Vita Publications

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2025-02-25
09:27
DBCoverage [DZNE-2025-00368] Journal Article
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Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
PLoS Genetics 13(7), e1006897 () [10.1371/journal.pgen.1006897]
Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. [...]

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2025-02-25
09:26
pmc [DZNE-2025-00367] Journal Article
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Mosaic expression of claudins in thick ascending limbs of Henle results in spatial separation of paracellular Na+ and Mg2+ transport.
The thick ascending limb (TAL) of Henle's loop drives paracellular Na+, Ca2+, and Mg2+ reabsorption via the tight junction (TJ). The TJ is composed of claudins that consist of four transmembrane segments, two extracellular segments (ECS1 and -2), and one intracellular loop. [...]

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2025-02-25
09:25
[DZNE-2025-00366] Journal Article (Review Article)
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One gene, two paracellular ion channels—claudin-10 in the kidney
Pflügers Archiv 469(1), 115 - 121 () [10.1007/s00424-016-1921-7]
Claudins are tight junction membrane proteins and regulate the paracellular passage of ions and water. They can seal the paracellular cleft against solute passage but also form paracellular channels. [...]

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2025-02-25
09:24
DBCoverage [DZNE-2025-00365] Journal Article
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Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.
JBC papers in press 292(3), 786 - 801 () [10.1074/jbc.M116.759944]
Phosphatases of regenerating liver (PRLs), the most oncogenic of all protein-tyrosine phosphatases (PTPs), play a critical role in metastatic progression of cancers. Recent findings established a new paradigm by uncovering that their association with magnesium transporters of the cyclin M (CNNM) family causes a rise in intracellular magnesium levels that promote oncogenic transformation. [...]

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2025-02-25
09:24
[DZNE-2025-00364] Journal Article
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Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in amelogenesis imperfecta (AI) in the 5 studied patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). [...]

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2025-02-25
09:23
[DZNE-2025-00363] Journal Article
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Role of Sortilin in Models of Autoimmune Neuroinflammation
The journal of immunology 195(12), 5762 - 5769 () [10.4049/jimmunol.1403156]
The proneurotrophin receptor sortilin is a protein with dual functions, being involved in intracellular protein transport, as well as cellular signal transduction. The relevance of the receptor for various neuronal disorders, such as dementia, seizures, and brain injury, is well established. [...]

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2025-02-25
09:22
DBCoverage [DZNE-2025-00362] Journal Article
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Sortilin-related receptor SORCS3 is a postsynaptic modulator of synaptic depression and fear extinction.
PLOS ONE 8(9), e75006 () [10.1371/journal.pone.0075006]
SORCS3 is an orphan receptor of the VPS10P domain receptor family, a group of sorting and signaling receptors central to many pathways in control of neuronal viability and function. SORCS3 is highly expressed in the CA1 region of the hippocampus, but the relevance of this receptor for hippocampal activity remained absolutely unclear. [...]

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2025-02-25
09:22
[DZNE-2025-00361] Journal Article
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The sorting receptor Sortilin exhibits a dual function in exocytic trafficking of interferon-γ and granzyme A in T cells.
Immunity 37(5), 854 - 866 () [10.1016/j.immuni.2012.07.012]
Immunological control of infections or tumors depends on the release of effector cytokines and polarized secretion of cytotoxic granules from T cells and natural killer cells. Here we show that the sorting receptor Sortilin controlled both processes. [...]

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2025-02-25
09:21
pmc [DZNE-2025-00360] Journal Article
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Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis.
In the kidney, tight junction proteins contribute to segment specific selectivity and permeability of paracellular ion transport. In the thick ascending limb (TAL) of Henle's loop, chloride is reabsorbed transcellularly, whereas sodium reabsorption takes transcellular and paracellular routes. [...]

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2025-02-25
09:21
[DZNE-2025-00359] Journal Article
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Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.
Cell metabolism 12(3), 213 - 223 () [10.1016/j.cmet.2010.08.006]
Recent genome-wide association studies (GWAS) have revealed strong association of hypercholesterolemia and myocardial infarction with SNPs on human chromosome 1p13.3. This locus covers three genes: SORT1, CELSR2, and PSRC1. [...]

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