ArticleEuropean journal of human genetics : EJHG2017
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- The role of mitochondrial Na⁺/Ca²⁺ exchanger in brain cell aging.Journal of bioenergetics and biomembranes · 2026Review
- Loss of TMEM65 in mice causes mitochondrial disease mediated by mitochondrial CaNature communications · 2026Article
- TMEM65-dependent Ca2+ extrusion safeguards mitochondrial homeostasis.Nature communications · 2025Article
- Research progress on TMEM proteins in cancer progression and chemoresistance (Review).International journal of molecular medicine · 2025Review
- MYC/TET3-Regulated TMEM65 Activates OXPHOS-SERPINB3 Pathway to Promote Progression and Cisplatin Resistance in Triple-Negative Breast Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- TMEM65 joins the mitochondrial CaNature metabolism · 2025Article
- TMEM65 regulates and is required for NCLX-dependent mitochondrial calcium efflux.Nature metabolism · 2025Article
- Genetics of constant and severe pain in the NAPS2 cohort of recurrent acute and chronic pancreatitis patients.The journal of pain · 2025Article
- TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target.Oncogene · 2024Article
- Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.Frontiers of medicine · 2024Article
- Next Generation Sequencing and Electromyography Reveal the Involvement of theCurrent issues in molecular biology · 2024Article
- Article
- Co-fractionation-mass spectrometry to characterize native mitochondrial protein assemblies in mammalian neurons and brain.Nature protocols · 2023Article
- The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes.Physiological reviews · 2023Review
- Identification of SNPs Associated with Goose Meat Quality Traits Using a Genome-Wide Association Study Approach.Animals : an open access journal from MDPI · 2023Article
- The chromatin remodeler CHD6 promotes colorectal cancer development by regulating TMEM65-mediated mitochondrial dynamics via EGF and Wnt signaling.Cell discovery · 2022Article
- Co-amplification of genes in chromosome 8q24: a robust prognostic marker in hepatocellular carcinoma.Journal of gastrointestinal oncology · 2021Article
- Depletion of TMEM65 leads to oxidative stress, apoptosis, induction of mitochondrial unfolded protein response, and upregulation of mitochondrial protein import receptor TOMM22.Biochemistry and biophysics reports · 2020Article
- High-throughput proteomics fiber typing (ProFiT) for comprehensive characterization of single skeletal muscle fibers.Skeletal muscle · 2020Article
- Transcriptome signature of ventricular arrhythmia in dilated cardiomyopathy reveals increased fibrosis and activated TP53.Journal of molecular and cellular cardiology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we investigated the location of TMEM65 by immunofluorescence staining of the protein and by immunoblotting of the isolated mitochondrial fractions in healthy fibroblasts and those from the patient. To study the function of TMEM65 we knocked down mRNA using TMEM65-specific siRNA, and measured mitochondrial function by enzymology, protein abundance and oxygen consumption rate in fibroblasts. Subcellular fractionation confirmed that the TMEM65 protein was present in the inner mitochondrial membrane. Knocking down TMEM65 expression in dermal fibroblasts severely affected mitochondrial content and respiration rate. Further evidence for the essential role of TMEM65 in mitochondrial function came from the demonstration of severe cellular and clinical consequences resulting from the novel TMEM65 gene mutation. In conclusion, these findings suggest that TMEM65, an inner mitochondrial membrane protein, plays a significant role in mitochondrial respiratory chain function. We also provide the first evidence that a mutation in the TMEM65 gene results in mitochondrial dysfunction and a severe mitochondrial encephalomyopathy phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.