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GlossaryPlakophilin-1

protein crucial for cell adhesion in skin and hair

Plakophilin-1 (PKP1) is a protein that plays a crucial role in the formation and maintenance of desmosomes, which are structures that help cells stick together, particularly in tissues that experience a lot of stress, like the skin and heart. Mutations in the gene encoding Plakophilin-1 can lead to skin disorders and hair loss conditions, such as ectodermal dysplasia/skin fragility syndrome, highlighting its importance in maintaining the integrity of epithelial tissues.

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research Folliculin Interacts With P0071 (Plakophilin-4) and Deficiency Is Associated With Disordered RhoA Signalling, Epithelial Polarization, and Cytokinesis

47 citations, September 2012 in “Human molecular genetics online/Human molecular genetics”

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation

60 citations, July 2014 in “Autophagy”

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights

7 citations, September 2013 in “Familial cancer”

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

72 citations, November 2012 in “PloS one”

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome

29 citations, January 2021 in “Translational Psychiatry”

The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.

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