Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nucl...

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Veröffentlicht in:	American journal of human genetics 2023-04, Vol.110 (4), p.663-680
Hauptverfasser:	Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Alternative Splicing Child Child, Preschool DNA-Binding Proteins - genetics Female gene discovery HeLa Cells Humans Infant Male Mendelian disorder monogenic diseases Paraparesis, Spastic - genetics Pedigree progressive spasticity Protein Isoforms - genetics Protein Structure, Secondary rare diseases RNA, Small Nuclear - genetics RNA-Seq spliceosome Transcription Factors - genetics
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