Journal article

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

Hilda TH Tsang, Thomas L Edwards, Xinnan Wang, James W Connell, Rachel J Davies, Hannah J Durrington, Cahir J O'Kane, J Paul Luzio, Evan Reid



The hereditary spastic paraplegias (HSPs) are genetic conditions characterized by distal axonopathy of the longest corticospinal tract axons, and so their study provides an important opportunity to understand mechanisms involved in axonal maintenance and degeneration. A group of HSP genes encode proteins that localize to endosomes. One of these is NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) and we have shown recently that its Drosophila homologue spichthyin inhibits bone morphogenic protein (BMP) signalling, although the relevance of this finding to the mammalian protein was not known. We show here that mammalian NIPA1 is also an inhibitor of BMP signalling. NIPA1 physically in..

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Awarded by Wellcome Trust

Awarded by Medical Research Council

Funding Acknowledgements

This work was supported by the Wellcome Trust (a Senior Research Fellow in Clinical Science 082381 to E. R., a Strategic Award 079895 to Cambridge Institute for Medical Research); the Tom Wahlig Stiftung (to E. R.); and the Medical Research Council (G9310915 to J. P. L.). HTHT was supported by a Croucher Foundation Scholarship. HTHT and TLE were supported by UK government ORS awards and by the Cambridge Commonwealth Trust. TLE was supported by a Sackler Fellowship. Funding to pay the Open Access publication charges for this article was provided by the Wellcome Trust.