A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

scientific article

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/1744806916674472
P8608Fatcat IDrelease_ypscuk5uorgyformiwctxspzoa
P932PMC publication ID5102167
P698PubMed publication ID27821467

P50authorGiuseppe LauriaQ47739372
Catharina G FaberQ57051259
Harshvardhan RolyanQ59582714
Stephen G WaxmanQ91085251
Ingemar S J MerkiesQ130279190
Janneke G. J. HoeijmakersQ130292565
P2093author name stringJoel A Black
Shujun Liu
P2860cites workSmall-fiber neuropathyQ28220711
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Axon degeneration: Molecular mechanisms of a self-destruction pathwayQ29013985
Gain of function NaV1.7 mutations in idiopathic small fiber neuropathyQ30048469
The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathologyQ33340463
Low density of sodium channels supports action potential conduction in axons of neonatal rat optic nerveQ33838989
Small-fibre neuropathies--advances in diagnosis, pathophysiology and managementQ34277762
Mechanisms of axonal injury: internodal nanocomplexes and calcium deregulationQ34292220
Gain-of-function Nav1.8 mutations in painful neuropathy.Q34309236
Neurological manifestations in chronic mountain sickness: the burning feet-burning hands syndromeQ35459732
Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutationQ36032974
General mechanisms of axonal damage and its preventionQ36130539
Genetic aspects of sodium channelopathy in small fiber neuropathyQ38026870
Painful small fiber neuropathiesQ38027311
Small fibre neuropathy.Q38039927
Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.Q41186134
The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.Q41190621
Etiology of small-fiber neuropathyQ43243469
Acral paresthesias in the Andes and neurology at sea levelQ44228569
Sodium channels contribute to degeneration of dorsal root ganglion neurites induced by mitochondrial dysfunction in an in vitro model of axonal injuryQ44467394
Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.Q44663616
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathyQ45771999
Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.Q46987387
The effect of age and gender on epidermal nerve fiber densityQ47985003
Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.Q48686306
Ionic mechanisms of anoxic injury in mammalian CNS white matter: role of Na+ channels and Na(+)-Ca2+ exchanger.Q51697656
Spontaneous action potential generation due to persistent sodium channel currents in simulated carotid body afferent fibers.Q51891992
The relationship between mitochondrial state, ATP hydrolysis, [Mg2+]i and [Ca2+]i studied in isolated rat cardiomyocytes.Q53981444
Idiopathic distal small fiber neuropathyQ71023932
Small-fiber sensory neuropathies: clinical course and neuropathology of idiopathic casesQ74784686
Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitabilityQ84008522
The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitabilityQ85637494
P407language of work or nameEnglishQ1860
P577publication date2016-01-01
P1433published inMolecular PainQ15766244
P1476titleA painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels
P478volume12

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cites work (P2860)
Q46894071Chronic non-freezing cold injury results in neuropathic pain due to a sensory neuropathy
Q64113156Mitochondrial Dynamics Impairment in Dexamethasone-Treated Neuronal Cells
Q50421652Mitochondrial damage and "plugging" of transport selectively in myelinated, small-diameter axons are major early events in peripheral neuroinflammation
Q30235132New Horizons in Diabetic Neuropathy: Mechanisms, Bioenergetics, and Pain
Q47950036Rare Nav1.7 variants associated with painful diabetic peripheral neuropathy.
Q50066034The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes

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