ECHS1 Matched Antibody Pair (361) (APMAB-361LY)

Pata, S., Flores-Rojas, K., Gil, A., López-Laso, E., Marti-Sánchez, L., Baide-Mairena, H., ... & Gil-Campos, M. (2022). Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. Orphanet Journal of Rare Diseases, 17(1), 1-10.

Muntean, C., Tripon, F., Bogliș, A., & Bănescu, C. (2022). Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review. International Journal of Environmental Research and Public Health, 19(4), 2088.

Cai, K., Wang, F., Lu, J. Q., Shen, A. N., Zhao, S. M., Zang, W. D., ... & Zhao, J. Y. (2022). Nicotinamide mononucleotide alleviates cardiomyopathy phenotypes caused by short-chain enoyl-CoA hydratase 1 deficiency. Basic to Translational Science, 7(4), 348-362.

Yang, H., & Yu, D. (2020). Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency: two case reports and the review of the literature. BMC pediatrics, 20(1), 1-10.

Masnada, S., Parazzini, C., Bini, P., Barbarini, M., Alberti, L., Valente, M., ... & Tonduti, D. (2020). Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency. European Journal of Paediatric Neurology, 28, 151-158.

Fitzsimons, P. E., Alston, C. L., Bonnen, P. E., Hughes, J., Crushell, E., Geraghty, M. T., ... & Mayne, P. D. (2018). Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics Part A, 176(5), 1115-1127.

Carlston, C. M., Ferdinandusse, S., Hobert, J. A., Mao, R., & Longo, N. (2018). Extrapolation of variant phase in mitochondrial short-chain Enoyl-CoA Hydratase (ECHS1) deficiency. In JIMD Reports, Volume 43 (pp. 103-109). Springer, Berlin, Heidelberg.

Sharpe, A. J., & McKenzie, M. (2018). Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Cells, 7(6), 46.

Campbell, N. V., Weitzenkamp, D. A., Campbell, I. L., Schmidt, R. F., Hicks, C., Morgan, M. J., ... & Tentler, J. J. (2018). “Omics” data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy. BMC Medical Genomics, 11(1), 1-30.

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control