ArticleNature communications2018
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 1 of them a synthesis that pooled it.
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Who cites it
76 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- Granular cell tumour of the pancreas: a case report and systematic review.Langenbeck's archives of surgery · 2023Pooled it
- Precision Radiotherapy: Reduction in Radiation for Oropharyngeal Cancer in the 30 ROC Trial.Journal of the National Cancer Institute · 2021Trial
- Niclosamide suppresses breast cancer progression and enhances paclitaxel sensitivity by targeting the ATP6AP1-YY1-XIAP axis.Acta pharmacologica Sinica · 2026Article
- Granular Cell Dermatofibroma Demonstrates Loss-of-Function Mutations in V-ATPase Component Genes.Journal of cutaneous pathology · 2026Article
- A mycobacterial Sec61 inhibitor disrupts lysosome function by blocking Vacuolar-ATPase biosynthesis.European journal of cell biology · 2026Article
- Targeting erythroid cell-derived asparagine inhibits alloimmunization in sickle cell disease.Blood advances · 2026Article
- When a Pulmonary Nodule Mimics Malignancy: Primary Granular Cell Tumor of the Lung.Diagnostics (Basel, Switzerland) · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Granular cell tumor mimicking breast carcinoma in a 49-year-old female: a case report.Frontiers in medicine · 2026Article
- Case Report: Granular cell tumor of the axillary tail mimicking node-positive breast carcinoma - two cases with imaging-pathology correlation.Frontiers in oncology · 2026Article
- Vacuolar-type HNature communications · 2025Article
- Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.American journal of human genetics · 2025Article
- Benign granular cell tumor of the abdominal wall mimicking postpartum desmoid tumor.Skeletal radiology · 2025Article
- Hybrid granular cell tumor/perineurioma: a report of two rare cases with PIK3CA mutations.Virchows Archiv : an international journal of pathology · 2025Article
- Pathogenic variants inmedRxiv : the preprint server for health sciences · 2025Article
- Genomic landscape of breast cancer in elderly patients.NPJ breast cancer · 2025Article
- ATP6AP1 promotes cell proliferation and tamoxifen resistance in luminal breast cancer by inducing autophagy.Cell death & disease · 2025Article
- A Granular Cell Tumor Arising in a Patient with Long-segment Barrett's Esophagus.Internal medicine (Tokyo, Japan) · 2025Article
- Lysosomal NKG7 restrains mTORC1 activity to promote CD8Nature communications · 2025Article
- Case Report: Malignant peripheral nerve sheath tumor of the kidney with a novel granular cell morphology.Frontiers in oncology · 2025Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors at 6 institutions in 4 countries.
Funding
Abstract
Granular cell tumors (GCTs) are rare tumors that can arise in multiple anatomical locations, and are characterized by abundant intracytoplasmic granules. The genetic drivers of GCTs are currently unknown. Here, we apply whole-exome sequencing and targeted sequencing analysis to reveal mutually exclusive, clonal, inactivating somatic mutations in the endosomal pH regulators ATP6AP1 or ATP6AP2 in 72% of GCTs. Silencing of these genes in vitro results in impaired vesicle acidification, redistribution of endosomal compartments, and accumulation of intracytoplasmic granules, recapitulating the cardinal phenotypic characteristics of GCTs and providing a novel genotypic-phenotypic correlation. In addition, depletion of ATP6AP1 or ATP6AP2 results in the acquisition of oncogenic properties. Our results demonstrate that inactivating mutations of ATP6AP1 and ATP6AP2 are likely oncogenic drivers of GCTs and underpin the genesis of the intracytoplasmic granules that characterize them, providing a genetic link between endosomal pH regulation and tumorigenesis.
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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.