Collagen post-translational modification is not altered in Proband 1.

Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, MaryAnn; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H.

doi:10.1371/journal.pgen.1011005.s008

pgen.1011005.s008.pdf (28.83 kB)

Collagen post-translational modification is not altered in Proband 1.

journal contribution

posted on 2023-11-07, 18:41 authored by Ronit Marom, Bo Zhang, Megan E. Washington, I-Wen Song, Lindsay C. Burrage, Vittoria C. Rossi, Ava S. Berrier, Anika Lindsey, Jacob Lesinski, Michael L. Nonet, Jian Chen, Dustin Baldridge, Gary A. Silverman, V. Reid Sutton, Jill A. Rosenfeld, Alyssa A. Tran, M. John Hicks, David R. Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

Type I collagen isolated from patient fibroblasts showed no difference in electrophoretic migration pattern between patient and control. Mass spectrometry analysis showed no difference in hydroxylation pattern of 3-Hydroxyproline at P986 between patient and control.

(PDF)