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Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O. Wu CW, et al. Mol Genet Metab. 2023 Jul;139(3):107626. doi: 10.1016/j.ymgme.2023.107626. Epub 2023 Jun 10. Mol Genet Metab. 2023. PMID: 37354892 Review.
Sengers syndrome (OMIM# 212350) is a rare autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the AGK gene, which encodes the acylglycerol kinase enzyme. ...Our analysis demonstrates the variable expressivity and penetrance of the ce …
Sengers syndrome (OMIM# 212350) is a rare autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in …
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
BACKGROUND: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of …
BACKGROUND: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyop …
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan P, Yang KQ, Han B, Kong D, Yin WH, Li JH, Yang ZX, Niu LL, Fu CS, Rong CZ, Lin YH, Wang H, Zhou XL, Gao LG, Qin XC, Tian T. Fan P, et al. Pediatr Res. 2023 Aug;94(2):683-690. doi: 10.1038/s41390-023-02515-3. Epub 2023 Feb 9. Pediatr Res. 2023. PMID: 36759750
BACKGROUND: Sengers syndrome characterized by hypertrophic cardiomyopathy is an extremely rare genetic disorder. Sengers syndrome associated with left ventricular non-compaction (LVNC) has not been described. ...
BACKGROUND: Sengers syndrome characterized by hypertrophic cardiomyopathy is an extremely rare genetic disorder. Sengers …
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D. Kang Y, et al. Mol Cell. 2017 Aug 3;67(3):457-470.e5. doi: 10.1016/j.molcel.2017.06.014. Epub 2017 Jul 14. Mol Cell. 2017. PMID: 28712726 Free article.
We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import and assembly of mitochondrial carrier proteins. Mitochondria isolated from Sengers syndrome patient cells and tissues show a des …
We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import an …
Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report.
Fnon NF, Hassan HH, Ali HM, Sobh ZK. Fnon NF, et al. Cardiovasc Pathol. 2021 Sep-Oct;54:107371. doi: 10.1016/j.carpath.2021.107371. Epub 2021 Jul 16. Cardiovasc Pathol. 2021. PMID: 34274418
Sengers syndrome is a rare autosomal recessive disorder caused by a mutation in the Acylglycerol Kinase (AGK) gene with subsequent mitochondrial dysfunction. It is a combination of cardiomyopathy, skeletal myopathy, congenital bilateral cataracts, and lactic acidosi …
Sengers syndrome is a rare autosomal recessive disorder caused by a mutation in the Acylglycerol Kinase (AGK) gene with subseq …
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.
Jackson TD, Hock DH, Fujihara KM, Palmer CS, Frazier AE, Low YC, Kang Y, Ang CS, Clemons NJ, Thorburn DR, Stroud DA, Stojanovski D. Jackson TD, et al. Mol Biol Cell. 2021 Mar 15;32(6):475-491. doi: 10.1091/mbc.E20-06-0390. Epub 2021 Jan 21. Mol Biol Cell. 2021. PMID: 33476211 Free PMC article.
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex at the inner mitochondrial membrane. Mutations in AGK cause Sengers syndrome, an autosomal recessive condition characterized by congeni …
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex at the in …