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
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
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
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat.2_
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf
TRAP1 chaperone protein mutations and autoinflammation.
Standing AS et al.
Life Science Alliance, 2020
31882397 (PubMed )
Supplement: LSA-2019-00376_TableS2.xlsx › Sheet1
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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
Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys.
Skinner SJ et al.
Kidney International, 2014
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat P et al.
Kidney International, 2014
Recessive mutations in CAKUT and VACTERL association.
Westland R et al.
Kidney International, 2014
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