Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).

PLoS genetics - 1 Jan 2013

Bercier Valérie, Brustein Edna, Liao Meijiang, Dion Patrick A, Lafrenière Ronald G, Rouleau Guy A, Drapeau Pierre

Abstract excerpt

Hereditary sensory and autonomic neuropathy type 2 (HSNAII) is a rare pathology characterized by an early onset of severe sensory loss (all modalities) in the distal limbs. It is due to autosomal recessive mutations confined to exon "HSN2" of the WNK1 (with-no-lysine protein kinase 1) serine-threonine kinase. While this kinase is well studied in the kidneys, little is known about its role in the nervous system....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hereditary Sensory and Autonomic Neuropathies
Share to Minor Histocompatibility Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Morpholinos

Share to Peripheral Nervous System

Share to Symporters

Share to Transcriptional Activation

Share to WNK Lysine-Deficient Protein Kinase 1

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 23300475
DOI: 10.1371/journal.pgen.1003124
PMCID: PMC3536653

Genes

WNK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).PMID 23300475Read ↗

WNK1/HSN2 Regulates Neural Development via GSK3βSemantic proximity Read ↗

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.Semantic proximity Read ↗

Expression pattern analysis and characterization of the hereditary sensory and autonomic neuropathy 2 A (HSAN2A) gene with no lysine kinase (WNK1) in human dorsal root ganglionSemantic proximity Read ↗

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.Semantic proximity Read ↗

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.Semantic proximity Read ↗

WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.Semantic proximity Read ↗

Human hypertension caused by mutations in WNK kinases.Semantic proximity Read ↗

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.Semantic proximity Read ↗

With no lysine L-WNK1 isoforms are negative regulators of the K+-Cl- cotransporters.Semantic proximity Read ↗

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.Semantic proximity Read ↗

WNK signaling is involved in neural development via Lhx8/Awh expression.Semantic proximity Read ↗

(WNK)ing at death: With-no-lysine (Wnk) kinases in neuropathies and neuronal survival.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.