Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity-Reference-Cited by-同舟云学术

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity

Published:2024-02-16 Issue:4 Volume:39 Page:611-623
ISSN:1573-7365
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Maalej Marwa^ORCID,Sfaihi Lamia^ORCID,Fersi Olfa-Alila^ORCID,Khabou Boudour^ORCID,Ammar Marwa^ORCID,Felhi Rahma^ORCID,Kharrat Marwa^ORCID,Chouchen Jihen^ORCID,Kammoun Thouraya^ORCID,Tlili Abdelaziz^ORCID,Fakhfakh Faiza^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11011-024-01343-6.pdf

Reference46 articles.

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2. Al Mutairi F, Shamseldin HE, Alfadhel M et al (2017) A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Clin Genet 91:629–633. https://doi.org/10.1111/cge.12891

3. Aoto Y, Horinouchi T, Yamamura T et al (2022) Last nucleotide substitutions of COL4A5 exons cause aberrant splicing. Kidney Int Rep 7:108–116. https://doi.org/10.1016/j.ekir.2021.10.012

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5. Bromberg Y, Rost B (2007) SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35:3823–3835. https://doi.org/10.1093/nar/gkm238