Ataxia-Telangiectasia — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
GPI inactivation mediates pentose phosphate pathway flux switch-on inducing temozolomide resistance in glioma stem cell.
Yin Jianxing et al. — Cancer letters (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41763452/
- 2.
Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.
Gorainow Nikita et al. — Cell death & disease (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41862449/
- 3.
Microenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.
Ialchina Renata et al. — iScience (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41852733/
- 4.
Discovery of dihydrospiro[cyclopropane-1,7'-pyrrolo[3,4-
Chen Xiaozhen et al. — RSC medicinal chemistry (16 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41847664/
- 5.
A phase 1 study of berzosertib (M6620, VX-970) in combination with cisplatin and radiation in patients with locally advanced head and neck squamous cell carcinoma (ETCTN 9950).
Bhatia Aarti et al. — Cancer (15 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41823504/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Pancreatic Cancer Early Detection Consortium
Recruiting — Arbor Research Collaborative for Health
https://clinicaltrials.gov/study/NCT04970056
- 2.
Tumor-agnostic Precision Immuno-oncology and Somatic Targeting Rational for You (TAPISTRY) Platform Study
Recruiting — Phase 2 — Hoffmann-La Roche
https://clinicaltrials.gov/study/NCT04589845
- 3.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Ataxia-Telangiectasia
Ataxia-telangiectasia is a rare progressive neurological condition caused by ATM gene mutations, impairing DNA repair. It causes cerebellar ataxia, telangiectasias (dilated blood vessels), immune deficiency, and a significantly elevated cancer risk. There is no cure, but a major Australian charity (BrAshA-T) funds research actively.
Most Recent Research
Temozolomide (TMZ) resistance in glioblastoma (GBM) remains a substantial clinical challenge. Targeting glioma stem cells (GSCs) represents a promising strategy to overcome chemoresistance and tumor recurrence. In this study, we found that GSCs maintain chemoresistance by increasing pentose phosphate pathway (PPP) flux compared with differentiated tumor cells. Following TMZ treatment, the activity of glucose-6-phosphate isomerase (GPI), a key glycolytic enzyme that catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, was significantly suppressed in GSCs. Mechanistically, Ataxia Telangiectasia Mutated (ATM), activated by TMZ-induced DNA damage, phosphorylates polo-like kinase 1 (PLK1), promoting its nuclear export. PLK1 subsequently phosphorylates GPI at T215, leading to suppression of GPI activity. Targeting the ATM/PLK1/GPI axis through combinational treatment with rigosertib may therefore represent a therapeutic strategy. Moreover, PLK1 expression and GPI pT215 levels may serve as potential candidate markers for GBM. Collectively, activation of the ATM/PLK1/GPI axis plays a critical role in regulating PPP flux and TMZ resistance in GSCs.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.