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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2018 | 1 |
2019 | 1 |
2021 | 2 |
2022 | 1 |
2023 | 1 |
2024 | 1 |
PubMed (GeneRIF) for id: 23287
7 results
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Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.
J Cell Mol Med. 2024 Jan;28(2):e18031. doi: 10.1111/jcmm.18031. Epub 2023 Nov 8.
J Cell Mol Med. 2024.
PMID: 37937809
Free PMC article.
The AGTPBP1 gene in neurobiology.
Lalonde R, Strazielle C.
Lalonde R, et al.
Gene. 2022 Jan 30;809:146001. doi: 10.1016/j.gene.2021.146001. Epub 2021 Oct 9.
Gene. 2022.
PMID: 34637898
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A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Türay S, Eröz R, Başak AN.
Türay S, et al.
Neurogenetics. 2021 May;22(2):127-132. doi: 10.1007/s10048-021-00643-8. Epub 2021 Apr 28.
Neurogenetics. 2021.
PMID: 33909173
Review.
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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T.
Sheffer R, et al.
Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.
Eur J Hum Genet. 2019.
PMID: 30976113
Free PMC article.
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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.
Shashi V, et al.
EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.
EMBO J. 2018.
PMID: 30420557
Free PMC article.
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C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini.
Tanco S, Tort O, Demol H, Aviles FX, Gevaert K, Van Damme P, Lorenzo J.
Tanco S, et al.
Mol Cell Proteomics. 2015 Jan;14(1):177-90. doi: 10.1074/mcp.M114.040360. Epub 2014 Nov 7.
Mol Cell Proteomics. 2015.
PMID: 25381060
Free PMC article.
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Identification of CRM1-dependent Nuclear Export Cargos Using Quantitative Mass Spectrometry.
Thakar K, Karaca S, Port SA, Urlaub H, Kehlenbach RH.
Thakar K, et al.
Mol Cell Proteomics. 2013 Mar;12(3):664-78. doi: 10.1074/mcp.M112.024877. Epub 2012 Dec 13.
Mol Cell Proteomics. 2013.
PMID: 23242554
Free PMC article.
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