ArticleProceedings of the National Academy of Sciences of the United States of America1997
Association of the mammalian helicase MAH with the pre-mRNA splicing complex.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 51 citations in OpenAlex.
- The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation inFrontiers in genetics · 2025Article
- A novelFrontiers in pediatrics · 2024Article
- Validation of the Pathogenic Effect ofInternational journal of molecular sciences · 2022Article
- Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Molecular therapy. Methods & clinical development · 2021Article
- A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1.Molecular therapy. Methods & clinical development · 2018Article
- Clinical diversity caused by novel IGHMBP2 variants.Journal of human genetics · 2017Article
- Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.American journal of human genetics · 2014Article
- The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.Nucleic acids research · 2012Article
- RNA processing defects associated with diseases of the motor neuron.Muscle & nerve · 2010Review
- Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1).The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.Human molecular genetics · 2009Article
- Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.Journal of molecular medicine (Berlin, Germany) · 2009Article
- Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy.Journal of human genetics · 2005Article
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).American journal of human genetics · 2004Article
- Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.Human molecular genetics · 2004Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Conversion of pre-mRNAs into mature mRNAs includes several consecutive enzymatic modification steps that are carried out in the spliceosomes. Helicases have been shown to contribute to these catalytic processes both in yeast and in mammalian cells. Our results identify the mammalian protein MAH (matrix-associated helicase) as a new helicase present in the spliceosome complex. Sequence comparison describes MAH as the first higher eukaryotic member of the helicase superfamily I, with demonstrated enzymatic activity. Because MAH does not bind small nuclear ribonucleoproteins (snRNPs), it appears to be a non-snRNP binding factor of the splicing complex. In conclusion, our data suggest the involvement of MAH in processing of pre-mRNAs in mammalian cells.
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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.