Editors' ChoiceMEDICINE

Papers of note in Science Translational Medicine

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Science Signaling  05 Apr 2016:
Vol. 9, Issue 422, pp. ec82
DOI: 10.1126/scisignal.aaf8028


PI3K-ing the best treatment

PIK3CA mutations induce venous malformations.

P. Castel, F. J. Carmona, J. Grego-Bessa, M. F. Berger, A. Viale, K. V. Anderson, S. Bague, M. Scaltriti, C. R. Antonescu, E. Baselga, J. Baselga, Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci. Transl. Med. 8, 332ra42 (2016). [Abstract]

S. D. Castillo, E. Tzouanacou, M. Zaw-Thin, I. M. Berenjeno, V. E. R. Parker, I. Chivite, M. Milà-Guasch, W. Pearce, I. Solomon, A. Angulo-Urarte, A. M. Figueiredo, R. E. Dewhurst, R. G. Knox, G. R. Clark, C. L. Scudamore, A. Badar, T. L. Kalber, J. Foster, D. J. Stuckey, A. L. David, W. A. Phillips, M. F. Lythgoe, V. Wilson, R. K. Semple, N. J. Sebire, V. A. Kinsler, M. Graupera, B. Vanhaesebroeck, Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. Sci. Transl. Med. 8, 332ra43 (2016) [Abstract]


Neuronal HSPGs lay a trap for amyloid

Deleting neuronal heparan sulfates in a mouse model of Alzheimer’s disease results in faster Aβ clearance, reduced Aβ aggregation, and less amyloid pathology.

C.-C. Liu, N. Zhao, Y. Yamaguchi, J. R. Cirrito, T. Kanekiyo, D. M. Holtzman, G. Bu, Neuronal heparan sulfates promote amyloid pathology by modulating brain amyloid-β clearance and aggregation in Alzheimer’s disease. Sci. Transl. Med. 8, 332ra44 (2016). [Abstract]


Guarding inflammation

A mutation in pyrin that disrupts regulation leads to autoinflammatory disease.

S. L. Masters, V. Lagou, I. Jéru, P. J. Baker, L. Van Eyck, D. A. Parry, D. Lawless, D. De Nardo, J. E. Garcia-Perez, L. F. Dagley, C. L. Holley, J. Dooley, F. Moghaddas, E. Pasciuto, P.-Y. Jeandel, R. Sciot, D. Lyras, A. I. Webb, S. E. Nicholson, L. De Somer, E. van Nieuwenhove, J. Ruuth-Praz, B. Copin, E. Cochet, M. Medlej-Hashim, A. Megarbane, K. Schroder, S. Savic, A. Goris, S. Amselem, C. Wouters, A. Liston, Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci. Transl. Med. 8, 332ra45 (2016). [Abstract]

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