Work

Romancing the Spliceosome to Fight Spinal Muscular Atrophy

Year: 2014

Type: article

Abstract: Spinal muscular atrophy is caused by homozygous mutation of SMN1. There are several potential approaches to tweaking SMN2 messenger RNA, to raise SMN protein levels to therapeutic levels. One such approach involves small molecules.

Source: New England Journal of Medicine

DOI: 10.1056/nejmcibr1409795

Author: Kathryn J. Swoboda

Institution: University of Utah

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: Newborn screening for identification & prospective followup of infants with SMA

OpenAlex ID: W2009640755

FWCI:

Cites: 5

Cited by: 6

Related to: 10