Neuropharmacology & Neurotherapeutics
Mar. 20, 2021
Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.
Key: (a) Normal L2HGDH protein model; (b) mutant L2HGDH protein model; (c) superimposed structure. Due to misfolding the 3D structures of wild type and mutated L2HGDH failed to overlap when superimposed, confirming that the identified frameshift mutation results in structural distortion of L2HGDH. (Source: Muzammal M, Ali MZ, Brugger B, et al. A novel protein-truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family. Metab Brain Dis 2022;37:243-52. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)