التفاصيل البيبلوغرافية
العنوان:
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
المؤلفون:
Tinne Ooms , Stefano C. Previtali , Zoran Mitrović , Van Dijck P , Haluk Topaloglu , Silvia Lechner , Vedrana Milic Rasic , J. Nikodinovic , Wolfgang Löscher , Thomas Müller , Albena Jordanova , Michaela Auer-Grumbach , Yesim Parman , S. Todorovic , Leonardo Almeida-Souza , Van Damme P , Esra Battaloglu , Erik Fransen , Hahn Af , Dusanka Savic-Pavicevic , Nina Barišić , Jonathan Baets , Beleza-Meireles A , Andreas R. Janecke , Guergueltcheva , Günther Bernert , De Vriendt E , Stephan Züchner , Timmerman , De Rijk P , K. Peeters , Zeliha Matur , Boryana Ishpekova , Britt-Sabina Petersen , De Jonghe P , Ivailo Tournev , Magdalena Zimoń
المصدر:
Nature genetics
سنة النشر:
2012
مصطلحات موضوعية:
Axonal neuropathy , Saccharomyces cerevisiae Proteins , Neuromyotonia , DNA Mutational Analysis , Mutation, Missense , Gene Expression , Genes, Recessive , Nerve Tissue Proteins , Saccharomyces cerevisiae , Biology , medicine.disease_cause , Myotonia , 03 medical and health sciences , Mice , 0302 clinical medicine , Genetic linkage , Genetics , medicine , Missense mutation , Animals , Humans , Abnormalities, Multiple , Amino Acid Sequence , Loss function , Conserved Sequence , Genetic Association Studies , 030304 developmental biology , 0303 health sciences , Mutation , Genetic Complementation Test , Syndrome , medicine.disease , 3. Good health , Human medicine , generated lysyl-adenylate , histidine , supports , mice , Hereditary Sensory and Motor Neuropathy , 030217 neurology & neurosurgery
الوصف:
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.
اللغة:
English
تدمد:
1061-4036
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2cece435697cee9fa78d5b14fd9c56c https://www.bib.irb.hr/744732
حقوق:
CLOSED
رقم الأكسشن:
edsair.doi.dedup.....d2cece435697cee9fa78d5b14fd9c56c
قاعدة البيانات:
OpenAIRE
