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

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About: Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в жовтні 2012 (uk) im Oktober 2012 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55671551-3316F730-6318-405D-B429-A492248A0731
publication date	2012-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55671551-ED0BFDAF-3584-4062-A9EA-3A77A832A2C3
language of work or name	English
exact match	wds:Q55671551-0993578D-46AA-47CF-BA64-039A69F301A8
exact match	https://scigraph.springernature.com/pub.10.1038/ng.2406
cites work	wds:Q55671551-001EB069-C9E7-4426-9D66-7861CDB18A3F wds:Q55671551-1D78BD44-F55B-4F56-AB4D-6A984732343C wds:Q55671551-2E96D8BC-D8EC-4DD6-A114-8ED6AC1A1FB7 wds:Q55671551-4C23EC7D-6FA2-4A3D-8343-69C05C3B0E10 wds:Q55671551-6010BCE2-991A-4559-A0DD-9C7653649DB9 wds:Q55671551-6AE2C0BE-B0EA-4108-AA79-A41B54B03329 wds:Q55671551-6E2B0024-F870-4838-A009-D28349F90C83 wds:Q55671551-85510DE8-74AA-4740-A198-5906C218F435 wds:Q55671551-922D0B4E-0AF9-41A9-8C52-B3D0F3F1FE31 wds:Q55671551-9759428F-8B66-42E8-BFD1-D610D923E149 wds:Q55671551-A1DD6C3C-D5B7-4C10-B695-7A5AD6105D45 wds:Q55671551-AC3EB6A3-11BA-407C-B393-4CA47FB7B891 wds:Q55671551-ADEA9AE8-54DB-4C3C-A85F-52C922EE8C7E wds:Q55671551-C2CE6991-CDEF-4565-BBB2-32F84AB6DA8B wds:Q55671551-E5A9D03D-170A-41D7-8A72-657F53A637E7
cites work	The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3 Genetic and clinical aspects of Charcot-Marie-Tooth's disease Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases Lysyl-tRNA synthetase-generated lysyl-adenylate is a substrate for histidine triad nucleotide binding proteins. Interaction network containing conserved and essential protein complexes in Escherichia coli The histidine triad protein Hint1 interacts with Pontin and Reptin and inhibits TCF-beta-catenin-mediated transcription Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis Hint1 is a haplo-insufficient tumor suppressor in mice Neuromyotonia in hereditary motor neuropathy Altered specificity of Hint-W123Q supports a role for Hint inhibition by ASW in avian sex determination Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery Histidine triad nucleotide-binding protein 1 (HINT-1) phosphoramidase transforms nucleoside 5'-O-phosphorothioates to nucleoside 5'-O-phosphates Engineered monomeric human histidine triad nucleotide-binding protein 1 hydrolyzes fluorogenic acyl-adenylate and lysyl-tRNA synthetase-generated lysyl-adenylate High-resolution X-ray structure of the rabbit histidine triad nucleotide-binding protein 1 (rHINT1)-adenosine complex at 1.10 Å resolution
author name string	wds:Q55671551-01638BBE-A472-434A-BD44-E33A6E50C64B wds:Q55671551-01B45D41-CA18-41DE-B833-EB9D32C20CD0 wds:Q55671551-09D0FB89-E85B-4C88-9585-A6528AA90AFD wds:Q55671551-0B89A057-DDC7-412B-9F43-45A6837B9FA1 wds:Q55671551-18DED48C-ADFD-4F19-9818-563070154692 wds:Q55671551-1EF1FB69-406A-4702-9854-F7C86FF9A49A wds:Q55671551-227D9A42-DD0F-45CA-82D7-9CC9A39C33A7 wds:Q55671551-2EF3C6B0-4DB9-456E-8BF0-92083E89A5E1 wds:Q55671551-50D2F45E-4CFE-4E47-BFD7-4C39835A51AD wds:Q55671551-55B28ED6-688D-4FDE-8F8C-5947500DDA5F wds:Q55671551-660FE2BA-45F9-4215-A706-7EA025E94929 wds:Q55671551-7B5108B4-4ACC-49BC-AEB6-C65D7AC37920 wds:Q55671551-822F53CE-A271-4549-82CE-50DB1122FE01 wds:Q55671551-848A5DA7-8AC8-4528-A673-78BC06107C53 wds:Q55671551-9056894C-DD80-4A76-81E1-C53D06D597D7 wds:Q55671551-93ECABB6-66FD-4D4E-AAED-29343B3B505F wds:Q55671551-97BD77D3-8BF3-4262-9FAB-20B2132B35D7 wds:Q55671551-9D10C1B2-E589-41B5-9038-A5FFD51E0396 wds:Q55671551-B064A200-1388-441B-B75E-D2BF9B253C4E wds:Q55671551-B2901A02-DE5B-49E9-B9D9-D8A19296BF90 wds:Q55671551-C4E99757-BBC5-4D71-BA3B-A9ADC6DF2057 wds:Q55671551-D40A0BC0-D4B9-4A70-93D0-2A3658863C4D wds:Q55671551-DE3C8FD1-06B9-4D9C-B177-9914358840E7 wds:Q55671551-E2FEFB10-46D4-4D62-BB20-4F08A5F7C034 wds:Q55671551-E301CE71-680A-45AF-9588-B13D1716A074 wds:Q55671551-F9A10B7F-C1D5-4007-8990-22DBDE706804
author name string	Thomas Müller Peter De Jonghe Jonathan Baets Ivailo Tournev Patrick Van Dijck Erik Fransen Kristien Peeters Vincent Timmerman Silvia Lechner Günther Bernert Ana Beleza-Meireles Albena Jordanova Velina Guergueltcheva Haluk Topaloğlu Els De Vriendt Yesim Parman Angelika F Hahn Nina Barišić Esra Battaloğlu Vedrana Milic Rasic Slobodanka Todorovic Zoran Mitrovic Tinne Ooms Boryana Ishpekova Jelena Nikodinovic Magdalena Zimoń
rdfs: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)
skos: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)
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)
author	wds:Q55671551-095BCC27-00D9-48BB-898E-D5D6B416A83F

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