{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMutations in FTSJ1—an X‐chromosomal tRNA 2′‐O‐methyltransferase—are known to cause intellectual disability, and recent studies using an Ftsj1‐deficient mouse model have revealed that loss of this enzyme disrupts not only neuronal functions (as evidenced by impaired learning capacity) but also multiple peripheral systems. These disturbances encompass altered pain sensation (with a notable increase in pain threshold), dysregulation of bone and energy metabolism, changes in immune responses, and hormonal imbalances, suggesting that FTSJ1 is essential for maintaining proper cellular and tissue functions across diverse organ systems."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "Although the clinical presentation in human patients with FTSJ1 mutations may be variable and primarily characterized by intellectual disability, a re‐examination indicates that several systemic features observed in the mouse model are also relevant to patients. These findings underscore the multifaceted role of FTSJ1 in both neurological and non‐neurological processes, reinforcing the need to consider broader phenotypic consequences when evaluating FTSJ1 deficiency."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Lars R Jensen, Lillian Garrett, Sabine M Hölter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2018.12.011"}], "href": "https://doi.org/10.1016/j.bbadis.2018.12.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30557699"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30557699"}]}]}]}