Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis-Reference-Cited by-同舟云学术

Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis

Published:1997-12 Issue:6 Volume:61 Page:1318-1326
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Aral Bernard,Benelli Chantal,Ait-Ghezala Ghania,Amessou Mohamed,Fouque Françoise,Maunoury Catherine,Créau Nicole,Kamoun Pierre,Marsac Cécile

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference38 articles.

1. ‘Database cloning’ human Δ1-pyrroline 5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first two steps in proline biosynthesis;Aral;C R Acad Sci III,1996

2. Comparative genomics, genome cross-referencing and XREFdb;Bassett;Trends Genet,1995

3. Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease;Bassett;Nat Genet,1997

4. Cloning and nucleotide sequence of the gene for protein X from Saccharomyces cerevisiae;Behal;Proc Natl Acad Sci USA,1989

5. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer;Bronner;Nature,1994

Cited by 48 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. Integrative transcriptomic-proteomic analysis revealed the flavor formation mechanism and antioxidant activity in rice-acid inoculated with Lactobacillus paracasei and Kluyveromyces marxianus;Journal of Proteomics;2021-04

2. The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases;Genes;2021-02-20

3. Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes;Epilepsy & Behavior Reports;2021

4. miR-26a is Involved in Glycometabolism and Affects Boar Sperm Viability by Targeting PDHX;Cells;2020-01-08

5. Synaptic energy metabolism and neuronal excitability, in sickness and health;Journal of Inherited Metabolic Disease;2019-03