Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. [5][6][7] It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. [8] .

2024年12月25日 · MBNL1 (Muscleblind Like Splicing Regulator 1) is a Protein Coding gene. Diseases associated with MBNL1 include Myotonic Dystrophy and Corneal Dystrophy, Fuchs Endothelial, 3. Among its related pathways is Adipogenesis. Gene Ontology (GO) annotations related to this gene include RNA binding and double-stranded RNA binding.

2020年5月12日 · MBNL1, a protein involved in alternative splicing, is consistently overexpressed in MLL-rearranged leukemias. We found that MBNL1 loss significantly impairs propagation of murine and human...

MBNL1 (muscleblind-like protein 1) is an alternative splicing factor that becomes highly concentrated with mutant RNA foci. The GFP-MBNL1 in CUG and CAG foci have similar half-times of recovery and fractions of immobile molecules, suggesting GFP-MBNL1 is bound by both CUG and CAG repeats and formation of RNA foci and disruption of MBNL1 ...

摘要：肌盲样蛋白1（muscleblind-likeprotein1,MBNL1）是一种 RNA结合蛋白 ，其作为前体信使RNA（precursormRNA,pre-mRNA）的可变剪接因子，在发育过程中起调节作用，有助于对特定转录集的转录后调控。

2025年2月8日 · Title: MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells. The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in glioblastoma cells by encoding a novel protein NTRK2-243aa.

2020年7月18日 · To investigate whether MBNL1 promotes proliferation by inhibiting autophagy via the mTOR pathway in DM1 SSCs, we performed western blot analysis, CCK-8 assays, and Ki67 immunofluorescence to ...

肌盲样蛋白1（muscle blind-like protein 1，MBNL1）是一种RNA结合蛋白，其作为前体信使RNA（precursor mRNA，pre-mRNA）的可变剪接因子，在发育过程中起调节作用，有助于对特定转录集的转录后调控。

2024年1月26日 · Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts.

2021年11月30日 · We demonstrate that inactivation of the Muscleblind-like proteins, Mbnl1 and Mbnl2, initiates brain structural defects. 2D FSE T2w MRIs on 4-month-old Mbnl1+/−/Mbnl2−/− mice demonstrate...

2018年2月27日 · In myotonic dystrophy, expanded CUG repeat RNA leads to MBNL1 deubiquitination, resulting in nuclear-translocation-associated morphological defects that can be rescued by preventing degradation of lysine 63-linked …

2014年9月2日 · Muscleblind-like (MBNL) proteins are key regulators of precursor and mature mRNA metabolism in mammals. Based on published and novel data, we explore models of tissue-specific MBNL interaction with RNA.

2025年2月8日 · MBNL1 regulates essential alternative RNA splicing patterns in MLL-rearranged leukemia. Study demonstrates that the RNA alternative splicing factor MBNL1, which is sequestered in nuclear RNA foci by C(C)UG microsatellite expansions in myotonic dystrophy (DM), is essential for normal thymus development and function.

Antisense protein MBNL1- AS1 can inhibit tumor cell proliferation and metastasis in colorectal cancer, non-small cell lung cancer, and gastric cancer. Conclusion: MBNL1 is an important regulator of tumor metastasis and growth, which exhibits a promising therapeutic target and can be further explored.

2023年6月9日 · Muscleblind-like (MBNL) proteins, implicated in myotonic dystrophy and cancer, localize RNAs to myoblast membranes and neurites through unknown mechanisms. We find that MBNL forms...

2014年7月24日 · MBNL1 regulates alternative splicing in terminal erythropoiesis. The scope and roles of regulated isoform gene expression during erythroid terminal development are poorly understood. We identified hundreds of differentiation …

2018年2月27日 · MBNL1 localization to the cytoplasm was regulated by K63-linked ubiquitination. MBNL1 mutation at a putative ubiquitination residue affected its cytoplasmic localization and impaired neurite outgrowth, so ubiquitination is required for the MBNL1 function in regulating neurite outgrowth.

In myotonic dystrophy, expanded CUG repeat RNA leads to MBNL1 deubiquitination, resulting in nuclear-translocation-associated morphological defects that can be rescued by preventing degradation of lysine 63-linked polyubiquitin chains or enhancing MBNL1 ubiquitination.

2015年12月16日 · Davis et al. describe a new regulatory mechanism underlying myofibroblast differentiation via the RNA-binding protein MBNL1, which promotes the maturation of certain mRNA transcripts that are ...

MBNL1, a protein involved in alternative splicing, is consistently overexpressed in MLL-rearranged leukemias. We found that MBNL1 loss significantly impairs propagation of murine and human MLL-rearranged leukemia in vitro and in vivo.