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Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFUsing disease-modifying treatments in multiple sclerosis: Association of British Neurologists (ABN) 2024 guidance.
Pract Neurol
January 2025
Department of Neurology, Royal London Hospital for Integrated Medicine, London, UK.
The Association of British Neurologists last published guidelines on disease-modifying treatment (DMT) in multiple sclerosis (MS) in 2015. Since then, additional DMTs have been licensed and approved for prescribing within the National Health Service for relapsing-remitting MS, early primary progressive MS and active secondary progressive MS. This updated guidance provides a consensus-based approach to using DMTs.
View Article and Find Full Text PDFNAT10 Mediates mRNA N4-acetylation and Promotes Drug Resistance of Myeloma Cells.
J Cancer
October 2024
Tianjin Key Laboratory of Bone Marrow Failure and Malignant Hemopoietic Clone Control; Tianjin Institute of Hematology; Department of Hematology, Tianjin Medical University General Hospital; Tianjin Medical University, Heping, Tianjin 300070 China.
The eventually developed chemoresistance to proteasome inhibitors (PIs) is a major hurdle in curing patients with multiple myeloma (MM) and a key cause of poor prognosis, however the underlying molecular mechanisms of chemoresistance is still poorly understood. Herein, we provide evidences that N-acetyltransferase 10 (NAT10), a catalytic enzyme involving in the acetylation modification of RNA, is overexpressed in the BTZ-resistant (BR) MM cell lines and predicts poor outcomes in the clinic. Further manipulating of NAT10 gene expression in MM cells shows that enforced NAT10 expression decreases sensitivity to PI, however knockdown of NAT10 enhances anti-tumor efficacy of PIs in MM cells and .
View Article and Find Full Text PDFANZTCT practice statement: sinusoidal obstruction syndrome/veno-occlusive disease diagnosis and management.
Intern Med J
September 2024
Department of Haematology, St Vincent's Hospital Sydney, Sydney, New South Wales, Australia.
Sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication which can develop after haemopoietic stem cell transplantation (HSCT) and some antibody-drug conjugates. Several SOS/VOD diagnostic and management guidelines exist, with the most recent and refined being the European Society for Blood and Marrow Transplantation adult and paediatric guidelines. Timely diagnosis and effective management (including the availability of therapeutic options) significantly contribute to improved patient outcomes.
View Article and Find Full Text PDFPost-transcriptional regulation of DEAD-box RNA helicases in hematopoietic malignancies.
Genes Dis
September 2024
Institute of Life Sciences, Chongqing Medical University, Chongqing 400016, China.
Hematopoiesis represents a meticulously regulated and dynamic biological process. Genetic aberrations affecting blood cells, induced by various factors, frequently give rise to hematological tumors. These instances are often accompanied by a multitude of abnormal post-transcriptional regulatory events, including RNA alternative splicing, RNA localization, RNA degradation, and storage.
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