Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy-Reference-Cited by-同舟云学术

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

Published:2023-04 Issue:2 Volume:4 Page:100182
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Sondheimer Neal,Aleman Alberto,Cameron Jessie,Gonorazky Hernan,Sabha Nesrin,Oliveira Paula,Amburgey Kimberly,Wahedi Azizia,Wang Dahai,Shy Michael,Dowling. James J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference11 articles.

1. Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction;Vieira;Mol. Genet. Metabol.,2017

2. Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression;Modaressi;Biochem. J.,1998

3. Kinetic and functional properties of human mitochondrial phosphoenolpyruvate carboxykinase;Escós;Biochem. Biophys. Rep.,2016

4. Phosphoenolpyruvate cycling via mitochondrial phosphoenolpyruvate carboxykinase links anaplerosis and mitochondrial GTP with insulin secretion;Stark;J. Biol. Chem.,2009

5. Multi-Tissue acceleration of the mitochondrial phosphoenolpyruvate cycle improves whole-body metabolic health;Abulizi;Cell Metabol.,2020

Cited by 1 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. Systematic assessment of the ecotoxicological effects and mechanisms of biochar-derived dissolved organic matter (DOM) on the earthworm Eisenia fetida;Environmental Research;2023-11