المؤلفون: Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma, Béatrice Desnous, Victor Chan, Emilien Delmont, Shahram Attarian, Raul Juntas Morales, Isabelle Quadrio, Léo Vidoni, Nathalie Bonello-Palot, David Cheillan

المصدر: Genes, Vol 15, Iss 6, p 692 (2024)

مصطلحات موضوعية: sphingolipids, hereditary neuropathy, SPTLC1, molecular genetics, in silico tools, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/6/692; https://doaj.org/toc/2073-4425; https://doaj.org/article/fa465a34f426489c99bcff22f97719f9

الاتاحة: https://doi.org/10.3390/genes15060692
https://doaj.org/article/fa465a34f426489c99bcff22f97719f9

المؤلفون: Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Rare variant, SPTLC1, SPTLC2, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/66c0b1fdf29e423e845e62bbdc2cd24e

المؤلفون: GenYi Qu, Guang Yang, Dan Chen, Cheng Tang, Yong Xu

المصدر: Translational Oncology, Vol 34, Iss , Pp 101699- (2023)

مصطلحات موضوعية: E2F2, Renal cell carcinoma, miR-16–5p, SPTLC1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1936523323000852; https://doaj.org/toc/1936-5233

URL الوصول: https://doaj.org/article/00f22c0234154c8aa6d51f231b9cc520

المؤلفون: Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller

المصدر: Genes; Volume 14; Issue 4; Pages: 931

مصطلحات موضوعية: macular telangiectasia type 2 (MacTel2), serine palmitoyltransferase complex 1 (SPTLC1), serine palmitoyltransferase complex 2 (SPTLC2), hereditary sensory and autonomic neuropathy type 1 (HSAN1), ceramides, sphingolipids, deoxyceramides

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14040931

الاتاحة: https://doi.org/10.3390/genes14040931

المؤلفون: Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

المصدر: Case Reports in Neurology, Pp 1-1 (2023)

مصطلحات موضوعية: juvenile amyotrophic lateral sclerosis, sptlc1, neuromuscular, case report, Neurology. Diseases of the nervous system, RC346-429

Relation: https://beta.karger.com/Article/FullText/530974; https://doaj.org/toc/1662-680X; https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929e

الاتاحة: https://doi.org/10.1159/000530974
https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929e

المؤلفون: Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D, Dunn, Teresa M, Bönnemann, Carsten G, Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria

المساهمون: Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D, Dunn, Teresa M, Bönnemann, Carsten G, Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria

مصطلحات موضوعية: HSAN, S331, SPTLC1, l-serine, motor neuron, sphingolipids

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35904184; info:eu-repo/semantics/altIdentifier/wos/WOS:000837979900001; volume:29; firstpage:1; lastpage:15; numberofpages:15; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; https://hdl.handle.net/11567/1094373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135812739

الاتاحة: https://hdl.handle.net/11567/1094373
https://doi.org/10.1111/nan.12842

المؤلفون: Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas

مصطلحات موضوعية: ScholarlyArticle, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum, SPTLC1 -- juvenile ALS -- HSAN1A -- proteomic profiling -- serine palmitoyltransferase

Relation: https://doi.org/10.3390/genes13050893; https://nbn-resolving.org/urn:nbn:de:hbz:465-20220902-123045-5; https://duepublico2.uni-due.de/receive/duepublico_mods_00076605; https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00076337/genes_2022-13-00893.pdf

الاتاحة: https://doi.org/10.3390/genes13050893
https://nbn-resolving.org/urn:nbn:de:hbz:465-20220902-123045-5
https://duepublico2.uni-due.de/receive/duepublico_mods_00076605
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00076337/genes_2022-13-00893.pdf

المؤلفون: Kramarz, Caroline, Rossor, Alexander M

المصدر: Journal of Neurology , 269 (9) pp. 5187-5191. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Charcot-Marie-tooth disease, SORD-associated CMT, PMP22 gene silencing, SPTLC1-associated HSN1, ATTR amyloidosis, SENSORY NEUROPATHY, SPTLC1, MODEL

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10177111/1/Neurological%20update%20hereditary%20neuropathies.pdf; https://discovery.ucl.ac.uk/id/eprint/10177111/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10177111/1/Neurological%20update%20hereditary%20neuropathies.pdf
https://discovery.ucl.ac.uk/id/eprint/10177111/

المؤلفون: Gomes Rodrigues, Filipa, Pipis, Menelaos, Heeren, Tjebo FC, Fruttiger, Marcus, Gantner, Mari, Vermeirsch, Sandra, Okada, Mali, Friedlander, Martin, Reilly, Mary M, Egan, Catherine

المصدر: Journal of the Peripheral Nervous System , 27 (3) pp. 215-224. (2022)

مصطلحات موضوعية: HSAN 1, Hereditary Sensory and Autonomic Neuropathies, Macular telangiectasia type 2, SPTLC1 protein, SPTLC2 protein

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10152829/1/J%20Peripheral%20Nervous%20Sys%20-%202022%20-%20Gomes%20Rodrigues.pdf; https://discovery.ucl.ac.uk/id/eprint/10152829/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10152829/1/J%20Peripheral%20Nervous%20Sys%20-%202022%20-%20Gomes%20Rodrigues.pdf
https://discovery.ucl.ac.uk/id/eprint/10152829/

المؤلفون: Johnson, Janel O., Chia, Ruth, Brown, Robert H. Jr., Landers, John E

المساهمون: Department of Neurology

المصدر: bioRxiv

مصطلحات موضوعية: Genetics, mutations, amyotrophic lateral sclerosis, serine palmitoyltransferase, biosynthesis, hereditary sensory autonomic neuropathy, type 1A, SPTLC1, Amino Acids, Peptides, and Proteins, Enzymes and Coenzymes, Genetic Phenomena, Nervous System, Nervous System Diseases, Neuroscience and Neurobiology

Relation: bioRxiv 770339; doi: https://doi.org/10.1101/770339. Link to preprint on bioRxiv service.; http://hdl.handle.net/20.500.14038/29396; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=2641&context=faculty_pubs&unstamped=1; https://escholarship.umassmed.edu/faculty_pubs/1626; faculty_pubs/1626

الاتاحة: https://doi.org/10.1101/770339
https://hdl.handle.net/20.500.14038/29396
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=2641&context=faculty_pubs&unstamped=1
https://escholarship.umassmed.edu/faculty_pubs/1626

المؤلفون: Clark, AJ, Kugathasan, U, Baskozos, G, Priestman, DA, Fugger, N, Lone, MA, Othman, A, Chu, KH, Blesneac, I, Wilson, ER, Laurà, M, Kalmar, B, Greensmith, L, Hornemann, T, Platt, FM, Reilly, MM, Bennett, DL

المصدر: Cell Reports Medicine , 2 (7) , Article 10034. (2021)

مصطلحات موضوعية: hereditary sensory neuropathy type 1, HSN1, serine palmitoyltransferase, SPT, serine palmitoyltransferase long-chain base subunit 1, SPTLC1, 1-deoxySLBs, DSBs, sphingolipid, ganglioside, sensory neuron, myelin, axon, l-serine

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10132384/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10132384/

المؤلفون: Junling Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lei Liu, Siwei Huang, Zhiqiang Lin, Huadong Zhao, Binghao Wang, Ruxu Zhang, Mengli Wang, Hong Jiang, Bei-Sha Tang, Xiaobo Li, Xiying Zhu, Shunxiang Huang, Lu Li, Honglan Yang, Lu Shen, Stephan Züchner, Sen Zeng, Yongzhi Xie

المصدر: European Journal of Neurology. 28:3774-3783

مصطلحات موضوعية: China, medicine.medical_specialty, Genotype, business.industry, medicine.disease, DNA-Binding Proteins, Phenotype, Genotype-phenotype distinction, Neurology, Charcot-Marie-Tooth Disease, Internal medicine, SH3TC2, Gene duplication, Hereditary sensory and autonomic neuropathy, Humans, Medicine, Missense mutation, Neurology (clinical), SPTLC1, Apoptosis Regulatory Proteins, business, Exome sequencing, Adaptor Proteins, Signal Transducing, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d15321796ba2c51eb2f8e35475565a
https://doi.org/10.1111/ene.15024

المؤلفون: Philippe Corcia, Julien Cassereau, Pascal Reynier

المصدر: Trends in Endocrinology & Metabolism. 32:839-841

مصطلحات موضوعية: Sphingolipids, Messenger RNA, business.industry, Endocrinology, Diabetes and Metabolism, Amyotrophic Lateral Sclerosis, Mutant allele, medicine.disease, Sphingolipid biosynthesis, Sphingolipid, Endocrinology, Hereditary sensory and autonomic neuropathy, SPTLC1 Gene, Cancer research, Humans, Medicine, Personalized medicine, Hereditary Sensory and Autonomic Neuropathies, Precision Medicine, Amyotrophic lateral sclerosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5368db4d213faf0938ed412baa052f0
https://doi.org/10.1016/j.tem.2021.07.002

المؤلفون: Hongtu Zhao, Alexander G. Myasnikov, Teresa M. Dunn, Sita D. Gupta, Chia-Hsueh Lee, Gongshe Han, Niranjanakumari Somashekarappa, Ravi C. Kalathur, Zhe Zhang, Kenneth Gable, Yingdi Wang, Yiming Niu

المصدر: Nat Struct Mol Biol

مصطلحات موضوعية: Models, Molecular, Membrane lipids, Serine C-Palmitoyltransferase, Ligands, Biochemistry, Article, Substrate Specificity, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Catalytic Domain, Genetics, Humans, SPTLC1, Molecular Biology, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Binding Sites, Chemistry, Cryoelectron Microscopy, Serine C-palmitoyltransferase, Membrane Proteins, Reproducibility of Results, Substrate (chemistry), Sphingolipid, Cell biology, Enzyme, Membrane, Mutation, Biocatalysis, 030217 neurology & neurosurgery, Biogenesis, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6aa8280079fca6d3e0812eeccb5460
https://doi.org/10.1038/s41594-020-00551-9

المؤلفون: Peng Liu, Xin Gong, Tian Xie, Sisi Li, Lei Wang

المصدر: Nature Structural & Molecular Biology. 28:249-257

مصطلحات موضوعية: 0303 health sciences, Cell signaling, Stereochemistry, Membrane lipids, Serine C-palmitoyltransferase, Substrate (chemistry), Sphingolipid, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Biosynthesis, chemistry, Structural Biology, lipids (amino acids, peptides, and proteins), SPTLC1, Molecular Biology, 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::387de1c36f222289f177b97e89aa37b5
https://doi.org/10.1038/s41594-020-00553-7

المؤلفون: Martina Wallace, Le You, Jivani M. Gengatharan, Alan Saghatelian, Antonio Pinto, Christian M. Metallo, Matthew J. Kolar, Michal K. Handzlik, Esther W. Lim, Thekla Cordes, Mehmet G. Badur, Thangaselvam Muthusamy

المصدر: Nature
Nature, vol 586, iss 7831

مصطلحات موضوعية: 0301 basic medicine, Serine C-Palmitoyltransferase, 1-deoxysphinganine, serine palmitoyltransferase, Serine, Mice, chemistry.chemical_compound, 0302 clinical medicine, Neoplasms, Pyruvic Acid, 2.1 Biological and endogenous factors, Aetiology, PHGDH, Cancer, Alanine, Multidisciplinary, anchorage-independent growth, Chemistry, Mitochondria, Cell biology, 5.1 Pharmaceuticals, 030220 oncology & carcinogenesis, Female, Development of treatments and therapeutic interventions, alanine, Cell Division, myriocin, General Science & Technology, Physiological, Glycine, Stress, Article, mitochondrial pyruvate carrier, Membrane Lipids, 03 medical and health sciences, Biosynthesis, Cell Adhesion, Animals, Humans, ceramide, SPTLC1, Phosphoglycerate Dehydrogenase, Deoxysphingolipid, Nutrition, Sphingolipids, Serine C-palmitoyltransferase, HCT116 Cells, Xenograft Model Antitumor Assays, Sphingolipid, Diet, 030104 developmental biology, Cellular, Spheroids

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9979104d4b257b47af2b3c30ced51a87
https://doi.org/10.1038/s41586-020-2609-x

المؤلفون: Mario Fratta, Simone Sampaolo, Davide Colavito, Fabiana Rossi, Gianfranco Puoti, Mariano Oliva, S. Casertano, Giorgia Bruno

المساهمون: Rossi, Fabiana, Bruno, Giorgia, Fratta, Mario, Colavito, Davide, Casertano, Sara, Sampaolo, Simone, Oliva, Mariano, Puoti, Gianfranco

المصدر: Journal of the Peripheral Nervous System. 25:308-311

مصطلحات موضوعية: Genetic disease, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Polyneuropathy, Medicine, SPTLC1, Exome sequencing, Mutation, business.industry, General Neuroscience, Sensory loss, Neuromuscular disease, medicine.disease, Phenotype, HSAN, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Peripheral nervous system, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7316f510b7cdb7b52a6f950e3c3ea82
https://doi.org/10.1111/jns.12394

المؤلفون: Rodrigues, F.G., Pipis, M., Heeren, TFC, Fruttiger, M., Gantner, M., Vermeirsch, S., Okada, M., Friedlander, M., Reilly, M.M., Egan, C.

المصدر: Journal of the peripheral nervous system, vol. 27, no. 3, pp. 215-224

مصطلحات موضوعية: Hereditary Sensory and Autonomic Neuropathies, Humans, Retinal Telangiectasis/complications, Retinal Telangiectasis/diagnosis, Retinal Telangiectasis/genetics, Serine, Serine C-Palmitoyltransferase/genetics, HSAN 1, SPTLC1 protein, SPTLC2 protein, macular telangiectasia type 2

Relation: info:eu-repo/semantics/altIdentifier/pmid/35837722; info:eu-repo/semantics/altIdentifier/eissn/1529-8027; https://serval.unil.ch/notice/serval:BIB_07122EA2753D

الاتاحة: https://serval.unil.ch/notice/serval:BIB_07122EA2753D
https://doi.org/10.1111/jns.12508

المؤلفون: Eric A. Shoubridge, Steffany A. L. Bennett, Tim König, Irina Alecu, Mari J. Aaltonen

المصدر: Life Science Alliance

مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Protein subunit, Serine C-Palmitoyltransferase, Plant Science, Mitochondrion, Endoplasmic Reticulum, Biochemistry, Genetics and Molecular Biology (miscellaneous), 03 medical and health sciences, 0302 clinical medicine, Multienzyme Complexes, medicine, SPTLC1, Research Articles, 030304 developmental biology, 0303 health sciences, Ecology, Chemistry, Serine C-palmitoyltransferase, Biological Transport, Subcellular localization, medicine.disease, Sphingolipid, Membrane contact site, Cell biology, Mitochondria, Mitochondrial toxicity, lipids (amino acids, peptides, and proteins), 030217 neurology & neurosurgery, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a19a93c001307f414eaeedb2ba7cb2
http://europepmc.org/articles/PMC8605320

المؤلفون: Chuo Chen, Yaqin Deng, Sungwon Han, Lin You, Jingcheng Wang, Yong Lu, Jin Ye, Nikitha Vicas

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: Male, Ceramide, TLC, TRAM/LAG1/CLN8, TM4SF20, transmembrane 4 L6 subfamily member 20, FB1, fumonisin B1, CCR5, C–C chemokine receptor 5, SILAC, stable isotope labeling by amino acids in cell culture, SPTLC1, serine palmitoyltransferase long-chain base subunit 1, DHCer, dihydroceramide, TK, thymidine kinase, Ligand Binding Protein, Ceramides, Biochemistry, ANKLE2, ankyrin repeat and LEM domain–containing protein 2, CREB3L1, cAMP response element–binding protein 3-like 1, ER, endoplasmic reticulum, chemistry.chemical_compound, TRAM2, translocating chain-associated membrane protein 2, Humans, ceramide, Molecular Biology, RAT, regulated alternative translocation, Cell Line, Transformed, protein translocation, DMEM, Dulbecco's modified Eagle's medium, Membrane Glycoproteins, ESI, electrospray ionization, Chemistry, Endoplasmic reticulum, Membrane Transport Proteins, Cell Biology, Dihydroceramide desaturase, Sphingolipid, Transmembrane protein, Cell biology, ligand-binding protein, Membrane protein, Sphingolipid binding, click chemistry, pac, photoactivatable and clickable, sphingolipid, Research Article, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df7e084b148bda858167de3f33b0719
http://europepmc.org/articles/PMC8665359