Article

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

2017-09-04

Abstract excerpt

<h4>Background: </h4> X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 ( UBA1 ). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of the UBA1 gene, which contains the active adenylation domain (A...

Topics

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

Identifiers and source

Literature Corpus work: 736d904f-26f7-5813-bec0-c19f15d06c37
DOI: 10.12688/f1000research.11878.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular AtrophyDOI 10.12688/f1000research.11878.1Read

Shared and Distinct Mechanisms of UBA1 Inactivation Across Different DiseasesSemantic proximity Read

Shared and distinct mechanisms of UBA1 inactivation across different diseasesSemantic proximity Read

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular AtrophySemantic proximity Read

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.Semantic proximity Read

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of <i>ADSS1</i> myopathySemantic proximity Read

UBA1: At the Crossroads of Ubiquitin Homeostasis and NeurodegenerationSemantic proximity Read

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.Semantic proximity Read

Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.Semantic proximity Read

Polyalanine disease mutations impair UBA6-dependent ubiquitinationSemantic proximity Read

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.Semantic proximity Read

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.Semantic proximity Read

The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complexSemantic proximity Read