Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations-Reference-Cited by-同舟云学术

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Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations

Published:2016-08-08 Issue:10 Volume:37 Page:1074-1084
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Metherell Louise A¹,Guerra‐Assunção José Afonso²,Sternberg Michael J³,David Alessia³

Affiliation:

1. Centre for Endocrinology, William Harvey Research Institute Queen Mary University of London Charterhouse Square London UK

2. Centre for Molecular Oncology, Barts Cancer Institute Queen Mary University of London Charterhouse Square London UK

3. Centre for Integrative System Biology and Bioinformatics Imperial College London London UK

Funder

Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23046

Reference68 articles.

1. A global reference for human genetic variation

2. A method and server for predicting damaging missense mutations

3. A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity

4. Identification of a Region Involved in the Communication between the NADP(H) Binding Domain and the Membrane Domain in Proton Pumping E. coli Transhydrogenase

5. Obesity and Type 2 diabetes: Slow down!—Can metabolic deceleration protect the islet beta cell from excess nutrient-induced damage?

Cited by 15 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. Aging-dependent mitochondrial bioenergetic impairment in the skeletal muscle of NNT-deficient mice;Experimental Gerontology;2024-08

2. Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants;European Journal of Endocrinology;2024-01-23

3. A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review;Annales d'Endocrinologie;2023-06

4. Metabolic Features of Brain Function with Relevance to Clinical Features of Alzheimer and Parkinson Diseases;Molecules;2022-01-30

5. Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis;American Journal of Medical Genetics Part A;2021-09-21

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