A Ataxia-telangiectasia é uma condição que combina uma falha grave no sistema de defesa do corpo (que atrapalha principalmente a produção de anticorpos para combater doenças) com uma falta de coordenação que vai piorando com o tempo, causada por problemas no cerebelo (a parte do cérebro que controla o equilíbrio e os movimentos). Ela se manifesta com sintomas neurológicos, como a própria falta de coordenação, vasinhos vermelhos visíveis na pele e nos olhos (chamados telangiectasias), maior facilidade para pegar infecções e um risco mais alto de desenvolver câncer.
Introdução
O que você precisa saber de cara
A Ataxia-telangiectasia é uma condição que combina uma falha grave no sistema de defesa do corpo (que atrapalha principalmente a produção de anticorpos para combater doenças) com uma falta de coordenação que vai piorando com o tempo, causada por problemas no cerebelo (a parte do cérebro que controla o equilíbrio e os movimentos). Ela se manifesta com sintomas neurológicos, como a própria falta de coordenação, vasinhos vermelhos visíveis na pele e nos olhos (chamados telangiectasias), maior facilidade para pegar infecções e um risco mais alto de desenvolver câncer.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 32 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor (PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15064416, PubMed:15448695, PubMed:15456891, PubMed:15790808, PubMed:15916964, PubMed:17923702, PubMed:21757780, PubMed:24534091, PubMed:35076389, PubMed:9733514). Recognizes the substrate c
NucleusCytoplasmic vesicleCytoplasm, cytoskeleton, microtubule organizing center, centrosomePeroxisome matrix
Ataxia telangiectasia
A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
Medicamentos e terapias
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: GABA-B receptor agonist
Variantes genéticas (ClinVar)
9,220 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15,523 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
28 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Ataxia-telangiectasia
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
58 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.110
IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
Prezado(a) usuário(a), Primeiramente, é importante esclarecer que, embora o termo "Ataxia-telangiectasia mutated (ATM)" apareça no artigo como parte de uma via de sinalização, este estudo não é focado na doença genética Ataxia-telangiectasia em si, mas sim na Lesão Renal Aguda (LRA). Aqui está o resumo focado na LRA, relevante para pacientes e médicos: Este artigo revela que a proteína IFI16 está elevada na Lesão Renal Aguda (LRA) e desempenha um papel crucial ao ligar o dano ao DNA à ferroptose – um tipo de morte celular – nas células renais. A IFI16 ativa uma via de sinalização que leva à peroxidação lipídica e acúmulo de ferro, causando a morte das células renais, o que agrava a LRA. Essa descoberta é de grande importância para pacientes e médicos, pois identifica a IFI16 como um alvo terapêutico promissor para novas estratégias de tratamento e prevenção da Lesão Renal Aguda.
🇧🇷 traduzidoBerzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.
Este estudo pré-clínico aborda o glioma difuso de linha média (DMG), um câncer cerebral pediátrico fatal, para o qual a radioterapia é o principal tratamento, mas com resultados limitados. A pesquisa identificou que o berzosertib, um medicamento que inibe a proteína ATR (relacionada à Ataxia-telangiectasia e essencial na resposta ao dano de DNA), aumenta significativamente a sensibilidade das células de DMG à radioterapia. Isso sugere uma nova e promissora estratégia para pacientes e médicos: a combinação de inibidores de ATR, como o berzosertib, com a radioterapia pode potencializar a eficácia do tratamento e melhorar o prognóstico desta doença devastadora.
🇧🇷 traduzidoMicroenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.
Este estudo mostra que, no câncer de pâncreas com deficiência da proteína p53, um ambiente tumoral ácido cria resistência a tratamentos que inibem as proteínas ATM e PARP, sendo a ATM a proteína afetada na Ataxia-telangiectasia. Essa acidez ajuda as células cancerosas a manterem seu pH interno, dificultando a ação dos medicamentos. Para pacientes com câncer de pâncreas deficiente em p53, a pesquisa sugere que combinar inibidores de ATM/PARP com medicamentos que regulam o pH das células tumorais pode ser uma estratégia promissora para superar essa resistência e melhorar a eficácia do tratamento.
🇧🇷 traduzidoSerum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.
Este estudo detalha a utilidade da alfa-fetoproteína (AFP) como biomarcador para a Ataxia-Telangiectasia (A-T), uma doença neurodegenerativa rara. Revelou que, embora a AFP seja um indicador diagnóstico e seus níveis geralmente aumentem progressivamente com a idade na A-T clássica (atingindo um platô por volta dos 18 anos), é crucial que pacientes e médicos saibam que os níveis podem estar normais nos primeiros dois anos de vida. Contudo, após os 3 anos (na A-T clássica) e em pacientes com A-T variante, níveis normais de AFP foram incomuns. Assim, o monitoramento da AFP é valioso tanto para o diagnóstico (com cautela na primeira infância) quanto para acompanhar a progressão da doença e avaliar a eficácia de futuras terapias.
🇧🇷 traduzidoCase Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
Este caso descreve uma complicação rara e grave em pacientes com Ataxia-telangiectasia (AT): a cistite hemorrágica severa, associada a telangiectasias na bexiga e possivelmente exacerbada por quimioterapia, como a ciclofosfamida. Para pacientes e médicos, é crucial estar ciente deste risco tardio e potencialmente fatal. A cistoscopia é essencial tanto para o diagnóstico preciso quanto para o tratamento endoscópico eficaz, permitindo o controle da hemorragia.
🇧🇷 traduzidoPublicações recentes
Synergistic nanomedicine overcomes hypoxia-driven DNA repair to potentiate radiotherapy for lung adenocarcinoma.
🥉 Relato de casoTopoisomerase I inhibitor antibody-drug conjugates in breast cancer: the relevance of the DNA damage response to resistance, response, and combination treatment strategies.
A dual role for cGAS in shaping cellular and organismal responses to genomic instability.
ATR and PKMYT1 inhibition re-sensitize a subset of TNBC patient-derived models to carboplatin inducing mitotic catastrophe.
ATM inhibition restores IFN-γ sensitivity and induces ferroptosis in NSCLC via DNA damage response.
🥈 Ensaio clínico📚 EuropePMC2.720 artigos no totalmostrando 199
IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
Cell death & diseaseThe Effect of AZD5153 on Radiosensitivity in Pancreatic Cancer Cells Through ATM-chk1 Pathway.
Drug design, development and therapyAptamer-functionalized exosomes combined with doxorubicin suppress GBM progression and enhance chemoradiosensitivity by promoting pyroptosis.
Materials today. BioBerzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.
Cell death & diseaseDiscovery of GBA-16-24 as a highly potent, selective ATR inhibitor for the treatment of FLT3-mutated acute myeloid leukemia.
RSC medicinal chemistryMicroenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.
iScienceRichard Gatti: From concert pianist to bone marrow transplants and the DNA damage response syndrome, ataxia-telangiectasia.
DNA repairGenomic Features and Response to Poly(ADP-ribose) Polymerase Inhibition in Metastatic Castration-Resistant Prostate Cancer.
JCO precision oncologyDiscovery of dihydrospiro[cyclopropane-1,7'-pyrrolo[3,4-d]pyrimidine] derivatives as novel ATR inhibitors.
RSC medicinal chemistrySerum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCase Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
Frontiers in pediatricsRethinking Corticosteroid Therapy in Pediatric Neurology.
Journal of inflammation researchHepatitis C Virus Core Induces p53 Ser-15 Phosphorylation to Facilitate E6-Associated Protein-Mediated Proteasomal Degradation of p53.
CellsATR Blockade Potentiates the Effects of Genotoxic Agents In Vitro and Promotes Antitumor Immunity in a Mouse Model of Non-Small Cell Lung Cancer.
CancersPOLQ promotes tumor progression and immunosuppression via ATM‑P53 signaling in endometrial cancer.
Oncology reportsA 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).
CancercGAS/STING-mediated upregulation of NKG2D ligands in LSCs contributes to enhanced sensitivity to NK cells.
Frontiers in oncologyTherapy With Doxycycline and Hydroxychloroquine Enables Surgical Excision of Ulcerated Cutaneous Granulomas in a Patient With Ataxia Telangiectasia.
Pediatric dermatologyNext Generation DNA Damage Response Inhibitors: Harnessing Nanocarriers and Tumor Microenvironment for Precision Cancer Therapy.
Oncology researchPrognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.
Oncology researchPhysalin A interferes with cell cycle in human oral squamous carcinoma cells via DNA topoisomerase II/ATM/ATR/Chk signaling for G2/M phase arrest.
Archives of biochemistry and biophysicsDifferential modulation of haematopoietic and oxidative injury by PARP-1 and ATR kinase inhibition in a murine model of acute irradiation.
PloS oneZFP161 promotes colorectal cancer progression by transcriptionally activating c-MYC.
Frontiers in oncologyInhibition of Autophagy Reveals ATR Protein Kinase as a Key Mediator of Cisplatin Sensitivity in Osteosarcoma.
Cancer medicineDesign and Synthesis of Pyrrolo[3,4-d]pyrimidine-Based ATR Degraders for Effective Treatment of Colorectal Cancer in Mouse Model.
Journal of medicinal chemistryTargeting ATR in Cancer therapy: A drug discovery perspective.
Bioorganic chemistryMolecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.
CureusTargeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia.
Cell death & diseaseGPI inactivation mediates pentose phosphate pathway flux switch-on inducing temozolomide resistance in glioma stem cell.
Cancer lettersNeonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
Frontiers in bioscience (Landmark edition)Dysregulation of the DNA damage response by phosphorothioate antisense oligonucleotides.
Nature communicationsBRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report.
Frontiers in pediatricsFirst 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Frontiers in immunologyEsophageal Cancer Cells Exhibit Heterogeneity in DNA Double-Strand Break Repair and G2/M Checkpoint Arrest Associated With Cell Viability After Ionizing Radiation.
Advances in radiation oncologyPharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Journal of inherited metabolic diseaseEndogenous inhibitors of PP2A activate oncogenic and DNA damage response kinases in glioblastoma.
Cancer lettersAll-trans retinoic acid enhances the anti-angiogenic effects of hemoporfin-mediated photodynamic therapy via the ATM-SerRS-VEGFA axis in endothelial cells.
Photodiagnosis and photodynamic therapyLarge-scale mapping of environmental-genetic interactions illustrates the dynamic nature of cell-cycle and DNA repair regulation.
Molecular cellNovel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Journal of translational medicineAnalysis of the regulation of model parameters on delay time in the p53 dynamical response to single-stranded breaks.
Journal of bioinformatics and computational biologyIncorporating Patient Perspectives into a Composite Score for Measuring Disease Progression in Spinocerebellar Ataxia (SCA).
Neurology and therapyComputational and Experimental Verification of Cabozantinib Targeting DDX11 to Inhibit DNA Damage Repair in Liver Cancer.
ACS omegaMalignancies in the context of Inborn errors of immunity: an immunologist's view.
Expert review of clinical immunologyEnergetically equivalent structural transitions in the Rad17-Rad9-Hus1-Rad1-Rhino complex underlie the sequential progression from activation through maintenance to inactivation of the ATR-dependent DNA damage response.
Nucleic acids researchM1C mediates LINE-1 transcription in PARP inhibitor-treated prostate cancer cells.
Cancer lettersRewiring melanoma cell fate: TRPM8 modulators trigger apoptosis and boost NK cell cytotoxicity.
Cell death & diseaseTargeting ATR-CHK1 and ATM-CHK2 Axes in Pancreatic Cancer-A Comprehensive Review of Literature.
International journal of molecular sciencesRAD51 succinylation regulates homologous recombination and contributes to the chemosensitivity in cancer.
Molecular cellComparing and combining xevinapant with ATR and PARP inhibition for the radiosensitization of HPV-negative HNSCC cells.
Scientific reportsAtaxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.
Pediatrics international : official journal of the Japan Pediatric SocietyAtaxia-telangiectasia mutated kinase inhibition overcomes gemcitabine resistance in intrahepatic cholangiocarcinoma via DNA ligase I-dependent repair vulnerability.
Cancer gene therapyEvaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy.
Pediatric researchATM Inhibition Enhances Knock-in Efficiency by Suppressing AAV-Induced Activation of Apoptotic Pathways.
Communications biologyTargeting ATR signaling in sarcoma with homologous recombination deficiency.
Cancer lettersTargeting Galectin-9 to overcome immunosuppression and potentiate ATR inhibitor therapy.
Cancer lettersImmunotherapy response in microsatellite-stable poorly differentiated thyroid carcinoma with mismatch repair deficiency and high tumor mutational burden.
Archives of endocrinology and metabolismOrthogonally targeted tumor radiosensitization using cell penetrating peptide-ATM inhibitor conjugates to stimulate anti-tumor immune responses.
bioRxiv : the preprint server for biology[Homologous recombination repair gene variants in hormone-sensitive prostate cancer].
Zhonghua bing li xue za zhi = Chinese journal of pathologyPrecise control of transcription condensates across S phase balances linker histone expression with DNA replication, ensuring genome stability.
Molecular cellDGCR8 regulates multiple processes of transcription coupled nucleotide excision repair.
Scientific reportsRPA-independent activation of the ATR/CHK1 pathway.
Proceedings of the National Academy of Sciences of the United States of AmericaNovel radiation-activated N-oxide prodrugs for highly selective and synergistic tumor therapy to promote DNA damage and the ATM/ATR pathway.
Chemical communications (Cambridge, England)The crosstalk between chaperone-mediated autophagy and apoptosis via ATM/p53-mitochondria-dependent signaling contributed to ischemia-induced cerebral injuries.
Experimental neurologyActivation of the ATM-Chk2 DNA damage response pathway by Newcastle disease virus enhances viral replication.
Veterinary researchATR inhibitors: from targeting the DNA damage response to exploiting synthetic lethality-A paradigm shift in Cancer therapy.
Bioorganic chemistryHypoxia facilitates triple-negative breast cancer stem cells enrichment and stemness maintenance through oxidized ataxia telangiectasia mutated-induced one-carbon metabolism.
World journal of stem cellsRecent advances in small molecule ATR kinase inhibitors as anticancer agents.
Future medicinal chemistryNovel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report.
CureusDaxx-Dependent H3.3 Deposition Promotes Double-Strand Breaks Repair by Homologous Recombination.
CellsChloroquine Potentiates the Chemotherapeutic Effect of Carboplatin and ATR/Chk1 Inhibitors by Increasing the Replication Stress.
International journal of molecular sciencesExperimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
International journal of molecular sciencesPrevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.
GenesTranscriptional Profiling Reveals Lineage-Specific Characteristics in ATR/CHK1 Inhibitor-Resistant Endometrial Cancer.
BiomoleculesCaffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells.
BiomoleculesThe multifaceted role of antimicrobial peptides in neurodegeneration: Insights from Drosophila and beyond.
Advances in protein chemistry and structural biologyEx Vivo Immuno-Oncology Platform Reveals Spatial T Cell Infiltration Patterns Linked to ATR Inhibition Responses in High-Grade Serous Ovarian Cancer.
Cancer immunology researchCamonsertib, an ATRi, in Combination with Low-Dose Gemcitabine in Solid Tumors with DNA Damage Response (DDR) Aberrations: Preclinical and Phase 1b Results.
Clinical cancer research : an official journal of the American Association for Cancer ResearchREV7 associates with ATRIP and inhibits ATR kinase activity.
Nucleic acids researchIncreased sensitivity of etoposide-treated breast cancer cells with an ATM inhibitor.
PloS oneCall for action: misinformation about Tourette syndrome from major media network.
European child & adolescent psychiatryGermline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Acta neuropathologicaLoss of ATM causes R-loop-associated transcriptional dysregulation and attenuates the related response to DNA damage.
The Journal of biological chemistryOlaparib in Patients With Solid Tumors With ATM Alterations: Results From the Targeted Agent and Profiling Utilization Registry (TAPUR) Study.
JCO precision oncologyPathway for the Development of ATR Inhibitors in Pediatric Malignancies: An ACCELERATE Multistakeholder Analysis.
JCO precision oncologyVisualization and quantification of rDNA instabilities in mammalian cells and mouse models.
Nucleic acids researchATM kinase phosphorylates HSP90 on T297 changing its conformation dynamics and promoting its interaction with HER2 receptor tyrosine kinase.
Biochimica et biophysica acta. Molecular cell researchHMGB1 Assists in Overcoming Cisplatin Resistance in Chemoresistant Human Ovarian Cancer Cells.
Molecular carcinogenesisThe FANCD2-FANCI heterodimer coordinates chromatin openness and cell cycle progression throughout DNA double-strand break repair.
Cell reportsMRE11 deacetylation by SIRT2 promotes DNA binding to facilitate DNA end resection and ATM-dependent signaling.
The Journal of clinical investigationGenetic Regulation of DNA Double-Strand Breaks and Repair Pathways.
Frontiers in bioscience (Scholar edition)Recent development of ATR inhibitors for cancer therapy.
European journal of medicinal chemistryDifferential roles of type I topoisomerases in regulating HPV pathogenesis.
Proceedings of the National Academy of Sciences of the United States of AmericaReplication-associated base excision repair/single-strand break repair regulates PARG inhibitor response via the PRMT1/PRMT5/ATR axis.
NAR cancerISG15 dysregulates endoplasmic reticulum-mitochondrial contacts and calcium homeostasis in Ataxia telangiectasia.
Cellular signallingTranslational Aspects of DNA Damage Repair in Optimizing Cancer Chemotherapy.
Advanced genetics (Hoboken, N.J.)Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia.
BMJ case reportsPhosphoregulation for Therapeutic Interventions in Cancer? Phosphoregulatory Map of Checkpoint Kinase 1 (CHK1) Uncovers Unexplored Regulatory Layers.
Omics : a journal of integrative biologyStem cell models in ataxia-telangiectasia.
Neural regeneration researchPaclitaxel-Loaded Polyelectrolyte Nanocarriers: Uptake Mechanisms, Cytotoxicity, and Genotoxicity in Human Endothelial and Breast Cancer Cells.
Nanotechnology, science and applicationsA 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.
Clinical medicine insights. Case reportsRb1 deficiency induces synthetic lethality with ATR and PKMYT1 coinhibition in breast cancer cell lines and patient-derived xenografts.
Science translational medicineA Novel ATRIP Mutation Detected in an Iranian Family with Familial Clustering of Breast Cancer: A Case Report.
Current oncology (Toronto, Ont.)Enhanced ELL Phase Separation Is Crucial for Efficient DNA Damage Repair to Restart Transcription and Cell Survival.
Molecular and cellular biologyA phase II, multicenter, open-label, single-arm study of berzosertib plus topotecan in patients with relapsed platinum-resistant small-cell lung cancer (DDRiver SCLC 250).
ESMO openDefects in DNA damage signaling and cell cycle checkpoints in a mouse model of Rhno1 deletion.
Cell death discoveryATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation.
Proceedings of the National Academy of Sciences of the United States of AmericaThe ATR inhibitor tuvusertib (M1774) sensitizes prostate carcinoma to natural killer cell-mediated cytotoxicity, which is further augmented by the IL-15 receptor superagonist N-803.
Cancer immunology, immunotherapy : CIITNXB modulates radiosensitivity of esophageal cancer through the ATM/P53 pathway.
American journal of translational researchRB dependent transcriptional regulation at mitotic centromeres preserves genome stability.
Life science allianceThe efficacy and safety of ATR inhibitors in the treatment of solid tumors: a systematic review and meta-analysis.
Frontiers in oncologyAuranofin attenuates TOPBP1-mediated ATR replication stress response and improves chemotherapeutic response in breast tumor models.
The Journal of clinical investigationSmall intestinal SMARCA4-deficient undifferentiated carcinoma with intussusception: A case report.
Oncology lettersTargeting synthetic lethality: an effective therapeutic approach in ovarian and endometrial cancers.
Therapeutic advances in medical oncologyA Parent's Perspective on Systemic Gaps in Supporting Complex Pediatric Care at Home.
Journal of patient experienceATR&RNASEL germline variants: novel findings in a case of familial cancer.
Molecular genetics and genomics : MGGNRF1-mediated innate immune response drives inflammaging.
Nature communicationsFerroptosis at the intersection of radiotherapy and immunotherapy.
Cancer metastasis reviewsAtaxia-telangiectasia mutated activation mediates transforming growth factor beta signaling in acetaminophen-induced liver injury in mice.
Physiological reportsComparative analysis of molecular targeted radiosensitizers in 2D and 3D cancer cell line models.
Acta oncologica (Stockholm, Sweden)Ceralasertib, an ATR kinase inhibitor, as monotherapy in Japanese patients with advanced solid malignancies: Results from a phase 1 study.
Investigational new drugsManganese mediates antiviral effects by driving an ATM -TBK1 phosphorylation signaling pathway.
Frontiers in immunologyNCI 10211: a phase II, single-arm study of berzosertib in combination with irinotecan in patients with advanced TP53 mutant gastroesophageal cancer.
The oncologistInhibiting sirtuin-dependent DNA repair and oxidative stress responses impairs DIPG cell survival.
Research squareNuclear actin and DNA replication stress regulate telomere maintenance by telomerase.
Nature communicationsAttenuation of ATM signaling by ROS delays replicative senescence at physiological oxygen.
Molecular cellImmunodeficiency and hemolytic uremic syndrome: a case report.
The Turkish journal of pediatricsATM promotes bone metastatic propensity of breast cancer by inducing osteoclastogenesis via the NFκB-CCL2 pathway.
Acta pharmacologica SinicaHepatitis B viral DNA integration occurs within three days of infection and is enhanced by ATR inhibition.
Tumour virus researchWhen the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia.
Oxford medical case reportsAurora kinase B phosphorylates ZBP1 to drive PANoptosis following treatment with PARP and ATR inhibitors combination.
Nature communicationsRare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.
GenesClinical and molecular variations in Burkitt lymphoma.
Translational oncologyIdentifying Distinct Tourette Disorder Subtypes using Clinical Data.
medRxiv : the preprint server for health sciencesTIPIN coordinates ATM-dependent checkpoint and NF-κB signaling to counteract DNA replication damage from topoisomerase inhibition.
Communications biologyComputational modeling of ATM signaling: a predictive framework for drug repurposing in ataxia-telangiectasia.
NPJ systems biology and applicationsATR, a DNA damage kinase, modulates DNA replication timing in Leishmania major.
PLoS geneticsATM promotes reversed fork processing during DNA interstrand cross-link repair.
bioRxiv : the preprint server for biologyAtMCM10 facilitates SDSA-mediated intermolecular homologous recombination repair via liquid-liquid phase separation in DNA damage response.
Nature communicationsAtaxia Telangiectasia Mutated (ATM) gene alterations as biomarkers of response to immune checkpoint inhibitors.
ImmunotherapyPARP inhibitor BMN673 triggers PARylation-mediated ATF4-GDF15 pathway to drive autophagy and ferroptosis in ataxia telangiectasia mutated gene-deficient colorectal cancer cells.
Molecular biomedicineNuclear DAB2IP regulates DNA replication initiation through activating PLK1-mediated HBO1 phosphorylation.
Nucleic acids researchBeyond the nucleus: the ATM-CHEK2 axis senses mtROS to orchestrate mitophagy.
AutophagyTargeting DNA Damage Repair Pathways Beyond PARP Inhibition.
Targeted oncologyE0703 targets ERβ to facilitate the upregulation of GLI3, thereby alleviating irradiation-induced DNA damage on lymphocytes.
Cellular & molecular biology lettersProteomic sensors for quantitative multiplexed and spatial monitoring of kinase signaling.
Nature communicationsUltra-low background radiation inhibits head and neck tumor via ATM downregulation mediated mitochondrial dysfunction.
Cancer lettersGeneration of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
The Journal of pathologyFeedforward miR-181d degradation modulates population variance of methyl-guanine methyl transferase and temozolomide resistance.
Cell reportsRecent progress in developing ATR inhibitors as anticancer agents.
Biochemical pharmacologyPhase Ib study of berzosertib, carboplatin, gemcitabine, and pembrolizumab in patients with squamous nonsmall lung cancer (ETCTN 10313).
The oncologistThe Relationship Between Insulin Resistance and Cancer in Humans.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeThe role of ATM in sodium butyrate-mediated inhibition of macrophage polarization.
Biochimica et biophysica acta. General subjectsWDFY2 promotes MRN complex formation required for homologous recombination-mediated DNA repair.
Cell reportsFunctional genomics and tumor microenvironment analysis reveal prognostic biological subtypes in Mantle cell lymphoma.
Nature communicationsShining light on drug discovery: optogenetic screening for TopBP1 biomolecular condensate inhibitors.
NAR cancerMolecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.
Movement disorders clinical practiceDual inhibition of ATR and PARP reverses acquired PARP inhibitor resistance in triple negative breast cancer.
Discover oncologyMelatonin inhibits ferroptosis in myocardial ischemia/reperfusion injury by inhibiting the ATM/p53 signaling pathway.
Redox report : communications in free radical researchNegative feedback regulation of CHK2 in VIN18 raft cultures naturally infected with HPV18.
Virus researchTargeting the ATM-TGS1-BRCA1 Axis Overcomes Genotoxic Therapy Resistance in Pancreatic Adenocarcinoma.
Cancer researchCharacteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.
CureusFive Years of Combined Newborn Screening Quantifying TREC and KREC in Switzerland.
The journal of allergy and clinical immunology. In practiceLnk deficiency enhances translesion synthesis to alleviate replication stress and promote hematopoietic stem cell fitness.
The Journal of clinical investigationAssociation of DDR pathway proteins and breast cancer risk in a Pakistani population.
Future oncology (London, England)Defect of MLH1 expression sensitized esophageal squamous cell carcinoma cells to Polθ inhibitor.
EpigenomicsEnvironmental chromium and cadmium co-exposure induces GADD45A-mediated rDNA instability in human cohorts and cell models.
Chemico-biological interactionsPhase 1 clinical trial of the ataxia telangiectasia and Rad3-related inhibitor berzosertib with irinotecan in patients with advanced solid tumors (ETCTN 9938).
CancerLets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025.
DNA repairH2BK120ub and its reader RNF169 sequentially regulate replication fork remodeling and stability.
The EMBO journalChinese herbal prescription JZ-1 enhances host resistance to herpes simplex virus type 2 through regulating the MRN-ATM-CHK2 DNA damage response.
Journal of ethnopharmacologyC1orf116 inhibits acquired resistance to EGFR inhibitors in EGFR mutant lung adenocarcinoma by suppressing the ATM/ATR pathways.
Translational lung cancer researchDiversity of oxidative stress and senescence phenotypes induced by chemotherapeutic agents in HUVECs.
Scientific reportsAlpha-ketoglutarate mitigates insulin resistance and metabolic inflexibility in a mouse model of Ataxia-Telangiectasia.
Nature communicationsPhosphorylation of RNF213 by ATM-mediated ubiquitination of RPA1 regulates homologous recombination repair and chemosensitivity.
Cell death & diseaseTopBP1 biomolecular condensates as a new therapeutic target in advanced-stage colorectal cancer.
eLifeZDHHC20-mediated S-palmitoylation of KAP1/TRIM28 promotes DNA damage repair.
OncogeneIntractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.
BMC medical genomicsThe ATR Inhibitor Elimusertib in Combination with Cisplatin in Patients with Advanced Solid Tumors: A California Cancer Consortium Phase I Trial (NCI 10404).
Cancer research communicationsAtaxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge.
CureusSenataxin promotes recombination fidelity during antigen receptor gene diversification.
Science signalingImpact of SAMHD1 and phosphorylated ATM levels on the progression and prognosis of patients with soft tissue sarcoma.
Oncology lettersDifferential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.
Human molecular geneticsTargeting the ATM-TRMT10A-BRCA1 axis confers synthetic lethality to PARP inhibition in metastatic castration-resistant prostate cancer.
Science advancesPathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.
JAMA oncologyMapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation.
Molecular biology reportsProlactin and DNA damage trigger an anti-breast cancer cell immune response.
Frontiers in endocrinologyAllium sativum lectin as an immunotherapeutic agent: Eliciting IFN-γ production via "M1" macrophage polarization to trigger JAK1/STAT1 and DDR mediated lung cancer cell death.
International journal of biological macromoleculesQuantitative digital pathology reveals morphological and molecular correlates of tumor aggressiveness in prostate cancer.
International urology and nephrologyAnti-colorectal cancer bioactive metabolites from endophytic fungi of Pyrola spp. targeting p-ATM/P53 pathway driven by in vitro experiments and network pharmacology.
FitoterapiaModelling-filtered drug repurposing and first-in-protein SPR validation of histone deacetylase 4 inhibitors for Ataxia-telangiectasia.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieExpanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.
Orphanet journal of rare diseasesCell death mechanisms induced by gold nano-immunoconjugates-mediated photodynamic therapy against human oesophageal cancer stem cells.
Frontiers in immunologyIFI16 Enhances Chemosensitivity of Breast Cancer Cells by Inhibiting DNA Damage Response.
Biomolecules & therapeuticsNucleolar stress facilitates islet β cell senescence via hijacking the DNA damage response pathways.
iScienceMitochondrial ROS triggers mitophagy through activating the DNA damage response signaling pathway.
Proceedings of the National Academy of Sciences of the United States of AmericaFundamental prognostic difference of ATM gene mutation and deletion in newly diagnosed mantle cell lymphoma.
Molecular medicine (Cambridge, Mass.)Orthopedic manifestations of ataxia telangiectasia in children.
Journal of pediatric orthopedics. Part BMortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis.
Mutation research. Reviews in mutation researchDNA Damage and Repair in Ovarian Cancer: Focus on MicroRNAs.
CancersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Doença de Machado-Joseph.
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Ataxia-telangiectasia
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
- Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.
- Microenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.
- Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41844009mais citado
- Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
- Synergistic nanomedicine overcomes hypoxia-driven DNA repair to potentiate radiotherapy for lung adenocarcinoma.
- Topoisomerase I inhibitor antibody-drug conjugates in breast cancer: the relevance of the DNA damage response to resistance, response, and combination treatment strategies.
- A dual role for cGAS in shaping cellular and organismal responses to genomic instability.
- ATR and PKMYT1 inhibition re-sensitize a subset of TNBC patient-derived models to carboplatin inducing mitotic catastrophe.
- ATM inhibition restores IFN-γ sensitivity and induces ferroptosis in NSCLC via DNA damage response.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:100(Orphanet)
- OMIM OMIM:208900(OMIM)
- MONDO:0008840(MONDO)
- GARD:5862(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q387082(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
