Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Yazarlar (1)
Doç. Dr. Uğur AKPULAT Kastamonu Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
|
||
| Dergi Adı | American Journal of Human Genetics (Q1) | ||
| Dergi ISSN | 0002-9297 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 09-2018 |
| Cilt / Sayı / Sayfa | 103 / 3 / 431–439 | DOI | 10.1016/j.ajhg.2018.07.010 |
| Makale Linki | https://doi.org/10.1016/j.ajhg.2018.07.010 | ||
| UAK Araştırma Alanları |
Tıbbi Biyoloji
|
||
| Özet |
| ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative ... |
| Anahtar Kelimeler |
| ADP-ribosylation | ADPRHL2 | ARH3 | ataxia | epilepsy | neurodegeneration | neuropathy | oxidative stress | poly-ADP ribose | SUDEP |
Science Direct
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 7 |
| Web of Science | 82 |
| Scopus | 76 |
| Google Scholar | 102 |