ArticleProceedings of the National Academy of Sciences of the United States of America2003
Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 64 citations in OpenAlex.
- The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest.Haematologica · 2013Trial
- RAB23 facilitates clathrin-coated nascent vesicle formation at the plasma membrane and modulates cell signaling.Cellular and molecular life sciences : CMLS · 2025Article
- Picalm, a novel regulator of GLUT4-trafficking in adipose tissue.Molecular metabolism · 2024Article
- Review
- The role of Alzheimer's disease risk genes in endolysosomal pathways.Neurobiology of disease · 2022Review
- Multi-scale inference of genetic trait architecture using biologically annotated neural networks.PLoS genetics · 2021Article
- CALM supports clathrin-coated vesicle completion upon membrane tension increase.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Chlorpromazine eliminates acute myeloid leukemia cells by perturbing subcellular localization of FLT3-ITD and KIT-D816V.Nature communications · 2020Article
- Genome-Wide Analysis of circular RNAs and validation of hsa_circ_0006719 as a potential novel diagnostic biomarker in congenital scoliosis patients.Journal of cellular and molecular medicine · 2020Article
- Genome-wide transcriptomics identifies an early preclinical signature of prion infection.PLoS pathogens · 2020Article
- Acute myeloid leukemia driven by the CALM-AF10 fusion gene is dependent on BMI1.Experimental hematology · 2019Article
- Digoxin-induced anemia among patients with atrial fibrillation and heart failure: clinical data analysis and drug-gene interaction network.Oncotarget · 2017Article
- The target cell of transformation is distinct from the leukemia stem cell in murine CALM/AF10 leukemia models.Leukemia · 2016Article
- The Role of PICALM in Alzheimer's Disease.Molecular neurobiology · 2015Review
- CALM regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature.Developmental cell · 2015Article
- Role of the clathrin adaptor PICALM in normal hematopoiesis and polycythemia vera pathophysiology.Haematologica · 2015Article
- Article
- A dynamic alternative splicing program regulates gene expression during terminal erythropoiesis.Nucleic acids research · 2014Article
- Article
- A CALM-derived nuclear export signal is essential for CALM-AF10-mediated leukemogenesis.Blood · 2013Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive N-ethyl-N-nitrosourea (ENU)-induced mutations recovered at the fitness-1 (fit1) locus in mouse chromosome 7 cause hematopoietic abnormalities, growth retardation, and shortened life span, with varying severity of the defects in different alleles. Abnormal iron distribution and metabolism and frequent scoliosis have also been associated with an allele of intermediate severity (fit14R). We report that fit14R, as well as the most severe fit15R allele, are nonsense point mutations in the mouse ortholog of the human phosphatidylinositol-binding clathrin assembly protein (PICALM) gene, whose product is involved in clathrin-mediated endocytosis. A variety of leukemias and lymphomas have been associated with translocations that fuse human PICALM with the putative transcription factor gene AF10. The Picalmfit1-5R and Picalmfit1-4R mutations are splice-donor alterations resulting in transcripts that are less abundant than normal and missing exons 4 and 17, respectively. These exon deletions introduce premature termination codons predicted to truncate the proteins near the N and C termini, respectively. No mutations in the genes encoding Picalm, clathrin, or components of the adaptor protein complex 2 (AP2) have been previously described in which the suite of disorders present in the Picalmfit1 mutant mice is apparent. These mutants thus provide unique models for exploring how the endocytic function of mouse Picalm and the transport processes mediated by clathrin and the AP2 complex contribute to normal hematopoiesis, iron metabolism, and growth.
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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.