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SLC25A24 Fontaine Progeroid Syndrome.
Velasco D, Olney AH, Starr L. Velasco D, et al. 2022 Jun 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2022 Jun 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 35679445 Free Books & Documents. Review.
To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described. DIAGNOSIS/TESTING: The diagnosis of SLC25A24 Fontaine progeroid syndrome is established in a proband with suggestive findings and a heterozygo …
To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described. DIAGNOSIS …
SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.
Farrow E, Chiocchetti AG, Rogers JC, Pauli R, Raschle NM, Gonzalez-Madruga K, Smaragdi A, Martinelli A, Kohls G, Stadler C, Konrad K, Fairchild G, Freitag CM, Chechlacz M, De Brito SA. Farrow E, et al. Transl Psychiatry. 2021 Sep 24;11(1):492. doi: 10.1038/s41398-021-01609-y. Transl Psychiatry. 2021. PMID: 34561420 Free PMC article.
The identified region spans exon 1 of the SLC25A24 gene, central to energy metabolism due to its role in mitochondrial function. Increased SLC25A24 methylation was also related to lower GMV in multiple brain regions in the overall cohort. ...
The identified region spans exon 1 of the SLC25A24 gene, central to energy metabolism due to its role in mitochondrial function. Incr …
Mitochondrial gene SLC25A24 regulated anti-tumor immunity and inhibited the proliferation and metastasis of colorectal cancer by PKG1-dependent cGMP/PKG1 pathway.
Gao Y, Peng Y, Zhou Y, Zhu J, Fu S, Chen Y, Cai C, Han Y, Shen H, Zeng S, Mao L, Xiao Z. Gao Y, et al. Int Immunopharmacol. 2025 Jun 5;157:114664. doi: 10.1016/j.intimp.2025.114664. Epub 2025 May 6. Int Immunopharmacol. 2025. PMID: 40334626
Our findings demonstrated that SLC25A24 expression is markedly reduced in CRC cell lines and tissues. Kaplan-Meier survival analysis revealed that lower SLC25A24 expression is associated with worse overall survival and progression-free survival in CRC patients. ...T …
Our findings demonstrated that SLC25A24 expression is markedly reduced in CRC cell lines and tissues. Kaplan-Meier survival analysis …
SLC25A24 as a novel susceptibility gene for low fat mass in humans and mice.
Urano T, Shiraki M, Sasaki N, Ouchi Y, Inoue S. Urano T, et al. J Clin Endocrinol Metab. 2015 Apr;100(4):E655-63. doi: 10.1210/jc.2014-2829. Epub 2015 Jan 19. J Clin Endocrinol Metab. 2015. PMID: 25599384
The SLC25A24 SNPs affected the mRNA expression of SLC25A24 in human preadipocytes. Compared with wild-type mice, Slc25a24-KO mice had significantly lower body weights and white adipose tissue weights. Adipocyte differentiation was inhibited in Slc25a24 …
The SLC25A24 SNPs affected the mRNA expression of SLC25A24 in human preadipocytes. Compared with wild-type mice, Slc25a24 …
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Pannier E, Sekri A, Roux N, Vasiljevic A, El Khattabi L, Chatron N, Grotto S, Menzella D, Grangé G, Thébault F, Massardier J, Fourrage C, Lohmann L, Tsatsaris V, Putoux A, Boutaud L, Attié-Bitach T. Pannier E, et al. Birth Defects Res. 2024 Jul;116(7):e2380. doi: 10.1002/bdr2.2380. Birth Defects Res. 2024. PMID: 38980211
BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin-Chaudry-Moss syndrome and Fontaine-Farriaux syndrome …
BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in th …
Correction: SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.
Farrow E, Chiocchetti AG, Rogers JC, Pauli R, Raschle NM, Gonzalez-Madruga K, Smaragdi A, Martinelli A, Kohls G, Stadler C, Konrad K, Fairchild G, Freitag CM, Chechlacz M, De Brito SA. Farrow E, et al. Transl Psychiatry. 2021 Oct 29;11(1):553. doi: 10.1038/s41398-021-01643-w. Transl Psychiatry. 2021. PMID: 34716293 Free PMC article. No abstract available.
Arginine-methylated c-Myc affects mitochondrial mitophagy in mouse acute kidney injury via Slc25a24.
Liu Y, Liu N, He P, Cao S, Li H, Liu D. Liu Y, et al. J Cell Physiol. 2024 Jan;239(1):193-211. doi: 10.1002/jcp.31160. Epub 2024 Jan 1. J Cell Physiol. 2024. PMID: 38164038
On the other hand, the Slc25a24 levels were also correspondingly reduced, which induced the downregulation of ATP production. ...Therefore, arginine-methylated c-Myc affects mouse kidney injury by regulating mitochondrial ATP and ROS, and mitophagy via Slc25a24....
On the other hand, the Slc25a24 levels were also correspondingly reduced, which induced the downregulation of ATP production. ...Ther …
Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling.
Gao LF, Zhong Y, Long T, Wang X, Zhu JX, Wang XY, Hu ZY, Li ZG. Gao LF, et al. J Exp Clin Cancer Res. 2022 Mar 3;41(1):81. doi: 10.1186/s13046-022-02300-w. J Exp Clin Cancer Res. 2022. PMID: 35241150 Free PMC article.
Tumor bud-derived CCL5 could also positively regulate solute carrier family 25 member 24 (SLC25A24) expression in fibroblasts, potentially activating pAkt-pmTOR signaling. Moreover, CCL5 could increase the number of alpha-SMA(high) CD90(high) FAP(low) fibroblasts and thus …
Tumor bud-derived CCL5 could also positively regulate solute carrier family 25 member 24 (SLC25A24) expression in fibroblasts, potent …
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U. Ehmke N, et al. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016. Am J Hum Genet. 2017. PMID: 29100093 Free PMC article.
SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P(i) carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. ...However, upon H(2)O(2) exposure, the membrane potential was significantly elevated in cells harboring the …
SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P(i) carrier. In fibroblasts from affected individuals, the mutated SLC25A2 …
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Rodríguez-García ME, Cotrina-Vinagre FJ, Cruz-Rojo J, Garzón-Lorenzo L, Carnicero-Rodríguez P, Pozo JS, Martínez-Azorín F. Rodríguez-García ME, et al. Am J Med Genet A. 2018 Nov;176(11):2479-2486. doi: 10.1002/ajmg.a.40496. Epub 2018 Oct 17. Am J Med Genet A. 2018. PMID: 30329211
Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for the calcium-binding mitochondrial carrier protein SCaMC-1. ...
Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for the calcium-binding …
45 results