Associated Papers
Point mutations of the mitochondrial chaperone TRAP1 affect its functions and pro-neoplastic activity.
Laquatra C et al.
Cell Death & Disease, 2025
40074754 (PubMed )
Supplement: 41419_2025_7467_MOESM7_ESM.xlsx › TRAP1-simple_mode
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S2
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.
Fitzgerald JC et al.
Brain : a Journal of Neurology, 2017
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
Chen Y et al.
Journal of Medical Genetics, 2016
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Boles RG et al.
Mitochondrion, 2015
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat P et al.
Kidney International, 2014
Select a paper to view details