Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.

Authors :: Taiana M
Govoni A
Salani S
Kleinschmidt N
Galli N
Saladini M
Ghezzi SB
Melzi V
Bersani M
Del Bo R
Muehlemann O
Bertini E
Sansone V
Albamonte E
Messina S
Mari F
Cesaroni E
Porfiri L
Tiziano FD
Vita GL
Sframeli M
Bonanno C
Bresolin N
Comi G
Corti S
Nizzardo M
Source :: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2022 Aug; Vol. 93 (8), pp. 908-910. Date of Electronic Publication: 2022 Jan 27.
Publication Year :: 2022
Abstract: Competing Interests: Competing interests: None declared.

Subjects :: Humans
Infant, Newborn
Nonsense Mediated mRNA Decay genetics
Muscular Atrophy, Spinal genetics
Respiratory Distress Syndrome, Newborn

Full Text Access

Tools