Spinal muscular atrophy treatment in utero
Tag: Motor neuron disease
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, t…
Targeting MDM2 affects spastin protein levels and functions: implications for HSP treatment
Spastin is a microtubule (MT) severing enzyme that regulates several cell functions associated with MT dynamics. A reduction in spastin protein lev…