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ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity

SMA with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) are results of mutations in immunoglobulin mu DNA binding protein 2 (IGHMBP2). IGHMBP2 is a UPF1-like helicase with proposed roles in several cellular processes, including translation. This study examines activator...

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Detalles Bibliográficos
Autores principales:	Vadla, Gangadhar P., Ricardez Hernandez, Sara M., Mao, Jiude, Garro-Kacher, Mona O., Lorson, Zachary C., Rice, Ronin P., Hansen, Sarah A., Lorson, Christian L., Singh, Kamal, Lorson, Monique A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977310/ https://www.ncbi.nlm.nih.gov/pubmed/36480289 http://dx.doi.org/10.1172/jci.insight.164608

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