Article

A scalable genetic tool for the functional analysis of the signal recognition particle

2024-07-20

Abstract excerpt

Mutations in the SRP54 gene are linked to the pathophysiology of severe congenital neutropenia (SCN). SRP54 is a key protein comprising one of the six protein subunits of the signal recognition particle responsible for co-translational targeting of proteins to the ER; mutations in SRP54 disrupt this process. Crystal structures and biochemical characterization of a few SRP54 mutants provide insights into how S...

Topics

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

Identifiers and source

Literature Corpus work: 8fe8ff4e-4517-5da1-be2e-6f49bdcbea99
DOI: 10.1101/2024.07.20.602779

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A scalable genetic tool for the functional analysis of the signal recognition particleDOI 10.1101/2024.07.20.602779Read

A scalable genetic tool for the functional analysis of the signal recognition particle.Semantic proximity Read

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.Semantic proximity Read

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.Semantic proximity Read

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.Semantic proximity Read

Cellular Traffic Jam and Disease Due to Mutations in SRP54.Semantic proximity Read

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.Semantic proximity Read

Exploration of essential gene functions via titratable promoter alleles.Semantic proximity Read

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.Semantic proximity Read

The signal recognition particle in S. cerevisiae.Semantic proximity Read

Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.Semantic proximity Read

Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.Semantic proximity Read

Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of GlycosylationSemantic proximity Read