Protein Disease Associations

Protein disease associations are links between specific proteins and pathological states, revealing how changes in protein sequence, abundance, localization, or activity can contribute to disease. These relationships arise when mutations alter folding or function, regulation changes protein levels, or misfolded proteins aggregate and disrupt cellular processes, including signaling, transport, and protein degradation. In biochemistry, mapping these associations helps researchers connect molecular defects to disease phenotypes, identify biomarkers, and prioritize proteins for therapeutic intervention. Experimental and computational approaches can also clarify disease mechanisms and support the development of diagnostic assays or treatments that restore protein function or limit harmful interactions.

Protein Disease Associations - Related Videos

Research

JoVE Journal - Neuroscience
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Mapping Dysfunctional Protein-Protein Interactions in Disease

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2025

Here, we present a protocol to enable the capture and identification of disease-specific protein-protein interactions from native cells and tissues using chemical probes and mass spectrometry. The resulting interaction datasets are analyzed through a dedicated web-based platform to reveal dynamic network dysfunctions and pathway alterations linked to disease.

Education

JoVE Science Education - Psychology
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The Implicit Association Test

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2023

Source: Julian Wills & Jay Van Bavel—New York University One of the core constructs in social psychology is the notion of an attitude toward an object or person. Traditionally, psychologists measured attitudes by simply asking people to self-report their beliefs, opinions, or feelings. This approach has limitations, however, when measuring socially sensitive attitudes, like racial prejudice, because people are often motivated to self-report unprejudiced, egalitarian beliefs (despite...

Research

JoVE Journal - Biology
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Interview: Protein Folding and Studies of Neurodegenerative Diseases

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Cited by 2 •

2008

In this interview, Dr. Lindquist describes relationships between protein folding, prion diseases and neurodegenerative disorders. The problem of the protein folding is at the core of the modern biology. In addition to their traditional biochemical functions, proteins can mediate transfer of biological information and therefore can be considered a genetic material. This recently discovered function of proteins has important implications for studies of human disorders. Dr. Lindquist also...

Research

JoVE EoE - Biomolecular Interaction Detection Techniques

Yeast Two-Hybrid Assay to Determine Protein Self-Association in Yeast Cells

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2025

This video demonstrates the yeast two-hybrid assay to detect specific protein self-interactions. In this assay, the protein of interest is tagged to two domains of a transcription factor that encodes the β-galactosidase enzyme. When the two proteins interact, this causes transcription and translation to form the enzyme, which is then detected using a biochemical assay.

An Overview of Genetics and Disease

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2023

Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and...

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