Blake PW, Toro JR

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Hum Mutat 30:1025-36 (2009)
DOI:10.1002/humu.21024

Young AL, Kellermayer R, Szigeti R, Teszas A, Azmi S, Celebi JT

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.

Clin Genet 70:246-9 (2006)
DOI:10.1111/j.1399-0004.2006.00667.x

Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Brain 143:783-799 (2020)
DOI:10.1093/brain/awaa039