Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
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Ascorbic acid for the treatment of Charcot-Marie-Tooth diseaseStructural characterization of human histidine triad nucleotide-binding protein 2, a member of the histidine triad superfamilyHistidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathwayUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Axonal neuropathy with neuromyotonia: there is a HINT.Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyLack of neuropathy-related phenotypes in hint1 knockout mice.Effect of microRNA-210 on prognosis and response to chemotherapeutic drugs in pediatric acute lymphoblastic leukemiaMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Isaacs syndrome: A review.Post-translational modification of HINT1 mediates activation of MITF transcriptional activity in human melanoma cells.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Hint1 Up-Regulates IκBα by Targeting the β-TrCP Subunit of SCF E3 Ligase in Human Hepatocellular Carcinoma Cells.Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.Kinetic mechanism of human histidine triad nucleotide binding protein 1.Effects of Hint1 deficiency on emotional-like behaviors in mice under chronic immobilization stress.Social isolation induces schizophrenia-like behavior potentially associated with HINT1, NMDA receptor 1, and dopamine receptor 2.Cannabinoid receptors couple to NMDA receptors to reduce the production of NO and the mobilization of zinc induced by glutamate.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Phosphoramidate hydrolysis catalyzed by human histidine triad nucleotide binding protein 1 (hHint1): a cluster-model DFT computational study.HINT1 in Neuropsychiatric Diseases: A Potential Neuroplastic Mediator.Switch-on fluorescent/FRET probes to study human histidine triad nucleotide binding protein 1 (hHint1), a novel target for opioid tolerance and neuropathic pain.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
description
im Oktober 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2012
@uk
name
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@en
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@nl
type
label
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@en
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@nl
prefLabel
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@en
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@nl
P2093
P2860
P50
P356
P1433
P1476
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
@en
P2093
Albena Jordanova
Ana Beleza-Meireles
Angelika F Hahn
Boryana Ishpekova
Els De Vriendt
Erik Fransen
Esra Battaloğlu
Günther Bernert
Haluk Topaloğlu
Ivailo Tournev
P2860
P2888
P304
P356
10.1038/NG.2406
P407
P50
P577
2012-10-01T00:00:00Z
P5875
P6179
1030181067