Associated Papers
Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations.
Loder AK et al.
The Journal of Biological Chemistry, 2026
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH et al.
Brain : a Journal of Neurology, 2025
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP et al.
Brain : a Journal of Neurology, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center Study.
Milanovic F et al.
Children (basel, Switzerland), 2024
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sullivan JM et al.
Science Translational Medicine, 2024
Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII.
Wang F et al.
Frontiers in Pediatrics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Chen H et al.
Bmc Neurology, 2023
Structure of human TRPV4 in complex with GTPase RhoA.
Nadezhdin KD et al.
Nature Communications, 2023
TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease.
Kwon DH et al.
Nature Communications, 2023
Structural insights into TRPV4-Rho GTPase signaling complex function and disease.
Kwon DH et al.
Biorxiv : the Preprint Server for Biology, 2023
Multiubiquitination of TRPV4 reduces channel activity independent of surface localization.
Aisenberg WH et al.
The Journal of Biological Chemistry, 2022
TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
Taga A et al.
Annals of Clinical and Translational Neurology, 2022
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.
McCray BA et al.
Nature Communications, 2021
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2.
Woolums BM et al.
Nature Communications, 2020
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S et al.
Neuromolecular Medicine, 2020
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
Faye E et al.
Molecular Syndromology, 2019
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.
Velilla J et al.
Neurology. Genetics, 2019
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Genetic heterogeneity of motor neuropathies.
Bansagi B et al.
Neurology, 2017
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
Sullivan JM et al.
Neurology. Genetics, 2015
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.
Koutsis G et al.
Journal of Neurology, 2015
Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
Vill K et al.
Neuropediatrics, 2015