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Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
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...
Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

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Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: Jun 12, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

A mutation database for amyotrophic lateral sclerosis.

Makiko Yoshida1, Yuji Takahashi, Asako Koike

  • 1Central Research Laboratory, Hitachi, Ltd., Higashi-Koigakubo, Tokyo, Japan. makiko.yoshida.yj@hitachi.com

Human Mutation
|June 18, 2010
PubMed
Summary
This summary is machine-generated.

A new online database compiles genetic variants and clinical data for amyotrophic lateral sclerosis (ALS), offering a valuable resource for researchers studying this neurodegenerative disease.

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A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins
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A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Published on: April 30, 2018

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)
12:35

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)

Published on: March 17, 2012

Related Experiment Videos

Last Updated: Jun 12, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins
08:37

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

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Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)
12:35

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)

Published on: March 17, 2012

Area of Science:

  • Genetics and Genomics
  • Neuroscience
  • Bioinformatics

Background:

  • Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with complex genetic underpinnings.
  • A comprehensive, integrated resource for ALS-associated genetic variants and clinical data is lacking.
  • Understanding genotype-phenotype correlations is crucial for ALS research and clinical management.

Purpose of the Study:

  • To establish a publicly accessible online database for amyotrophic lateral sclerosis (ALS) genetic variants.
  • To integrate nucleotide and amino acid variants with corresponding clinical conditions and gene information.
  • To facilitate research into ALS mechanisms and aid clinical practice through comprehensive data aggregation.

Main Methods:

  • Construction of a curated online database compiling published and novel ALS-associated genetic variants.
  • Inclusion of data from literature and microarray resequencing studies.
  • Development of a homology search function for variant identification and comparison.

Main Results:

  • The database contains over 600 entries, including approximately 180 unique variants across 25 ALS-related genes.
  • Each gene page provides detailed information on variation positions, statistics, clinical characteristics, and references.
  • Gene-sequence and protein-structure data are included to aid in assessing variant significance.

Conclusions:

  • The ALS mutation database serves as an essential integrated resource for genetic and clinical data.
  • This resource is expected to advance the understanding of ALS pathogenesis and potential therapeutic strategies.
  • Open data submission encourages collaborative research and continuous expansion of the database.