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Wilson, R, Freddi, S, Chan, D, Cheah, KSE, Bateman, JF.
Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response..
J Biol Chem
280(16)
:
15544 -15552
2005
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Baker, NL, Mörgelin, M, Peat, R, Goemans, N, North, KN, Bateman, JF, Lamandé, SR.
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy..
Hum Mol Genet
14(2)
:
279 -293
2005
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Fitzgerald, J, Bateman, JF.
Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineage..
Trends Genet
20(9)
:
408 -412
2004
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Gotkin, MG, Ripley, CR, Lamande, SR, Bateman, JF, Bienkowski, RS.
Intracellular trafficking and degradation of unassociated proalpha2 chains of collagen type I..
Exp Cell Res
296(2)
:
307 -316
2004
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Bateman, JF, Freddi, S, McNeil, R, Thompson, E, Hermanns, P, Savarirayan, R, Lamandé, SR.
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly..
Hum Mutat
23(4)
:
396
2004
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