Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s...
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Top Publications
Risteli, M, Ruotsalainen, H, Salo, AM, Sormunen, R, Sipilä, L, Baker, NL, Lamandé, SR, Vimpari-Kauppinen, L, Myllylä, R.
Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix*.
Journal of Biological Chemistry
284(41)
:
28204 -28211
2009
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Ishida, Y, Yamamoto, A, Kitamura, A, Lamandé, SR, Yoshimori, T, Bateman, JF, Kubota, H, Nagata, K.
Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection.
Molecular Biology of the Cell
20(11)
:
2744 -2754
2009
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Allen, JM, Zamurs, L, Brachvogel, B, Schlötzer-Schrehardt, U, Hansen, U, Lamandé, SR, Rowley, L, Fitzgerald, J, Bateman, JF.
Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function*.
Journal of Biological Chemistry
284(18)
:
12020 -12030
2009
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Bateman, JF, Boot-Handford, RP, Lamandé, SR.
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
Nature Reviews Genetics
10(3)
:
173 -183
2009
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