Steven Rodems

TL;DR: Application of iPSC-derived human neurons is a new direction for neuronal drug discovery because these cells have the genetic backgrounds of patients that more precisely model disease-specific pathophysiology and phenotypes.

TL;DR: A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant in exon 4.

TL;DR: A review of the current and potential key technologies and strategies which may yield a significant leap in developing targeted therapies for ALGS can be found in this paper, where the authors review several of the key technologies, strategies, and strategies for developing targeted ALGS therapies.

TL;DR: An induced pluripotent stem cell line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A >T) in the NGLY1 gene and offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLy1 patients.

TL;DR: This 384-well plate based automated SPE-MS/MS assay is efficient and robust for compound screening and the assay format has a wide applicability to protein targets for other disease models.