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SERAC1 Deficiency.
Wortmann SB, de Brouwer APM, Wevers RA, Morava E. Wortmann SB, et al. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24741715 Free Books & Documents. Review.
Affected children are completely dependent on care for all activities of daily living; speech is absent. DIAGNOSIS/TESTING: The diagnosis of SERAC1 deficiency is established in a proband with suggestive clinical and metabolic (3-methylglutaconic aciduria) findings and bial …
Affected children are completely dependent on care for all activities of daily living; speech is absent. DIAGNOSIS/TESTING: The diagnosis of …
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Fang H, Xie A, Du M, Li X, Yang K, Fu Y, Yuan X, Fan R, Yu W, Zhou Z, Sang T, Nie K, Li J, Zhao Q, Chen Z, Yang Y, Hong C, Lyu J. Fang H, et al. Sci Transl Med. 2022 Mar 2;14(634):eabl6992. doi: 10.1126/scitranslmed.abl6992. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235340
SERAC1 deficiency is associated with the mitochondrial 3-methylglutaconic aciduria with deafness, (hepatopathy), encephalopathy, and Leigh-like disease [MEGD(H)EL] syndrome, but the role of SERAC1 in mitochondrial physiology remains unknown. ...We found that SERA …
SERAC1 deficiency is associated with the mitochondrial 3-methylglutaconic aciduria with deafness, (hepatopathy), encephalopathy, and …
SERAC1 Deficiency- A New Phenotype.
Martins E, Durães J, Nogueira C, Gomes J, Vilarinho L, Macário C. Martins E, et al. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114456. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711114
Diagnosis is confirmed when biallelic pathogenic variants in SERAC1 gene are found. Brain MRI: basal ganglia lesions and generalized atrophy. ...She has a homozygotic SERAC1 variant NM_032861: exon4:c.T139A: p.F471 (rs112780453), considered benign. ...
Diagnosis is confirmed when biallelic pathogenic variants in SERAC1 gene are found. Brain MRI: basal ganglia lesions and generalized …
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.
Ashton C, Davis M, Laing N, Ravenscroft G, Lamont P. Ashton C, et al. Neurol Genet. 2023 Mar 31;9(2):e200067. doi: 10.1212/NXG.0000000000200067. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090937 Free PMC article.
OBJECTIVES: To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progressive dystonia. METHODS: Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolv …
OBJECTIVES: To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progres …
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is due to mutations in the serine active site-containing protein 1 (SERAC1) gene. The SERAC1 protein is localized at the interface between the mitochondria and the endoplasmic reticulum in the mitochondrion-associated membrane fraction, which is esse …
MEGDEL syndrome is due to mutations in the serine active site-containing protein 1 (SERAC1) gene. The SERAC1 protein is locali …
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646
These phosphatidylglycerol changes, however, were milder than in classic infantile-onset SERAC1 cases, which might partially explain the milder SERAC1 phenotype. CONCLUSIONS: Our findings add SERAC1 to the increasing list of complex lipid cHSP genes. At the s …
These phosphatidylglycerol changes, however, were milder than in classic infantile-onset SERAC1 cases, which might partially explain …
Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family.
Yan D, Chen S, Cai F, Shu J, Zhi X, Zheng J, Zhang C, Li D, Cai C. Yan D, et al. Front Pediatr. 2022 Feb 11;9:816265. doi: 10.3389/fped.2021.816265. eCollection 2021. Front Pediatr. 2022. PMID: 35223715 Free PMC article.
Thus, in this study, we aimed to confirm the relationship between SERAC1 variants and complicated hereditary spastic paraplegia. METHODS: MRI and laboratory tests, including gas chromatography/mass spectrometry (GC/MS), were carried out for the proband. ...CONCLUSIONS: Thi …
Thus, in this study, we aimed to confirm the relationship between SERAC1 variants and complicated hereditary spastic paraplegia. METH …
[Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review].
Lin X, Lin X, Yan Z, Chen Y, Chen S. Lin X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1100-1106. doi: 10.3760/cma.j.cn511374-20220428-00291. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37643955 Review. Chinese.
Gene sequencing revealed that both children have harbored pathogenic compound heterozygous variants of the SERAC1 gene, including c.1159C>T and c.442C>T in child 1, and c.1168C>T and exons 4~9 deletion in child 2. ...Discovery of the novel variants has also enrich …
Gene sequencing revealed that both children have harbored pathogenic compound heterozygous variants of the SERAC1 gene, including c.1 …
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V, Banerjee R, Lin KL, Pulli I, Cooper H, Tyynismaa H, Kallijärvi J. Fellman V, et al. Biochim Biophys Acta Mol Basis Dis. 2022 Jan 1;1868(1):166298. doi: 10.1016/j.bbadis.2021.166298. Epub 2021 Oct 28. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 34751152 Free article.
The SERAC1 protein is located at the contact site between mitochondria and the endoplasmic reticulum (ER) and is crucial for cholesterol trafficking. ...In transfected COS-1 cells the mutant protein with the a 45-amino acid C-terminal truncation was distributed throughout …
The SERAC1 protein is located at the contact site between mitochondria and the endoplasmic reticulum (ER) and is crucial for choleste …
68 results