Center for the Development of Therapeutics

Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features.

Madison JM, Duong K, Vieux EF, et al. Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features. iScience. 2021;24(1):101935. doi:10.1016/j.isci.2020.101935Google Scholar PubMed DOI

Synthetic Lethal Interaction between the ESCRT Paralog Enzymes VPS4A and VPS4B in Cancers Harboring Loss of Chromosome 18q or 16q.

Neggers JE, Paolella BR, Asfaw A, et al. Synthetic Lethal Interaction between the ESCRT Paralog Enzymes VPS4A and VPS4B in Cancers Harboring Loss of Chromosome 18q or 16q. Cell Rep. 2020;33(11):108493. doi:10.1016/j.celrep.2020.108493Google Scholar PubMed DOI

TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41.

Carey KL, Paulus GLC, Wang L, et al. TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41. Cell Rep. 2020;33(6):108371. doi:10.1016/j.celrep.2020.108371Google Scholar PubMed DOI

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.

Iqbal S, Pérez-Palma E, Jespersen JB, et al. Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. Proc Natl Acad Sci U S A. 2020;117(45):28201-28211. doi:10.1073/pnas.2002660117Google Scholar PubMed DOI

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Heyne HO, Baez-Nieto D, Iqbal S, et al. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci Transl Med. 2020;12(556). doi:10.1126/scitranslmed.aay6848Google Scholar PubMed DOI

Multimodal small-molecule screening for human prion protein binders.

Reidenbach AG, Mesleh MF, Casalena D, et al. Multimodal small-molecule screening for human prion protein binders. J Biol Chem. 2020. doi:10.1074/jbc.RA120.014905Google Scholar PubMed DOI

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.

Iqbal S, Hoksza D, Pérez-Palma E, et al. MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Res. 2020;48(W1):W132-W139. doi:10.1093/nar/gkaa361Google Scholar PubMed DOI

A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic.

Alimova M, Sidhom EH, Satyam A, et al. A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic. bioRxiv. 2020. doi:10.1101/2020.06.30.180380Google Scholar PubMed DOI

Cationic zinc is required for factor XII recruitment and activation by stimulated platelets and for thrombus formation in vivo.

Chaudhry SA, Serrata M, Tomczak L, et al. Cationic zinc is required for factor XII recruitment and activation by stimulated platelets and for thrombus formation in vivo. J Thromb Haemost. 2020. doi:10.1111/jth.14964Google Scholar PubMed DOI

Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1.

Tatavarty V, Pacheco AT, Kuhnle CG, et al. Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1. Neuron. 2020;106(5):769-777.e4. doi:10.1016/j.neuron.2020.02.033Google Scholar PubMed DOI