Výsledky vyhledávání - "Lawrence J. Macala"

The novel activity of carbamazepine as an activation modulator extends from NaV1.7 mutations to the NaV1.8-S242T mutant channel from a patient with painful diabetic neuropathy

Autor: Lawrence J. Macala, Fadia B. Dib-Hajj, Iulia Blesneac, Chongyang Han, Andreas C. Themistocleous, Carl Fratter, Mark Estacion, Sulayman D. Dib-Hajj, Stephen G. Waxman, David L.H. Bennett

Publikováno v: Molecular Pharmacology

Neuropathic pain in patients carrying sodium channel gain-of-function mutations is generally refractory to pharmacotherapy. However, we have shown that pretreatment of cells with clinically achievable concentration of carbamazepine (CBZ; 30 μM) depo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93379325afe861def66acdf280b33b45

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The G1662S Na(V)1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

Autor: Ingemar S. J. Merkies, Janneke G. J. Hoeijmakers, Chongyang Han, Kim J Bekelaar, Dmytro V. Vasylyev, Catharina G. Faber, Monique M. Gerrits, Stephen G. Waxman, Sulayman D. Dib-Hajj, Lawrence J. Macala

Publikováno v: Journal of Neurology Neurosurgery and Psychiatry, 85(5), 499-505. BMJ Publishing Group

Objective Painful small fibre neuropathy (SFN) represents a significant public health problem, with no cause apparent in one-half of cases (termed idiopathic, I-SFN). Gain-of-function mutations of sodium channel Na V 1.7 have recently been identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aafc806d014ebda31f6038ed061550c
https://doi.org/10.1136/jnnp-2013-306095

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Differential effect of D623N variant and wild-type Nav1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons

Autor: Catharina G. Faber, Hye-Sook Ahn, Stephen G. Waxman, Dmytro V. Vasylyev, Sulayman D. Dib-Hajj, Palak Shah, Mark Estacion, Ingemar S. J. Merkies, Lawrence J. Macala

Publikováno v: Brain Research, 1529, 165-177. Elsevier

Sodium channel Na(v)1.7 is preferentially expressed in dorsal root ganglion (DRG) and sympathetic ganglion neurons. Gain-of-function Na(v)1.7 mutations/variants have been identified in the painful disorders inherited erythromelalgia and small-fiber n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24759af636f5f6d5e2eb22c3b92531c0
https://doi.org/10.1016/j.brainres.2013.07.005

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A SCN10A SNP biases human pain sensitivity

Autor: Li Zhang, Lawrence J. Macala, Shanna Guo, Palak Shah, Mi Zhang, Penghao Huang, Chongyang Han, Sulayman D. Dib-Hajj, Stephen G. Waxman, Yuhao Zhang, Guangyou Duan, Ningbo Li, Xianwei Zhang, Qingli Wang, Ying Ying

Publikováno v: Molecular Pain

Background: Nav1.8 sodium channels, encoded by SCN10A, are preferentially expressed in nociceptive neurons and play an important role in human pain. Although rare gain-of-function variants in SCN10A have been identified in individuals with painful pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3670ba3c51e6844ce6d77f52e702040
http://europepmc.org/articles/PMC5011395

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Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli

Autor: Yang Yang, Sulayman D. Dib-Hajj, Lawrence J. Macala, Mark Estacion, Daniel B. Horton, Palak Shah, Stephen G. Waxman, Betsy R. Schulman, Malgorzata A. Mis, Jianying Huang

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience. 36(28)

Voltage-gated sodium channel Nav1.7 is a central player in human pain. Mutations in Nav1.7 produce several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-function mutations render dorsal root ganglia (DRG) neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4a952b1ae33c2e46a497dab0d20132
https://pubmed.ncbi.nlm.nih.gov/27413160

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NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders

Autor: Lawrence J. Macala, Mark Estacion, Rene H. M. te Morsche, Stephen G. Waxman, Sulayman D. Dib-Hajj, Emmanuella M. Eastman, J.P.H. Drenth, Paul J. Benke

Publikováno v: The Journal of Neuroscience, 28, 43, pp. 11079-88
The Journal of Neuroscience, 28, 11079-88

Gain-of-function mutations of NaV1.7 have been shown to produce two distinct disorders: NaV1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in the extremities; NaV1.7 mutations that impair i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207efec52fec8dcfdc15417bd3ee4970
https://doi.org/10.1523/jneurosci.3443-08.2008

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Vasopressin-induced activation of protein kinase C in renal epithelial cells

Autor: Surasak Kantachuvesiri, Robert F. Reilly, Lawrence J. Macala, John P. Hayslett, Carlos M. Isales, Nawab Ali, Jing Ji, Joan I. Smallwood

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1402(2):188-196

Recent studies indicate that the actions of arginine vasopressin (AVP) and other agonists that stimulate electrogenic sodium transport in renal epithelial A6 cells are linked to a Ca 2+ -mobilizing signal transduction mechanism that involves generati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2a62b77e4dea526f61418f6d49fdb9

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Vasopressin-stimulated Electrogenic Sodium Transport in A6 Cells Is Linked to a Ca2+-mobilizing Signal Mechanism

Autor: Jose Gassala-Herraiz, Lawrence J. Macala, Leena Kalghatgi, Joan I. Smallwood, John P. Hayslett, Carlos M. Isales

Publikováno v: Journal of Biological Chemistry. 270:16082-16088

Vasopressin is known to activate two types of cell surface receptors; V2, coupled to adenylate cyclase, and V1, linked to a Ca(2+)-dependent transduction system. We investigated whether arginine vasopressin (AVP) stimulation of electrogenic sodium tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a16183d6deaef9edb54ef72a8c24f7
https://doi.org/10.1074/jbc.270.27.16082

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In situ accessibility of murine macrophage gangliosides

Autor: Lawrence J. Macala, Herbert C. Yohe

Publikováno v: Glycobiology. 5:67-75

Gangliosides are implicated in cell signal transduction. Prior to investigating this phenomenon in macrophages, the in situ accessibility of gangliosides to macromolecules was assessed for peritoneal macrophages isolated from normal C3H/HeN and endot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a07db51f302573fca7c831d7f1b0ef
https://doi.org/10.1093/glycob/5.1.67

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Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel Na(V)1.7 mutation

Autor: Lawrence J. Macala, Chongyang Han, Ingemar S. J. Merkies, Stephen G. Waxman, Catharina G. Faber, Monique M. Gerrits, Janneke G. J. Hoeijmakers, Sulayman D. Dib-Hajj, Giuseppe Lauria

Publikováno v: Brain, 135, 345-358. Oxford University Press

The NaV1.7 sodium channel is preferentially expressed within dorsal root ganglion and sympathetic ganglion neurons and their small-diameter peripheral axons. Gain-of-function variants of NaV1.7 have recently been described in patients with painful sm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117f40ba5b4f07000ddeea08a15fe9ca
https://pure.eur.nl/en/publications/11016314-576d-4b20-85df-c02246e86c1c

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