PACSIN proteins in vivo: Roles in development and physiology

V Dumont, S Lehtonen - Acta Physiologica, 2022 - Wiley Online Library
Protein kinase C and casein kinase substrate in neurons (PACSINs), or syndapins (synaptic
dynamin‐associated proteins), are a family of proteins involved in the regulation of cell …

Pathophysiological Roles of the TRPV4 Channel in the Heart

S Chaigne, S Barbeau, T Ducret, R Guinamard… - Cells, 2023 - mdpi.com
The transient receptor potential vanilloid 4 (TRPV4) channel is a non-selective cation
channel that is mostly permeable to calcium (Ca2+), which participates in intracellular Ca2+ …

Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants

SH Berth, L Vo, DH Kwon, T Grider, YS Damayanti… - Brain, 2025 - academic.oup.com
Dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor
potential vanilloid 4) cause diverse and largely distinct channelopathies, including inherited …

TRPV4 Channel in Neurological Disease: from Molecular Mechanisms to Therapeutic Potential

F Zhang, H Mehta, HH Choudhary, R Islam… - Molecular …, 2024 - Springer
Abstract Transient Receptor Potential Vanilloid 4 (TRPV4) is a non-selective cation channel
with pivotal roles in various physiological processes, including osmosensitivity …

TRPV4: A trigger of pathological RhoA activation in neurological disease

AM Bagnell, CJ Sumner, BA McCray - BioEssays, 2022 - Wiley Online Library
Transient receptor potential vanilloid 4 (TRPV4), a member of the TRP superfamily, is a
broadly expressed, cell surface‐localized cation channel that is activated by a variety of …

Role of TRPV4 in skeletal function and its mutant-mediated skeletal disorders

R Das, C Goswami - Current Topics in Membranes, 2022 - Elsevier
TRPV4 is a non-selective cation channel that belongs to the TRP super family. This channel
can be activated by physiological temperatures and mechanical stimuli. In addition, TRPV4 …

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

GP Kosmanopoulos, JK Donohue, M Hoke, S Thomas… - Brain, 2025 - academic.oup.com
Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause
Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular …

The effect of acupuncture on pain and swelling of arthritis animal models: A systematic review and meta-analysis

WL Yu, SN Kim - Frontiers in Genetics, 2023 - frontiersin.org
Arthritis, the inflammation of joints, attributes to the patient's pain, joint deformation, and
limited range of motion. Emerging studies have shown the effects of acupuncture on different …

Cytochrome C interacts with the pathogenic mutational hotspot region of TRPV4 and forms complexes that differ in mutation and metal ion-sensitive manner

R Das, A Kumar, R Dalai, C Goswami - Biochemical and Biophysical …, 2022 - Elsevier
The importance of TRPV4 in physiology and disease has been reported by several groups.
Recently we have reported that TRPV4 localizes in the mitochondria in different cellular …

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

G Ürel-Demir, PÖ Şimşek-Kiper, İ Öncel… - European Journal of …, 2021 - Elsevier
TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including
several genetic skeletal and neuromuscular disorders, in which clinical variability and …