Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
Yazarlar (56)
Prof. Dr. Dürdane AKSOY
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Türkiye
| Makale Türü |
Özgün Makale
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| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | BRAIN |
| Dergi ISSN | 0006-8950 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q1 |
| Makale Dili | İngilizce |
| Basım Tarihi | 03-2021 |
| Cilt No | 144 |
| Sayı | 3 |
| Sayfalar | 769 / 780 |
| DOI Numarası | 10.1093/brain/awaa459 |
| Makale Linki | http://dx.doi.org/10.1093/brain/awaa459 |
| Özet |
| Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson’s disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental … |
| Anahtar Kelimeler |
| cerebellar ataxia | membrane trafficking | neurodevelopmental disorder | VPS41 | zebrafish disease modelling |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 37 |
| Google Scholar | 54 |