Related Experiment Video

Updated: Aug 19, 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

[Apropos of the molecular biology of Huntington's chorea]

J Frézal, M L Briard, J Kaplan

    Journal De Genetique Humaine
    |June 1, 1985
    PubMed

    Abstract:

    The authors analyze some aspects of the two families published by Gusella and al. (linkage between H.D. gene and a RLPF) and underline the cases unable to be diagnosed because non-informative sibships. They emphasize the new ethics problems risen by the discovery of this linkage.

    More Related Videos

    Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
    11:22

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

    Published on: June 27, 2018

    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

    Related Experiment Videos

    Last Updated: Aug 19, 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

    Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
    11:22

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

    Published on: June 27, 2018

    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

    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,...

    Articles linked to this work by shared authors, journal, and citation graph.

    The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

    Human genetics·2000

    Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database.

    Molecular genetics and metabolism·1999

    Genatlas database, genes and development defects.

    Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie·1998

    The role of the SMN gene in proximal spinal muscular atrophy.

    Human molecular genetics·1998

    Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

    Annals of human genetics·1997

    A metric map of humans: 23,500 loci in 850 bands.

    Proceedings of the National Academy of Sciences of the United States of America·1996

    [Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

    Journal de genetique humaine·1989

    [Genetic mapping of chromosome X: known localizations].

    Journal de genetique humaine·1989

    [Animal models of gene therapy].

    Journal de genetique humaine·1989

    [Frontonasal dysplasia or the median cleft face syndrome: a case report].

    Journal de genetique humaine·1989

    [Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

    Journal de genetique humaine·1989

    [F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

    Journal de genetique humaine·1989

    Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.

    Translational neurodegeneration·2026

    Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

    American journal of human genetics·2026

    Parent-of-origin dependent allelic regulation of social behaviors in mice by noncanonically imprinted monoamine synthesis genes.

    Genetics·2026

    Identification of Four Novel HLA-C Alleles.

    HLA·2026

    Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency.

    medRxiv : the preprint server for health sciences·2026

    Circulating asparagine and short stature: A case-control study and exploratory two-sample Mendelian randomization analysis.

    Medicine·2026
    See all related articles
    JoVE
    x logofacebook logolinkedin logoyoutube logo
    ABOUT JoVE
    OverviewLeadershipBlogJoVE Help Center
    AUTHORS
    Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
    LIBRARIANS
    TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
    RESEARCH
    JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
    EDUCATION
    JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
    Terms & Conditions of Use
    Privacy Policy
    Policies
    Jove
    Visualize
    Contact Us