Related Experiment Video

Updated: Jan 30, 2026

Mechanism of Kemeng Fang's Inhibition of Podocyte Apoptosis in Rats with Membranous Nephropathy through the PI3K/AKT Signaling Pathway
07:15

Mechanism of Kemeng Fang's Inhibition of Podocyte Apoptosis in Rats with Membranous Nephropathy through the PI3K/AKT Signaling Pathway

Published on: August 23, 2024

943

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Anderson Rodrigues Brandão de Paiva1, David S Lynch1, Uirá Souto Melo1

  • 1Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.

Neurology. Genetics
|January 31, 2019
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities09:38

Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities

Published on: January 29, 2014

11.3K
Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis08:11

Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis

Published on: November 14, 2016

11.6K

Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
729
Mutations01:39

Mutations

Overview
94.5K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Learning Disabilities01:25

Learning Disabilities

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
610
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.1K