Literature DB >> 23043279

HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia.

F Aminkeng1.   

Abstract

Entities:  

Year:  2012        PMID： 23043279     DOI： 10.1111/cge.12030

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Authors:  P Laššuthová; D Šafka Brožková; M Krůtová; J Neupauerová; J Haberlová; R Mazanec; N Dvořáčková; Z Goldenberg; P Seeman
Journal:  Neurogenetics       Date:  2014-10-24       Impact factor: 2.660

2.  Post-translational modification of HINT1 mediates activation of MITF transcriptional activity in human melanoma cells.

Authors:  A Motzik; E Amir; T Erlich; J Wang; B-G Kim; J M Han; J H Kim; H Nechushtan; M Guo; E Razin; S Tshori
Journal:  Oncogene       Date:  2017-04-10       Impact factor: 9.867

3.  Second messenger Ap4A polymerizes target protein HINT1 to transduce signals in FcεRI-activated mast cells.

Authors:  Jing Yu; Zaizhou Liu; Yuanyuan Liang; Feng Luo; Jie Zhang; Cuiping Tian; Alex Motzik; Mengmeng Zheng; Jingwu Kang; Guisheng Zhong; Cong Liu; Pengfei Fang; Min Guo; Ehud Razin; Jing Wang
Journal:  Nat Commun       Date:  2019-10-11       Impact factor: 14.919

4.  High content screening and proteomic analysis identify a kinase inhibitor that rescues pathological phenotypes in a patient-derived model of Parkinson's disease.

Authors:  Era Taoufik; Rebecca Matsas; Nasia Antoniou; Kanella Prodromidou; Georgia Kouroupi; Ioanna Boumpoureka; Martina Samiotaki; George Panayotou; Maria Xilouri; Ismini Kloukina; Leonidas Stefanis; Regis Grailhe
Journal:  NPJ Parkinsons Dis       Date:  2022-02-11
  4 in total

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