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Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines
N-Glycanase 1 (NGLY1) deficiency is an ultra-rare, complex and devastating neuromuscular disease. Patients display multi-organ symptoms including developmental delays, movement disorders, seizures, constipation and lack of tear production. NGLY1 is a deglycosylating protein involved in the degradati...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Genetics Society of America
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202010/ https://www.ncbi.nlm.nih.gov/pubmed/32265286 http://dx.doi.org/10.1534/g3.119.401031 |