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Page 1
Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.
Tao X, Che Y, Li C, Ruan W, Xu J, Yu Y, Yang F, Wang J, Li H. Tao X, et al. Cytogenet Genome Res. 2021;161(10-11):514-519. doi: 10.1159/000520296. Epub 2021 Dec 8. Cytogenet Genome Res. 2021. PMID: 34879376 Free article.
Exome sequencing revealed a 1-bp homozygous deletion in SNX13 (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a frameshift and predicted early termination. Sanger sequencing confirmed that the variant was inherited from his parents respectively. Our find …
Exome sequencing revealed a 1-bp homozygous deletion in SNX13 (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a fr …
CRISPR screens for lipid regulators reveal a role for ER-bound SNX13 in lysosomal cholesterol export.
Lu A, Hsieh F, Sharma BR, Vaughn SR, Enrich C, Pfeffer SR. Lu A, et al. J Cell Biol. 2022 Feb 7;221(2):e202105060. doi: 10.1083/jcb.202105060. Epub 2021 Dec 22. J Cell Biol. 2022. PMID: 34936700 Free PMC article.
The screens confirm tight coregulation of cholesterol and bis(monoacylglycero)phosphate in cells and reveal an unexpected role for the ER-localized SNX13 protein as a negative regulator of lysosomal cholesterol export and contributor to ER-lysosome membrane contact sites. …
The screens confirm tight coregulation of cholesterol and bis(monoacylglycero)phosphate in cells and reveal an unexpected role for the ER-lo …
SNX13 reduction mediates heart failure through degradative sorting of apoptosis repressor with caspase recruitment domain.
Li J, Li C, Zhang D, Shi D, Qi M, Feng J, Yuan T, Xu X, Liang D, Xu L, Zhang H, Liu Y, Chen J, Ye J, Jiang W, Cui Y, Zhang Y, Peng L, Zhou Z, Chen YH. Li J, et al. Nat Commun. 2014 Oct 8;5:5177. doi: 10.1038/ncomms6177. Nat Commun. 2014. PMID: 25295779 Free article.
Decreased levels of SNX13 are observed in failing hearts of humans and of experimental animals. SNX13-deficient zebrafish recapitulate HF with striking cardiomyocyte apoptosis. ...Consequently, the apoptotic pathway is activated, resulting in the loss of cardiac cel …
Decreased levels of SNX13 are observed in failing hearts of humans and of experimental animals. SNX13-deficient zebrafish reca …
Pig KALRN, MYH1, MLC2V, SNX13, AK1, and PPIA loci RH mapping and chromosome position refining.
Gorni C, Iacuaniello S, Castiglioni B, Pagnacco G, Mariani P. Gorni C, et al. Genet Mol Res. 2008 Oct 7;7(4):982-5. doi: 10.4238/vol7-4gmr471. Genet Mol Res. 2008. PMID: 19048477 Free article.
Four ESTs homologous to MYH1, KALRN, MLC2V, and SNX13 genes plus two genes (AK1, PPIA) used as housekeeping for muscle tissue were assigned to porcine chromosomes using the INRA-Minnesota 7000 rads radiation hybrid panel (IMpRH). Our data confirm and refine the cytogenetic …
Four ESTs homologous to MYH1, KALRN, MLC2V, and SNX13 genes plus two genes (AK1, PPIA) used as housekeeping for muscle tissue were as …
Essential role of RGS-PX1/sorting nexin 13 in mouse development and regulation of endocytosis dynamics.
Zheng B, Tang T, Tang N, Kudlicka K, Ohtsubo K, Ma P, Marth JD, Farquhar MG, Lehtonen E. Zheng B, et al. Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16776-81. doi: 10.1073/pnas.0607974103. Epub 2006 Oct 31. Proc Natl Acad Sci U S A. 2006. PMID: 17077144 Free PMC article.
To understand the functions of RGS-PX1/SNX13 in vivo, we generated mice carrying targeted mutations of Snx13 and found that systemic Snx13-null mice were embryonic lethal around midgestation. ...These changes suggest that Snx13-null embryos are defecti …
To understand the functions of RGS-PX1/SNX13 in vivo, we generated mice carrying targeted mutations of Snx13 and found that sy …
Sorting (Nexin-13) out Novel Insights into Endolysosomal Cholesterol Export.
Lu A. Lu A. Contact (Thousand Oaks). 2022 Jul 21;5:25152564221114513. doi: 10.1177/25152564221114513. eCollection 2022 Jan-Dec. Contact (Thousand Oaks). 2022. PMID: 37366510 Free PMC article.
This approach confirmed known genes and pathways involved in this process, and more importantly revealed previously unrecognized roles for new players, such as Sorting Nexin-13 (SNX13). Here we discuss the unexpected regulatory role of SNX13 in endolysosomal cholest …
This approach confirmed known genes and pathways involved in this process, and more importantly revealed previously unrecognized roles for n …
Structural Studies Reveal Unique Non-canonical Regulators of G Protein Signaling Homology (RH) Domains in Sorting Nexins.
Zhang Y, Chen R, Dong Y, Zhu J, Su K, Liu J, Xu J. Zhang Y, et al. J Mol Biol. 2022 Nov 15;434(21):167823. doi: 10.1016/j.jmb.2022.167823. Epub 2022 Sep 11. J Mol Biol. 2022. PMID: 36103920
As a subgroup of sorting nexins (SNXs) that contain regulator of G protein signaling homology (RH) domain, SNX-RH proteins, including SNX13, SNX14 and SNX25, were proposed to play bifunctional roles in protein sorting and GPCR signaling regulation. ...Here, we delineate cr …
As a subgroup of sorting nexins (SNXs) that contain regulator of G protein signaling homology (RH) domain, SNX-RH proteins, including SNX …
Polygenic risk scores and the need for pharmacotherapy in neonatal abstinence syndrome.
Bibi S, Gaddis N, Johnson EO, Lester BM, Kraft W, Singh R, Terrin N, Adeniyi-Jones S, Davis JM. Bibi S, et al. Pediatr Res. 2023 Apr;93(5):1368-1374. doi: 10.1038/s41390-022-02243-0. Epub 2022 Aug 16. Pediatr Res. 2023. PMID: 35974158 Free PMC article.
RESULTS: Cross-ancestry GWAS identified one intergenic locus on chromosome 7 downstream of SNX13 exhibiting genome-wide association with need for pharmacotherapy. PRS models derived from the GWAS for a subset of the European ancestry neonates reliably discriminated between …
RESULTS: Cross-ancestry GWAS identified one intergenic locus on chromosome 7 downstream of SNX13 exhibiting genome-wide association w …
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
Mulindwa J, Noyes H, Ilboudo H, Pagani L, Nyangiri O, Kimuda MP, Ahouty B, Asina OF, Ofon E, Kamoto K, Kabore JW, Koffi M, Ngoyi DM, Simo G, Chisi J, Sidibe I, Enyaru J, Simuunza M, Alibu P, Jamonneau V, Camara M, Tait A, Hall N, Bucheton B, MacLeod A, Hertz-Fowler C, Matovu E; TrypanoGEN Research Group of the H3Africa Consortium. Mulindwa J, et al. Am J Hum Genet. 2020 Sep 3;107(3):473-486. doi: 10.1016/j.ajhg.2020.07.007. Epub 2020 Aug 10. Am J Hum Genet. 2020. PMID: 32781046 Free PMC article.
We found selective sweeps at four loci (SLC24A5, SNX13, TYRP1, and UVRAG) associated with skin pigmentation, three of which already have been reported to be under selection. ...
We found selective sweeps at four loci (SLC24A5, SNX13, TYRP1, and UVRAG) associated with skin pigmentation, three of which already h …
23 results