Results 21 to 30 of about 2,388 (162)

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

eLife, 2023
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ...
Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens   +31 more
doaj   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review. [PDF]

Epilepsia Open
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Cioclu MC, Giovannini G, Meletti S.
europepmc   +2 more sources

Bradykinin-Induced Sensitization of Transient Receptor Potential Channel Melastatin 3 Calcium Responses in Mouse Nociceptive Neurons

Frontiers in Cellular Neuroscience, 2022
TRPM3 is a calcium-permeable cation channel expressed in a range of sensory neurons that can be activated by heat and the endogenous steroid pregnenolone sulfate (PS).
Marc Behrendt, Hans Jürgen Solinski, Martin Schmelz, Richard Carr   +3 more
doaj   +1 more source

Sensing the heat with TRPM3 [PDF]

Pflügers Archiv - European Journal of Physiology, 2018
Heat sensation, the ability to detect warm and noxious temperatures, is an ancient and indispensable sensory process. Noxious temperatures can have detrimental effects on the physiology and integrity of cells, and therefore, the detection of environmental hot temperatures is absolutely crucial for survival.
Vriens, Joris, Voets, Thomas
openaire   +3 more sources

TRPM3 activation causes CGRP release in trigeminal neurons: Implications for migraine mechanisms. [PDF]

Headache
Abstract Background The transient receptor potential melastatin 3 (TRPM3) ion channel has been implicated in sensory modulation and pain transmission and may contribute to migraine pathophysiology through calcitonin gene‐related peptide (CGRP) release in the trigeminovascular system. This study aimed to investigate TRPM3 activation and its role in CGRP
Reducha PV, Nielsen LKS, Jensen MN, Edvinsson JCA, Kazantzi S, Wæver SL, Lylloff T, Westgate CSJ, Edvinsson L, Haanes KA.   +9 more
europepmc   +2 more sources

Transient receptor potential melastatin 3 dysfunction in post COVID-19 condition and myalgic encephalomyelitis/chronic fatigue syndrome patients

Molecular Medicine, 2022
Background Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a severe multisystemic condition associated with post-infectious onset, impaired natural killer (NK) cell cytotoxicity and impaired ion channel function, namely Transient Receptor ...
Etianne Martini Sasso, Katsuhiko Muraki, Natalie Eaton-Fitch, Peter Smith, Olivia Ly Lesslar, Gary Deed, Sonya Marshall-Gradisnik   +6 more
doaj   +1 more source

Potential Therapeutic Benefit of Low Dose Naltrexone in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Role of Transient Receptor Potential Melastatin 3 Ion Channels in Pathophysiology and Treatment

Frontiers in Immunology, 2021
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating multi-systemic chronic condition of unknown aetiology classified as an immune dysfunction syndrome and neurological disorder.
Helene Cabanas, Helene Cabanas, Katsuhiko Muraki, Katsuhiko Muraki, Natalie Eaton-Fitch, Natalie Eaton-Fitch, Donald Ross Staines, Donald Ross Staines, Sonya Marshall-Gradisnik, Sonya Marshall-Gradisnik   +9 more
doaj   +1 more source

TRPM3 in temperature sensing and beyond [PDF]

Temperature, 2015
TRPM3, also known as melastatin 2 (MLSN2), LTRPC3 (long TRPC3) and KIAA1616, is a member of the TRPM subfamily of transient receptor potential (TRP) ion channels. The channel was originally identified as a volume-regulated ion channel that can be activated upon reduction of the extracellular osmolality. Later, the channel was proposed to be involved in
Held, Katharina, Voets, Thomas, Vriens, Joris   +2 more
openaire   +2 more sources

Nanoparticles-Mediated Modulation of TRP Channels: Advances and Therapeutic Potential. [PDF]

Wiley Interdiscip Rev Nanomed Nanobiotechnol
Nanoparticle‐mediated modulation of TRP channels, highlighting the interplay between external stimuli, tailored nanomaterials, and TRP channel activation across a range of physiological contexts. This review examines the roles of TRP channels in cellular signaling and disease, providing insights into how advances in nanotechnology can facilitate ...
Foster KA, Midler N, Shine O, Rosenfeld D.   +3 more
europepmc   +2 more sources

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

BMC Pediatrics, 2021
Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants
Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen   +7 more
doaj   +1 more source