HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report-Reference-Cited by-同舟云学术

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

Published:2021-09-25 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Aguiar Coelho Silva Madeiro Bianca¹^ORCID,Peeters Kristien²^ORCID,Santos de Lima Elker Lene¹^ORCID,Amor‐Barris Silvia²^ORCID,De Vriendt Els²,Jordanova Albena²,Cartaxo Muniz Maria Tereza¹,da Cunha Correia Carolina¹

Affiliation:

1. Oswaldo Cruz University HospitalUniversidade de Pernambuco Recife Brazil

2. VIB‐UAntwerp Center for Molecular Neurology Antwerp Belgium

Funder

Fonds Wetenschappelijk Onderzoek

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1783

Reference19 articles.

1. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

2. Increased PKC activity and altered GSK3β/NMDAR function drive behavior cycling in HINT1-deficient mice: bipolarity or opposing forces

3. The tumor suppressor HINT1 regulates MITF and β-catenin transcriptional activity in melanoma cells

4. A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States

5. The mutational constraint spectrum quantified from variation in 141,456 humans;Karczewski K. J.;bioRxiv,2019

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles;Frontiers in Neurology;2023-02-06

2. Dynamic Long-Range Interactions Influence Substrate Binding and Catalysis by Human Histidine Triad Nucleotide-Binding Proteins (HINTs), Key Regulators of Multiple Cellular Processes and Activators of Antiviral ProTides;Biochemistry;2022-11-18

3. The Combination of Chromosomal Reorganization and Inherited Point Mutation Has Led to the Development of a Rare Clinical Phenotype in a Patient with Disorder of Sex Differentiation and Neuromuscular Pathology;Cytology and Genetics;2022-09-20

4. HINT1 neuropathy: Expanding the genotype and phenotype spectrum;Clinical Genetics;2022-08-16