Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Bowling, Alyssa; Eastman, Alice; Merlo, Christian; Lin, Gabrielle; West, Natalie; Patel, Shivani; Cutting, Garry; Sharma, Neeraj

Bowling, Alyssa; Eastman, Alice; Merlo, Christian; Lin, Gabrielle; West, Natalie; Patel, Shivani; Cutting, Garry; Sharma, Neeraj.

Afiliación

Bowling A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Eastman A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Merlo C; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
Lin G; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
West N; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
Patel S; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
Cutting G; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Sharma N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

J Pers Med ; 12(9)2022 Sep 01.

Article en En | MEDLINE | ID: mdl-36143233