ArticleAmerican journal of human genetics2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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Who cites it
82 citing papers in PubMed, 142 citations in OpenAlex.
- Review
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- Reconnaissance of the Good, the Bad, and the Ugly Role of tRNAs in Carcinogenesis and Metastasis.Experientia supplementum (2012) · 2026Review
- Role of tRNA-Derived Fragments and Their Modifications in the Pathogenesis and Treatment of Alzheimer's Disease.Molecular neurobiology · 2025Review
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- The emerging roles of long non-coding RNAs in the nervous system.Nature reviews. Neuroscience · 2025Review
- Targeting tRNA methyltransferases: from molecular mechanisms to drug discovery.Science China. Life sciences · 2025Review
- Review
- METTL1-mediated mCell death & disease · 2025Article
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- Decoding tRNA dynamics in neuroimmune disorders: mechanistic insights, diagnostic innovations, and therapeutic opportunities.Frontiers in immunology · 2025Review
- Pathogenic mechanism and therapeutic intervention of impaired NProceedings of the National Academy of Sciences of the United States of America · 2024Article
- TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice.Nucleic acids research · 2024Article
- Identification of Amino Acids in Trm734 Required for 2'-ACS omega · 2024Article
- Advances in brain epitranscriptomics research and translational opportunities.Molecular psychiatry · 2024Review
- RNA modification: mechanisms and therapeutic targets.Molecular biomedicine · 2023Review
- The life and times of a tRNA.RNA (New York, N.Y.) · 2023Review
- The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Life science alliance · 2023Article
- Epitranscriptomic dynamics in brain development and disease.Molecular psychiatry · 2022Review
22 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families--one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.
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