Next Article in Journal
Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen
Next Article in Special Issue
The Blood–Brain Barrier and Its Intercellular Junctions in Age-Related Brain Disorders
Previous Article in Journal
In Vitro and In Vivo Pipeline for Validation of Disease-Modifying Effects of Systems Biology-Derived Network Treatments for Traumatic Brain Injury—Lessons Learned
Previous Article in Special Issue
Structure and Junctional Complexes of Endothelial, Epithelial and Glial Brain Barriers
Open AccessReview

A Novel Claudinopathy Based on Claudin-10 Mutations

Institute of Physiology, Kiel University, Christian-Albrechts-Platz 4, 24118 Kiel, Germany
Int. J. Mol. Sci. 2019, 20(21), 5396; https://doi.org/10.3390/ijms20215396
Received: 15 October 2019 / Revised: 26 October 2019 / Accepted: 27 October 2019 / Published: 30 October 2019
(This article belongs to the Special Issue The Tight Junction and Its Proteins: More Than Just a Barrier)
Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the CLDN10 gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations. View Full-Text
Keywords: tight junction; paracellular permeability; paracellular sodium transport; thick ascending limb; nephropathy; HELIX syndrome; hypokalemia; hypermagnesemia; anhidrosis; gland dysfunction tight junction; paracellular permeability; paracellular sodium transport; thick ascending limb; nephropathy; HELIX syndrome; hypokalemia; hypermagnesemia; anhidrosis; gland dysfunction
Show Figures

Figure 1

MDPI and ACS Style

Milatz, S. A Novel Claudinopathy Based on Claudin-10 Mutations. Int. J. Mol. Sci. 2019, 20, 5396.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop