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Cullot G, Boutin J, Toutain J, Prat F, Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I, Guyonnet-Duperat V, Bibeyran A, Lalanne M, Prouzet-Mauléon V, Turcq B, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A.
Nature communications. 2019 03;10(1)1136.
CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair is rare compared with NHEJ pathway leading to on-target i
PMID 30850590

Ranking Enzyme Structures in the PDB by Bound Ligand Similarity to Biological Substrates.

Tyzack JD, Fernando L, Ribeiro AJM, Borkakoti N, Thornton JM.
Structure (London, England : 1993). 2018 04;26(4)565-571.e3.
There are numerous applications that use the structures of protein-ligand complexes from the PDB, such as 3D pharmacophore identification, virtual screening, and fragment-based drug design. The structures underlying these applications are potentially much more informative if they contain biologicall
PMID 29551288

[Congenital erythropoietic porphyria: case report and management recommendations].

Salomone B C, Ogueta C I, Reyes V C, Durán S G, Aguirre N, Wietstruck A.
Archivos argentinos de pediatria. 2018 Apr;116(2)e300-e302.
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested
PMID 29557620