ArticleHuman mutation2012
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.IUBMB life · 2025Review
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.Frontiers in genetics · 2022Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.Molecular genetics & genomic medicine · 2020Article
- Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.Biomedicines · 2020Review
- Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay.International journal of molecular sciences · 2020Review
- Absence of p.R50XDisease models & mechanisms · 2020Article
- Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.Case reports in genetics · 2020Article
- Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.Molecular medicine reports · 2019Article
- Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.Molecular and clinical oncology · 2018Article
- Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.Molecular medicine (Cambridge, Mass.) · 2018Review
- Analysis of ComplementFrontiers in immunology · 2017Article
- Nonsense-mediated mRNA decay in humans at a glance.Journal of cell science · 2016Review
- Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Molecular genetics & genomic medicine · 2014Article
- A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.Molecular genetics & genomic medicine · 2014Article
- Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Human mutation · 2014Article
- Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.Nucleic acid therapeutics · 2014Review
- Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.Neuromolecular medicine · 2013Article
- Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).European journal of human genetics : EJHG · 2013Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
A recent challenge for investigators studying the progressive neurological disease ataxia-telangiectasia (A-T) is to identify mutations whose effects might be alleviated by mutation-targeted therapies. We studied ATM mutations in eight families of Japanese A-T patients (JPAT) and were able to identify all 16 mutations. The probands were compound heterozygotes in seven families, and one (JPAT2) was homozygous for a frameshift mutation. All mutations--four frameshift, two nonsense, four large genomic deletions, and six affecting splicing--were novel except for c.748C>T found in family JPAT6 and c.2639-384A>G found in family JPAT11/12. Using an established lymphoblastoid cell line (LCL) of patient JPAT11, ATM protein was restored to levels approaching wild type by exposure to an antisense morpholino oligonucleotide designed to correct a pseudoexon splicing mutation. In addition, in an LCL from patient JPAT8/9, a heterozygous carrier of a nonsense mutation, ATM levels could also be partially restored by exposure to readthrough compounds (RTCs): an aminoglycoside, G418, and a novel small molecule identified in our laboratory, RTC13. Taken together, our results suggest that screening and functional characterization of the various sorts of mutations affecting the ATM gene can lead to better identification of A-T patients who are most likely to benefit from rapidly developing mutation-targeted therapeutic technologies.
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