The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

bioRxiv · Oct 3, 2019 · PreprintGenetics

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

Adem Y. Dawed, Kaixin Zhou, Nienke van Leeuwen, Anubha Mahajan, Neil Robertson, Robert Wilhelm Koivula, Petra J. M. Elders, Simone P. Rauh, Angus G. Jones, Reinhard Walter Holl, Julia Stingl, Paul W. Franks, Mark I. McCarthy, Leen M. ‘t Hart, Ewan R. Pearson, , A. Forman

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

Diabetes Care · Mar 18, 2019Peer-reviewedGenetics

Neuregulin 1 type III reduces severity in a mouse model of Congenital Hypomyelinating Neuropathy

Sophie Belin, Francesca Ornaghi, Ghjuvan’Ghjacumu Shackleford, Jie Wang, Cristina Scapin, Camila Lopez‐Anido, Nicholas J. Silvestri, Neil Robertson, Courtney Williamson, Akihiro Ishii, Carla Taveggia, John P. Svaren, Rashmi Bansal, Markus H. Schwab, Klaus‐Armin Nave, , Lawrence G. Wrabetz

This study shows that increasing neuregulin 1 type III in neurons improves myelination in a mouse model of congenital hypomyelinating neuropathy without relying on Egr2 or typical myelin genes.

bioRxiv · Aug 7, 2018 · PreprintNeuroscience