相关实验视频

Updated: May 6, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

10.0K

由于与亨廷顿病相关的LIG1 K845N变异导致识别和结效率受损

Jacob Ratcliffe1, Camden E Lerner1, Kanal Balu1

  • 1Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, FL 32610, United States.

NAR molecular medicine
|December 5, 2025
PubMed
概括

亨廷顿病相关的DNA结合酶1 (LIG1) 中的K845N突变损害了它有效地密封DNA裂并与DNA结合的能力. 这表明LIG1的新机制.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy11:22

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

Published on: June 27, 2018

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相关概念视频

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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