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LAING , N. G.

Last name: LAING

First name: N. G.

May 24, 2019 (v1)

Publication

Metadata-only

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián Morilla, Emilia Cabrera Serrano, Macarena Carvajal, A.

TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is associated with a multisystemic disorder without myopathy (Bardet-Biedl syndrome type11), suggesting...

Uploaded on: March 27, 2023