Associated Papers
Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G.
Figura JR et al.
Genes, 2025
Discovery and validation of small molecule stabilizers of mutant triose phosphate isomerase (TPI) as potential lead candidates for TPI deficiency.
Vollmer LL et al.
Slas Discovery : Advancing Life Sciences R & D, 2025
Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.
Ramos C et al.
Reports (mdpi), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Methylglyoxal-Induced Modifications in Human Triosephosphate Isomerase: Structural and Functional Repercussions of Specific Mutations.
de la Mora-de la Mora I et al.
Molecules (basel, Switzerland), 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency.
Myers TD et al.
Scientific Reports, 2024
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
Selamioğlu A et al.
Molecular Syndromology, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.
Bartolacci C et al.
Nature Communications, 2022
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
VanDemark AP et al.
Disease Models & Mechanisms, 2022
Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction.
Myers TD et al.
Current Research in Neurobiology, 2022
A High-Content Screening Assay for Small Molecules That Stabilize Mutant Triose Phosphate Isomerase (TPI) as Treatments for TPI Deficiency.
Vogt A et al.
Slas Discovery : Advancing Life Sciences R & D, 2021
Identification of protein quality control regulators using a Drosophila model of TPI deficiency.
Hrizo SL et al.
Neurobiology of Disease, 2021
Child Neurology: Triosephosphate isomerase deficiency.
Harris C et al.
Neurology, 2020
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
Roland BP et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Alabdullatif MA et al.
Clinical Genetics, 2017
Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
Del Orbe Barreto R et al.
International Journal of Laboratory Hematology, 2016
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
Aissa K et al.
Fetal and Pediatric Pathology, 2014
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
Fermo E et al.
European Journal of Haematology, 2010
New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family.
Repiso A et al.
Journal of Inherited Metabolic Disease, 2005
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
Valentin C et al.
Blood, 2000
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
Sarper N et al.
The Turkish Journal of Pediatrics, 0
TPI deficiency: A case report and review of the literature.
Williams A et al.
Molecular Genetics and Metabolism, 0