Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5-Reference-Cited by-同舟云学术

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Published:2013-12-10 Issue:2 Volume:137 Page:366-379
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Baker Peter R.,Friederich Marisa W.,Swanson Michael A.,Shaikh Tamim,Bhattacharya Kaustuv,Scharer Gunter H.,Aicher Joseph,Creadon-Swindell Geralyn,Geiger Elizabeth,MacLean Kenneth N.,Lee Wang-Tso,Deshpande Charu,Freckmann Mary-Louise,Shih Ling-Yu,Wasserstein Melissa,Rasmussen Malene B.,Lund Allan M.,Procopis Peter,Cameron Jessie M.,Robinson Brian H.,Brown Garry K.,Brown Ruth M.,Compton Alison G.,Dieckmann Carol L.,Collard Renata,Coughlin Curtis R.,Spector Elaine,Wempe Michael F.,Van Hove Johan L.K.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/137/2/366/13797619/awt328.pdf

Reference50 articles.

1. A method and server for predicting damaging missense mutations;Adzubei;Nat Methods,2010

2. Cardiac involvement in nonketotic hyperglycinemia;Al-shareef;J Child Neurol,2011

3. A familial spinal cord disorder with hyperglycinemia;Bank;Arch Neurol,1972

4. The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload;Camaschella;Blood,2007

5. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes;Cameron;Am J Hum Genet,2011

Cited by 185 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: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant;Frontiers in Genetics;2024-09-11

2. AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia;Molecular Genetics and Metabolism;2024-07

3. The Role of Excitotoxicity, Oxidative Stress and Bioenergetics Disruption in the Neuropathology of Nonketotic Hyperglycinemia;Neurotoxicity Research;2024-06-29

4. Mitochondria function in cytoplasmic FeS protein biogenesis;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2024-06

5. The significance of glutaredoxins for diabetes mellitus and its complications;Redox Biology;2024-05