Article

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

2022-05-02

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the copy number of SMN2 , a nearly identical gene, which produces only low amounts of full-length (FL) mRNA. Here we describe the first example of retrotransposon inserti...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c3878df0-7e63-5bf8-8b24-7a5fdb81a1bb
DOI: 10.22541/au.165148206.60784229/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophyDOI 10.22541/au.165148206.60784229/v1Read

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.Semantic proximity Read

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophySemantic proximity Read

Comprehensive Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular AtrophySemantic proximity Read

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.Semantic proximity Read

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.Semantic proximity Read

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.Semantic proximity Read

Discrepancy in redetermination of SMN2 copy numbers in children with SMASemantic proximity Read

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.Semantic proximity Read

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 TranscriptsSemantic proximity Read

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNASemantic proximity Read

Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophySemantic proximity Read