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Year | Number of Results |
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2013 | 1 |
2016 | 2 |
2024 | 0 |
PubMed (GeneRIF) for id: 320244
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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.
Hum Mol Genet. 2016.
PMID: 28173158
Free article.
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Sun X, Park JH, Gumerson J, Wu Z, Swaroop A, Qian H, Roll-Mecak A, Li T.
Sun X, et al.
Proc Natl Acad Sci U S A. 2016 May 24;113(21):E2925-34. doi: 10.1073/pnas.1523201113. Epub 2016 May 9.
Proc Natl Acad Sci U S A. 2016.
PMID: 27162334
Free PMC article.
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Disruption of Ttll5/stamp gene (tubulin tyrosine ligase-like protein 5/SRC-1 and TIF2-associated modulatory protein gene) in male mice causes sperm malformation and infertility.
Lee GS, He Y, Dougherty EJ, Jimenez-Movilla M, Avella M, Grullon S, Sharlin DS, Guo C, Blackford JA Jr, Awasthi S, Zhang Z, Armstrong SP, London EC, Chen W, Dean J, Simons SS Jr.
Lee GS, et al.
J Biol Chem. 2013 May 24;288(21):15167-80. doi: 10.1074/jbc.M113.453936. Epub 2013 Apr 4.
J Biol Chem. 2013.
PMID: 23558686
Free PMC article.
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