Literature DB >> 22961002

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Magdalena Zimoń1, Jonathan Baets, Leonardo Almeida-Souza, Els De Vriendt, Jelena Nikodinovic, Yesim Parman, Esra Battaloğlu, Zeliha Matur, Velina Guergueltcheva, Ivailo Tournev, Michaela Auer-Grumbach, Peter De Rijk, Britt-Sabina Petersen, Thomas Müller, Erik Fransen, Philip Van Damme, Wolfgang N Löscher, Nina Barišić, Zoran Mitrovic, Stefano C Previtali, Haluk Topaloğlu, Günther Bernert, Ana Beleza-Meireles, Slobodanka Todorovic, Dusanka Savic-Pavicevic, Boryana Ishpekova, Silvia Lechner, Kristien Peeters, Tinne Ooms, Angelika F Hahn, Stephan Züchner, Vincent Timmerman, Patrick Van Dijck, Vedrana Milic Rasic, Andreas R Janecke, Peter De Jonghe, Albena Jordanova.   

Abstract

Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.

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Year:  2012        PMID： 22961002     DOI： 10.1038/ng.2406

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Neuromyotonia in hereditary motor neuropathy.

Authors:  A F Hahn; A W Parkes; C F Bolton; S A Stewart
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-03       Impact factor: 10.154

2.  Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3.

Authors:  Pawel Bieganowski; Preston N Garrison; Santosh C Hodawadekar; Gerard Faye; Larry D Barnes; Charles Brenner
Journal:  J Biol Chem       Date:  2002-01-22       Impact factor: 5.157

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Authors:  H Li; Y Zhang; T Su; R M Santella; I B Weinstein
Journal:  Oncogene       Date:  2006-02-02       Impact factor: 9.867

4.  The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.

Authors:  Jörg Weiske; Otmar Huber
Journal:  J Biol Chem       Date:  2006-07-11       Impact factor: 5.157

5.  Altered specificity of Hint-W123Q supports a role for Hint inhibition by ASW in avian sex determination.

Authors:  Kristen P Parks; Heather Seidle; Nathan Wright; Jeffrey B Sperry; Pawel Bieganowski; Konrad Howitz; Dennis L Wright; Charles Brenner
Journal:  Physiol Genomics       Date:  2004-10-26       Impact factor: 3.107

6.  High-resolution X-ray structure of the rabbit histidine triad nucleotide-binding protein 1 (rHINT1)-adenosine complex at 1.10 Å resolution.

Authors:  Rafał Dolot; Magdalena Ozga; Agnieszka Krakowiak; Barbara Nawrot
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2011-06-14

7.  Lysyl-tRNA synthetase-generated lysyl-adenylate is a substrate for histidine triad nucleotide binding proteins.

Authors:  Tsui-Fen Chou; Carston R Wagner
Journal:  J Biol Chem       Date:  2006-12-08       Impact factor: 5.157

8.  Histidine triad nucleotide-binding protein 1 (HINT-1) phosphoramidase transforms nucleoside 5'-O-phosphorothioates to nucleoside 5'-O-phosphates.

Authors:  Magdalena Ozga; Rafal Dolot; Magdalena Janicka; Renata Kaczmarek; Agnieszka Krakowiak
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  42 in total

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Authors:  Elsa Cortés-Montero; María Rodríguez-Muñoz; Pilar Sánchez-Blázquez; Javier Garzón-Niño
Journal:  Mol Neurobiol       Date:  2021-01-06       Impact factor: 5.590

2.  Structural characterization of human histidine triad nucleotide-binding protein 2, a member of the histidine triad superfamily.

Authors:  Kimberly M Maize; Carston R Wagner; Barry C Finzel
Journal:  FEBS J       Date:  2013-06-10       Impact factor: 5.542

3.  Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

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Journal:  Neurology       Date:  2017-01-11       Impact factor: 9.910

4.  Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Authors:  Magdalena Zimoń; Esra Battaloğlu; Yesim Parman; Sevim Erdem; Jonathan Baets; Els De Vriendt; Derek Atkinson; Leonardo Almeida-Souza; Tine Deconinck; Burcak Ozes; Dirk Goossens; Sebahattin Cirak; Philip Van Damme; Mohammad Shboul; Thomas Voit; Lionel Van Maldergem; Bernard Dan; Mohammed S El-Khateeb; Velina Guergueltcheva; Eduardo Lopez-Laso; Nathalie Goemans; Amira Masri; Stephan Züchner; Vincent Timmerman; Haluk Topaloğlu; Peter De Jonghe; Albena Jordanova
Journal:  Neurogenetics       Date:  2014-09-18       Impact factor: 2.660

5.  Changes in transcription start sites of Zap1-regulated genes during zinc deficiency: Implications for HNT1 gene regulation.

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6.  A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Authors:  Alexander P Drew; Anthony N Cutrupi; Megan H Brewer; Garth A Nicholson; Marina L Kennerson
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7.  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

8.  Kinetic mechanism of human histidine triad nucleotide binding protein 1.

Authors:  Xin Zhou; Tsui-Fen Chou; Brandon E Aubol; Chin Ju Park; Richard Wolfenden; Joseph Adams; Carston R Wagner
Journal:  Biochemistry       Date:  2013-05-07       Impact factor: 3.162

9.  MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Authors:  Obaid M Albulym; Marina L Kennerson; Matthew B Harms; Alexander P Drew; Anna H Siddell; Michaela Auer-Grumbach; Alan Pestronk; Anne Connolly; Robert H Baloh; Stephan Zuchner; Stephen W Reddel; Garth A Nicholson
Journal:  Ann Neurol       Date:  2016-01-13       Impact factor: 10.422

10.  Cannabinoid receptors couple to NMDA receptors to reduce the production of NO and the mobilization of zinc induced by glutamate.

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