Back to search

Article

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease

2017-04-24

Abstract excerpt

Post-translational modifications (PTMs) are key modulators of protein function. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin ( HTT ) gene. A spectrum of PTMs have been shown to modify the normal functions of HTT, including proteolysis, phosphorylation and lipidation, but the full contribution of these PTMs to the mole...

Topics

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

Identifiers and source

Literature Corpus work
a46b34f3-b732-5b9d-8f2a-f7f69d8cfcac
DOI
10.1101/129536
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington diseaseDOI 10.1101/129536
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.Semantic proximity
How Do Post-Translational Modifications Influence the Pathomechanistic Landscape of Huntington's Disease? A Comprehensive Review.Semantic proximity
Post-translational modifications clustering within proteolytic domains decrease mutant huntingtin toxicity.Semantic proximity
Current Technologies Unraveling the Significance of Post-Translational Modifications (PTMs) as Crucial Players in NeurodegenerationSemantic proximity
Huntington disease: Advances in the understanding of its mechanismsSemantic proximity
A Review On Huntington Protein: Insight Into Protein Aggregation and Therapeutic Interventions.Semantic proximity
Phosphoproteomic profiling reveals post-translational dysregulation in Huntington’s disease patient-derived neuronsSemantic proximity
Structure-function dissection of huntingtin exon 1 identifies a PRD-driven modifier of neuronal toxicity in Huntington’s diseaseSemantic proximity
Polyglutamine aggregation in Huntington and related diseases.Semantic proximity
Site-Specific Phosphorylation of Huntingtin Exon 1 Recombinant Proteins Enabled by the Discovery of Novel Kinases.Semantic proximity
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.Semantic proximity
Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.Semantic proximity
Select a neighboring publication to make it the new centre.