Results 61 to 70 of about 2,388 (162)

Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

PLoS ONE, 2014
Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or without systemic and/or other ocular abnormalities.
Thomas M Bennett, Donna S Mackay, Carla J Siegfried, Alan Shiels   +3 more
doaj   +1 more source

Identification of transient receptor potential melastatin 3 proteotypic peptides employing an efficient membrane protein extraction method for natural killer cells

Frontiers in Physiology, 2022
Introduction: Mutations and misfolding of membrane proteins are associated with various disorders, hence they make suitable targets in proteomic studies.
Chandi T. Magawa, Chandi T. Magawa, Natalie Eaton-Fitch, Natalie Eaton-Fitch, Cassandra Balinas, Cassandra Balinas, Etianne Martini Sasso, Etianne Martini Sasso, Etianne Martini Sasso, Kiran Thapaliya, Kiran Thapaliya, Leighton Barnden, Leighton Barnden, Rebekah Maksoud, Rebekah Maksoud, Rebekah Maksoud, Breanna Weigel, Breanna Weigel, Breanna Weigel, Penny A. Rudd, Lara J. Herrero, Sonya Marshall-Gradisnik, Sonya Marshall-Gradisnik   +22 more
doaj   +1 more source

Migraine: Epidemiology, Risk Factors, Pathophysiology, and Treatment

MedComm, Volume 7, Issue 9, September 2026.
Migraine is a highly prevalent, female‐predominant, and disabling brain disorder shaped by genetic susceptibility, hormonal influences, modifiable attack factors, and comorbidity‐related progression. This review integrates current evidence on migraine epidemiology, phase‐specific neurovascular and neuroglial mechanisms, including CGRP signaling and ...
Weiwei Lu, Yuan Zhang, Chen Shi, Yu Tao, Shaoxin Li, Yufang Sun, Fuhai Ji, Dongsheng Jiang, Terrance P. Snutch, Jin Tao   +9 more
wiley   +1 more source

Phenotype Spectrum of TRPM3‐Associated Disorders

Annals of Neurology
ObjectiveMonoallelic variants in the transient receptor potential melastatin‐related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of ...
Laura Jolitz, Ingo Helbig, Mark P. Fitzgerald, Sarah McKeown Ruggiero, Stacey Cohen, Chloe Angelini, Elena Vallespin, Vincent Michaud, Anna Gerasimenko, Benjamin Cogne, Bertrand Isidor, Boris Keren, David Dyment, Delphine Heron, Helena Gásdal Karstensen, Inge Cuppen, John Christodoulou, Meredith Wilson, Nicole J. Lake, Saskia Biskup, Steffen Syrbe, Takayasu Mori, Lena‐Luise Becker, Angela M. Kaindl   +23 more
openaire   +2 more sources

Muscarinic acetylcholine type 1 receptor antagonism activates TRPM3 to augment mitochondrial function and drive axonal repair in adult sensory neurons

Molecular Metabolism
Objective: Antagonism of the muscarinic acetylcholine type 1 receptor (M1R) promotes sensory axon repair and is protective in peripheral neuropathy, however, the mechanism remains elusive.
Sanjana Chauhan, Darrell R. Smith, Shiva Shariati-Ievari, Abhay Srivastava, Sanjiv Dhingra, Michel Aliani, Paul Fernyhough   +6 more
doaj   +1 more source

Mechanosensitive Piezo1/Osteocalcin/Irisin Axis Protects Against Disuse‐Induced Muscle Atrophy

Advanced Science, Volume 13, Issue 39, 13 July 2026.
Mechanical unloading suppresses bone Piezo1 expression, which reduces circulating undercarboxylated osteocalcin (unOCN). unOCN reduction subsequently exacerbates IMM‐induced Fndc5/Irisin decrease and drives severe muscle atrophy. Bone Piezo1 activation or exogenous osteocalcin/Irisin ameliorate muscle atrophy, while muscle‐specific Gprc6a or Fndc5 ...
Zhaolu Wang, Xiuying Jiang, Xi Sun, Hao Chen, Jianjun Jin, Xin'e Shi   +5 more
wiley   +1 more source

Neurodevelopmental disorders caused by variants in TRPM3

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
Developmental and epileptic encephalopathies (DEE) are a broad and varied group of disorders that affect the brain and are characterized by epilepsy and comorbid intellectual disability (ID). These conditions have a broad spectrum of symptoms and can be caused by various underlying factors, including genetic mutations, infections, and other medical ...
Roelens, Robbe, Peigneur, Ana Nogueira Freitas, Voets, Thomas, Vriens, Joris   +3 more
openaire   +3 more sources

TRPM3 channel stimulated by pregnenolone sulphate in synovial fibroblasts and negatively coupled to hyaluronan

BMC Musculoskeletal Disorders, 2010
Background Calcium-permeable channels are known to have roles in many mammalian cell types but the expression and contribution of such ion channels in synovial cells is mostly unknown.
English Anne A, Sukumar Piruthivi, Naylor Jacqueline, Majeed Yasser, Ciurtin Coziana, Emery Paul, Beech David J   +6 more
doaj   +1 more source

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

eLife, 2020
Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability.
Evelien Van Hoeymissen, Katharina Held, Ana Cristina Nogueira Freitas, Annelies Janssens, Thomas Voets, Joris Vriens   +5 more
doaj   +1 more source

3D‐Printed Piezoionic/Bioelectronic Hydrogel for Electro‐Metabolic Regulation of Osteogenic Differentiation

Advanced Healthcare Materials, Volume 15, Issue 24, 25 June 2026.
A 3D‐printed piezoionic GPMx hydrogel enables stable electromechanical signal generation under mechanical loading, exhibiting long‐term durability and low fatigue. As a bioactive patch, it restores endogenous bioelectricity to stimulate osteogenesis via Ca2+ influx and mitochondrial activation, while simultaneously enabling label‐free alkaline ...
Sayan Deb Dutta, Myoung Joon Jeon, Youjin Seol, Ki‐Taek Lim   +3 more
wiley   +1 more source