Burak Sarıbaş
A5015912983- Nuclear Structure and Function
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Muscle Physiology and Disorders
Koç University
2023-2024
Genome Institute of Singapore
2023
Agency for Science, Technology and Research
2023
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Article18 January 2023Open Access Source DataTransparent process A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed RNA/SI-NET sequencing Nasrinsadat Nabavizadeh orcid.org/0000-0002-1629-6956 Laboratory of Human Genetics & Therapeutics, Genome Institute Singapore, A*STAR, Singapore City, Division Genetics, Department Cell and Molecular Biology Microbiology, Faculty Biological Science Technology, University Isfahan, Iran Medical Department, Koç School Medicine,...