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Related Concept Videos

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 reduced penetrance,...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...

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Related Experiment Video

Updated: May 19, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Huntington's disease: dancing in a dish.

Kejing Zhang1, Fei Yi, Guang-Hui Liu

  • 1Gene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.

Cell Research
|August 8, 2012
PubMed
Summary

Researchers have created induced pluripotent stem cell (iPSC) lines from Huntington's disease (HD) patients, successfully modeling the disease in vitro. Gene correction in these human iPSC lines offers new avenues for Huntington's disease research and potential treatments.

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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

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Related Experiment Videos

Last Updated: May 19, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

Area of Science:

  • Neuroscience
  • Stem Cell Biology
  • Genetics

Background:

  • Huntington's disease (HD) is a devastating neurodegenerative disorder with limited treatment options.
  • Induced pluripotent stem cells (iPSCs) offer a powerful tool for disease modeling and drug discovery.
  • Previous research has faced challenges in effectively modeling HD in vitro.

Purpose of the Study:

  • To establish and characterize a panel of iPSC lines from Huntington's disease patients.
  • To successfully model Huntington's disease in vitro using patient-derived iPSCs.
  • To demonstrate targeted gene correction of the Huntington's disease mutation in human iPSCs.

Main Methods:

  • Generation and differentiation of iPSC lines from Huntington's disease patients.
  • In vitro modeling of Huntington's disease phenotypes using patient-derived iPSCs.
  • CRISPR-Cas9 based targeted gene correction of the HD mutation in human iPSCs.

Main Results:

  • A comprehensive panel of characterized iPSC lines from HD patients was established.
  • Successful in vitro modeling of key Huntington's disease pathological features was achieved.
  • Targeted gene correction of the HD mutation in human iPSCs was successfully demonstrated.

Conclusions:

  • These advances provide invaluable resources for Huntington's disease research.
  • In vitro HD modeling using iPSCs opens new avenues for understanding disease mechanisms.
  • Targeted gene correction in iPSCs represents a significant step towards potential therapeutic strategies for Huntington's disease.