MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy-Reference-Cited by-同舟云学术

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Published:2019-09-19 Issue:11-12 Volume:138 Page:1247-1257
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Broeks Melissa H.,Shamseldin Hanan E.,Alhashem Amal,Hashem Mais,Abdulwahab Firdous,Alshedi Tarfa,Alobaid Iman,Zwartkruis Fried,Westland Denise,Fuchs Sabine,Verhoeven-Duif Nanda M.,Jans Judith J. M.,Alkuraya Fowzan S.^ORCID

Funder

King Salman Center for Disability Research

Metakids

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02063-z.pdf

Reference39 articles.

1. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C et al (2017) Mutations in MDH2, encoding a krebs cycle enzyme, cause early-onset severe encephalopathy. Am J Hum Genet 100:151–159

2. Alkuraya FS (2012) Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet 75:6.12.1–6.12.13

3. Alkuraya FS (2013) The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet 132:1197–1211

4. Birktoft JJ, Fu Z, Carnahan GE, Rhodes G, Roderick SL, Banaszak LJ (1989) Comparison of the molecular structures of cytoplasmic and mitochondrial malate dehydrogenase. Biochem Soc Trans 17:301–304

5. Birsoy K, Wang T, Chen WW, Freinkman E, Abu-Remaileh M, Sabatini DM (2015) An essential role of the mitochondrial electron transport chain in cell proliferation is to enable aspartate synthesis. Cell 162:540–551

Cited by 36 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. Inborn errors of the malate aspartate shuttle – Update on patients and cellular models;Molecular Genetics and Metabolism;2024-08

2. Associations between genetically predicted concentrations of plasma proteins and the risk of prostate cancer;BMC Cancer;2024-07-27

3. Genetics of MDH in humans;Essays in Biochemistry;2024-07-22

4. Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency;Molecular Genetics and Metabolism Reports;2024-06

5. Malate dehydrogenase as a multi-purpose target for drug discovery;Essays in Biochemistry;2024-05-31