PubMed for id: 1519241946

Year	Number of Results
2004	1
2006	1
2010	1
2011	2
2015	1
2019	2
2020	2
2021	2
2022	1
2024	0

1

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

Van Daele SH, Moisse M, Race V, Van Eesbeeck A, Keldermans L, Vermeer S, Van Esch H, Claeys KG, Van Damme P. Van Daele SH, et al. Eur J Neurol. 2022 Jan;29(1):345-349. doi: 10.1111/ene.15091. Epub 2021 Sep 17. Eur J Neurol. 2022. PMID: 34469621 Free PMC article.

2

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

de Sainte Agathe JM, Mercier S, Mahé JY, Péréon Y, Buratti J, Tissier L, Kol B, Said SA, Leguern É, Banneau G, Stévanin G. de Sainte Agathe JM, et al. Mov Disord. 2021 Mar;36(3):771-774. doi: 10.1002/mds.28371. Epub 2020 Nov 9. Mov Disord. 2021. PMID: 33165979

3

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Wagner M, et al. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9. Nat Commun. 2019. PMID: 31636353 Free PMC article.

4

E3 ubiquitin ligase RNF170 inhibits innate immune responses by targeting and degrading TLR3 in murine cells.

Song X, Liu S, Wang W, Ma Z, Cao X, Jiang M. Song X, et al. Cell Mol Immunol. 2020 Aug;17(8):865-874. doi: 10.1038/s41423-019-0236-y. Epub 2019 May 10. Cell Mol Immunol. 2020. PMID: 31076723 Free PMC article.

5

A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.

Wright FA, Lu JP, Sliter DA, Dupré N, Rouleau GA, Wojcikiewicz RJ. Wright FA, et al. J Biol Chem. 2015 May 29;290(22):13948-57. doi: 10.1074/jbc.M115.655043. Epub 2015 Apr 16. J Biol Chem. 2015. PMID: 25882839 Free PMC article.

6

RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.

Lu JP, Wang Y, Sliter DA, Pearce MM, Wojcikiewicz RJ. Lu JP, et al. J Biol Chem. 2011 Jul 8;286(27):24426-33. doi: 10.1074/jbc.M111.251983. Epub 2011 May 24. J Biol Chem. 2011. PMID: 21610068 Free PMC article.

7

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. Valdmanis PN, et al. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28. Brain. 2011. PMID: 21115467

8

A germline-specific class of small RNAs binds mammalian Piwi proteins.

Girard A, Sachidanandam R, Hannon GJ, Carmell MA. Girard A, et al. Nature. 2006 Jul 13;442(7099):199-202. doi: 10.1038/nature04917. Epub 2006 Jun 4. Nature. 2006. PMID: 16751776

9

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

Valdmanis PN, Simões Lopes AA, Gros-Louis F, Stewart JD, Rouleau GA, Dupré N. Valdmanis PN, et al. J Med Genet. 2004 Aug;41(8):634-9. doi: 10.1136/jmg.2004.019711. J Med Genet. 2004. PMID: 15286160 Free PMC article. No abstract available.

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