Qusairi, L., Basquin, D., Stifanelli, M., Welling, P.A., Staub, O.

المصدر: Physiological reports, vol. 10, no. 4, pp. e15188

مصطلحات موضوعية: Aldosterone, Animals, Epithelial Sodium Channels/genetics, Mice, Nedd4 Ubiquitin Protein Ligases/genetics, Potassium/metabolism, Sodium/metabolism, Sodium Chloride, Dietary/metabolism, Solute Carrier Family 12, Member 3/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35224872; info:eu-repo/semantics/altIdentifier/eissn/2051-817X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_90DE4FDA5B157; https://serval.unil.ch/notice/serval:BIB_90DE4FDA5B15Test; urn:issn:2051-817X; https://serval.unil.ch/resource/serval:BIB_90DE4FDA5B15.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_90DE4FDA5B157Test

الإتاحة: https://doi.org/10.14814/phy2.15188Test
https://serval.unil.ch/notice/serval:BIB_90DE4FDA5B15Test
https://serval.unil.ch/resource/serval:BIB_90DE4FDA5B15.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_90DE4FDA5B157Test

المؤلفون: Lu, Yalan, Huang, Rong, Ying, Jianming, Li, Xingchen, Jiao, Tao, Guo, Lei, Zhou, Haitao, Wang, Han, Tuersuntuoheti, Amannisa, Liu, Jianmei, Chen, Qichen, Wang, Yanhong, Su, Luying, Guo, Changyuan, Xu, Fu, Wang, Ziyi, Lu, Yan, Li, Kai, Liang, Junbo, Huang, Zhen, Chen, Xiao, Yao, Jinjie, Hu, Hanjie, Cheng, Xiaowen, Wan, Yufeng, Chen, Xinyan, Zhang, Ning, Miao, Shiying, Cai, Jianqiang, Wang, Linfang, Liu, Changzheng, Song, Wei, Zhao, Hong

المصدر: Lu , Y , Huang , R , Ying , J , Li , X , Jiao , T , Guo , L , Zhou , H , Wang , H , Tuersuntuoheti , A , Liu , J , Chen , Q , Wang , Y , Su , L , Guo , C , Xu , F , Wang , Z , Lu , Y , Li , K , Liang , J , Huang , Z , Chen , X , Yao , J , Hu , H , Cheng , X , Wan , Y ....

مصطلحات موضوعية: Animals, Cell Transformation, Neoplastic, Colitis/genetics, Humans, Mice, NF-kappa B/genetics, Signal Transduction/genetics, Ubiquitin-Protein Ligases/genetics, Ubiquitins, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/1300/1306, name=Cancer Research

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/6db478a0-1c9d-4806-9da3-ebed8d0d0938Test

الإتاحة: https://doi.org/10.1038/s41392-022-00985-1Test
https://discovery.dundee.ac.uk/en/publications/6db478a0-1c9d-4806-9da3-ebed8d0d0938Test
https://discovery.dundee.ac.uk/ws/files/75286070/s41392_022_00985_1.pdfTest
http://www.scopus.com/inward/record.url?scp=85131810748&partnerID=8YFLogxKTest

المؤلفون: TUDP Study Group, Broad Center for Mendelian Genomics

المساهمون: Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Landspitali - The National University Hospital of Iceland

مصطلحات موضوعية: Lífefna- og sameindalíffræði, brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issues, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment, Proteasome Endopeptidase Complex/metabolism, Humans, Germ Cells, Ubiquitination, Germ-Line Mutation, F-Box-WD Repeat-Containing Protein 7/chemistry, Ubiquitin-Protein Ligases/genetics, Neurodevelopmental Disorders/genetics, Genetics (clinical), Genetics

وصف الملف: 601-617

العلاقة: American Journal of Human Genetics; 109(4); http://www.scopus.com/inward/record.url?scp=85127470624&partnerID=8YFLogxKTest; TUDP Study Group & Broad Center for Mendelian Genomics 2022 , ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ' , American Journal of Human Genetics , vol. 109 , no. 4 , pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002Test; de8a2159-1661-44de-bd54-a0566a5aaa4f; 85127470624; unpaywall: 10.1016/j.ajhg.2022.03.002; https://hdl.handle.net/20.500.11815/4105Test

الإتاحة: https://doi.org/20.500.11815/4105Test
https://doi.org/10.1016/j.ajhg.2022.03.002Test
https://hdl.handle.net/20.500.11815/4105Test

المؤلفون: Harmuth, Tina, Weber, Jonasz J., Zimmer, Anna J., Sowa, Anna S., Schmidt, Jana, Fitzgerald, Julia, Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette

المصدر: International journal of molecular sciences 23(11), 5933 (2022). doi:10.3390/ijms23115933 special issue: "Mitochondrial Function in Neurodegenerative Diseases"

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Ataxin-3: genetics, Ataxin-3: metabolism, Humans, Machado-Joseph Disease: genetics, Machado-Joseph Disease: metabolism, Mitochondria: genetics, Mitochondria: metabolism, Ubiquitin-Protein Ligases: genetics, Ubiquitin-Protein Ligases: metabolism, Voltage-Dependent Anion Channel 1: genetics, Voltage-Dependent Anion Channel 1: metabolism

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35682609; info:eu-repo/semantics/altIdentifier/issn/1422-0067; info:eu-repo/semantics/altIdentifier/issn/1661-6596; https://pub.dzne.de/record/164670Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01200%22Test

الإتاحة: https://doi.org/10.3390/ijms23115933Test
https://pub.dzne.de/record/164670Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01200%22Test

المؤلفون: Suwala, Abigail K., Stichel, Damian, Schrimpf, Daniel, Maas, Sybren L. N., Sill, Martin, Dohmen, Hildegard, Banan, Rouzbeh, Reinhardt, Annekathrin, Sievers, Philipp, Hinz, Felix, Blattner-Johnson, Mirjam, Hartmann, Christian, Schweizer, Leonille, Boldt, Henning B., Kristensen, Bjarne Winther, Schittenhelm, Jens, Wood, Matthew D., Chotard, Guillaume, Bjergvig, Rolf, Das, Anirban, Tabori, Uri, Hasselblatt, Martin, Korshunov, Andrey, Abdullaev, Zied, Quezado, Martha, Aldape, Kenneth, Harter, Patrick N., Snuderl, Matija, Hench, Jürgen, Frank, Stephan, Acker, Till, Brandner, Sebastian, Winkler, Frank, Wesseling, Pieter, Pfister, Stefan M., Reuss, David E., Wick, Wolfgang, von Deimling, Andreas, Jones, David T. W., Sahm, Felix

المصدر: http://lobid.org/resources/99370675016306441Test#!, 142(1):179-189.

مصطلحات موضوعية: Ubiquitin-Protein Ligases/genetics [MeSH], Glial Fibrillary Acidic Protein/biosynthesis [MeSH], Glioblastoma/pathology [MeSH], Cohort Studies [MeSH], Neuroectodermal Tumors, Primitive/genetics [MeSH], Male [MeSH], DNA methylation, Retinoblastoma Binding Proteins/genetics [MeSH], Glioblastoma/genetics [MeSH], Gene Deletion [MeSH], Female [MeSH], Primitive/pathology [MeSH], Phenotype, Brain Neoplasms/genetics [MeSH], GBM, Classification, Humans [MeSH], PTEN Phosphohydrolase/genetics [MeSH], Chromosomes, Human, Pair 7/genetics [MeSH], Middle Aged [MeSH], Glial Fibrillary Acidic Protein/genetics [MeSH], PNET, Tumor Suppressor Protein p53/genetics [MeSH], Cyclin-Dependent Kinase Inhibitor p16/genetics [MeSH], DNA Copy Number Variations [MeSH], DNA Methylation [MeSH], Plasticity

العلاقة: https://repository.publisso.de/resource/frl:6450722Test; https://doi.org/10.1007/s00401-021-02302-6Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217054Test/

الإتاحة: https://doi.org/10.1007/s00401-021-02302-6Test
https://repository.publisso.de/resource/frl:6450722Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217054Test/

المؤلفون: Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis

المصدر: http://lobid.org/resources/99370671259506441Test#!, 268(10):3845-3851.

مصطلحات موضوعية: SCA48, Ataxia, Dominant, Adult [MeSH], Humans [MeSH], Ataxia/genetics [MeSH], Spinocerebellar Ataxias [MeSH], Ubiquitin-Protein Ligases/genetics [MeSH], Cerebellar Ataxia [MeSH], CHIP, Pedigree [MeSH], STUB1, Phenotype [MeSH], Early-onset ataxia, Original Communication

العلاقة: https://repository.publisso.de/resource/frl:6450270Test; https://doi.org/10.1007/s00415-021-10524-7Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406Test/

الإتاحة: https://doi.org/10.1007/s00415-021-10524-7Test
https://repository.publisso.de/resource/frl:6450270Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406Test/

المؤلفون: Mertens, R., Graupera, M., Gerhardt, H., Bersano, A., Tournier-Lasserve, E., Mensah, M. A., Mundlos, S., Vajkoczy, Peter

المصدر: http://lobid.org/resources/99370675589506441Test#!, 13(1):25-45.

مصطلحات موضوعية: Stroke, Adenosine Triphosphatases/genetics [MeSH], Genetics, Humans [MeSH], RNF 213, Review Article, Moyamoya Disease/genetics [MeSH], Moyamoya disease, Ubiquitin-Protein Ligases/genetics [MeSH], 17q25, Genetic Predisposition to Disease/genetics [MeSH], Moyamoya Disease/diagnostic imaging [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6444154Test; https://doi.org/10.1007/s12975-021-00940-2Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8766392Test/

الإتاحة: https://doi.org/10.1007/s12975-021-00940-2Test
https://repository.publisso.de/resource/frl:6444154Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8766392Test/

المؤلفون: Bawankar, P., Lence, T., Paolantoni, C., Haussmann, I.U., Kazlauskiene, M., Jacob, D., Heidelberger, J.B., Richter, F.M., Nallasivan, M.P., Morin, V., Kreim, N., Beli, P., Helm, M., Jinek, M., Soller, M., Roignant, J.Y.

المصدر: Nature communications, vol. 12, no. 1, pp. 3778

مصطلحات موضوعية: Adenosine/analogs & derivatives, Adenosine/metabolism, Animals, Cell Line, Drosophila Proteins/genetics, Drosophila Proteins/metabolism, Drosophila melanogaster, HeLa Cells, Humans, Methylation, Methyltransferases/genetics, Methyltransferases/metabolism, RNA Processing, Post-Transcriptional/genetics, RNA Splicing/genetics, RNA, Messenger/genetics, Ubiquitin-Protein Ligases/genetics, Ubiquitin-Protein Ligases/metabolism

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145251; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/grantAgreement/FOUNDATION_LEVERHULME_TRUST/////; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C0C803938C715; https://serval.unil.ch/notice/serval:BIB_C0C803938C71Test; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_C0C803938C71.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C0C803938C715Test

الإتاحة: https://doi.org/10.1038/s41467-021-23892-5Test
https://serval.unil.ch/notice/serval:BIB_C0C803938C71Test
https://serval.unil.ch/resource/serval:BIB_C0C803938C71.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C0C803938C715Test

المؤلفون: Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B

المصدر: Genetics in medicine 23(6), 1171 - 1172 (2021). doi:10.1038/s41436-021-01104-1

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia, Cerebellar Ataxia: genetics, Cognitive Dysfunction: genetics, Humans, Nervous System Diseases, Ubiquitin-Protein Ligases: genetics, STUB1 protein, human, Ubiquitin-Protein Ligases

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1530-0366; info:eu-repo/semantics/altIdentifier/issn/1098-3600; info:eu-repo/semantics/altIdentifier/pmid/pmid:33564152; https://pub.dzne.de/record/157706Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-01163%22Test

الإتاحة: https://doi.org/10.1038/s41436-021-01104-1Test
https://pub.dzne.de/record/157706Test
https://pub.dzne.de/search?p=id:%22DZNE-2021-01163%22Test