Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M.
Martinelli S, et al. Among authors: ioannides a.
Hum Mutat. 2020 Jun;41(6):1171-1182. doi: 10.1002/humu.24007. Epub 2020 Mar 11.
Hum Mutat. 2020.
PMID: 32112654