Related Experiment Video

Updated: Aug 18, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

[Clinical and biochemical heterogeneity of the Lesch-Nyhan syndrome]

A M Shaposhnikov, L A Aleksandrova

    Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (Moscow, Russia : 1952)
    |January 1, 1979
    PubMed

    More Related Videos

    Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains09:27

    Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains

    Published on: January 5, 2016

    Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

    Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

    Published on: March 23, 2022

    Related Concept Videos

    Lysosomal Hydrolases01:22

    Lysosomal Hydrolases

    Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
    Lethal Alleles02:41

    Lethal Alleles

    Agouti: A Lethal Allele
    Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
    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...
    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,...