Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Yazarlar (1)
Doç. Dr. Uğur AKPULAT Kastamonu Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Brain (Q1) | ||
| Dergi ISSN | 0006-8950 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 10-2017 |
| Cilt / Sayı / Sayfa | 140 / 11 / 2838–2850 | DOI | 10.1093/brain/awx249 |
| Makale Linki | https://doi.org/10.1093/brain/awx249 | ||
| UAK Araştırma Alanları |
Tıbbi Biyoloji
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| Özet |
| The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous choline transporter missense mutations. The clinical phenotype ranges from the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to a more severe spectrum with infantile lethality (p.Val112Glu). Cells transfected with mutant transporter construct revealed a virtually complete loss of transport activity that was paralleled by a reduction in transporter cell surface expression. Consistent with these findings … |
| Anahtar Kelimeler |
| choline uptake | CHT | CHT trafficking | congenital myasthenic syndrome | SLC5A7 |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 26 |
| Scopus | 29 |
| Google Scholar | 37 |