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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 3
1997 1
2002 1
2008 1
2009 1
2010 2
2011 1
2013 2
2014 3
2015 3
2017 5
2018 5
2019 3
2020 4
2021 5
2022 2
2023 4
2024 0

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39 results

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Page 1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAG …
Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH.
Tan M, Mosaoa R, Graham GT, Kasprzyk-Pawelec A, Gadre S, Parasido E, Catalina-Rodriguez O, Foley P, Giaccone G, Cheema A, Kallakury B, Albanese C, Yi C, Avantaggiati ML. Tan M, et al. Cell Death Differ. 2020 Jul;27(7):2143-2157. doi: 10.1038/s41418-020-0491-6. Epub 2020 Jan 20. Cell Death Differ. 2020. PMID: 31959914 Free PMC article.
Currently, there is no approved treatment for NASH. The mitochondrial citrate carrier, Slc25a1, has been proposed to play an important role in lipid metabolism, suggesting a potential role for this protein in the pathogenesis of this disease. ...These effects are different …
Currently, there is no approved treatment for NASH. The mitochondrial citrate carrier, Slc25a1, has been proposed to play an importan …
Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.
Rigby MJ, Orefice NS, Lawton AJ, Ma M, Shapiro SL, Yi SY, Dieterich IA, Frelka A, Miles HN, Pearce RA, Yu JPJ, Li L, Denu JM, Puglielli L. Rigby MJ, et al. Brain. 2022 Apr 18;145(2):500-516. doi: 10.1093/brain/awab295. Brain. 2022. PMID: 35203088 Free PMC article.
AT-1 overexpressing neurons maintain the cytosolic pool of acetyl-CoA by upregulation of SLC25A1, the mitochondrial citrate/malate antiporter and ATP citrate lyase, which converts cytosolic citrate into acetyl-CoA. All three genes have been associated with autism spectrum …
AT-1 overexpressing neurons maintain the cytosolic pool of acetyl-CoA by upregulation of SLC25A1, the mitochondrial citrate/malate an …
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Nota B, et al. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009. Am J Hum Genet. 2013. PMID: 23561848 Free PMC article.
Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts harboring certain mutations, suggest that SLC25A1 deficiency is pathogenic. Our results identify defects in SLC25A1 as a cause …
Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts …
SLC25A1 promotes tumor growth and survival by reprogramming energy metabolism in colorectal cancer.
Yang Y, He J, Zhang B, Zhang Z, Jia G, Liu S, Wu T, He X, Wang N. Yang Y, et al. Cell Death Dis. 2021 Nov 27;12(12):1108. doi: 10.1038/s41419-021-04411-2. Cell Death Dis. 2021. PMID: 34839347 Free PMC article.
Our bioinformatics analysis indicated that SLC25A1 was markedly upregulated in CRC. However, the role of SLC25A1 in the pathogenesis and aberrant lipid metabolism in CRC remain unexplored. ...Under normal conditions, SLC25A1 increased de novo lipid synthesis …
Our bioinformatics analysis indicated that SLC25A1 was markedly upregulated in CRC. However, the role of SLC25A1 in the pathog …
A key role of the mitochondrial citrate carrier (SLC25A1) in TNFalpha- and IFNgamma-triggered inflammation.
Infantino V, Iacobazzi V, Menga A, Avantaggiati ML, Palmieri F. Infantino V, et al. Biochim Biophys Acta. 2014 Nov;1839(11):1217-1225. doi: 10.1016/j.bbagrm.2014.07.013. Epub 2014 Jul 27. Biochim Biophys Acta. 2014. PMID: 25072865 Free PMC article.
We have previously shown that SLC25A1 is a target gene for lipopolysaccharide signaling and promotes the production of inflammatory mediators. ...By studying the down-stream events following SLC25A1 activation during signals that mimic inflammation, we demonstrate t …
We have previously shown that SLC25A1 is a target gene for lipopolysaccharide signaling and promotes the production of inflammatory m …
The SLC25A1-p53 mutant crosstalk.
Albanese C, Avantaggiati ML. Albanese C, et al. Aging (Albany NY). 2015 Aug;7(8):519-20. doi: 10.18632/aging.100785. Aging (Albany NY). 2015. PMID: 26298092 Free PMC article. No abstract available.
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS. Cohen I, et al. Am J Med Genet A. 2018 Feb;176(2):330-336. doi: 10.1002/ajmg.a.38574. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226520
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. ...Only a single family with an SLC25A1 mutation has been des
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hyp
39 results