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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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