Yazar "Önal, Gizem" için listeleme
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Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p. R450C) in the RHOT1 gene encoding Miro1
Chemla, Axel; Arena, Giuseppe; Önal, Gizem; Walter, Jonas; Berenguer-Escuder, Clara; Grossmann, Dajana; Grunewald, Anne; Schwamborn, Jens C.; Kruger, Rejko (Elsevier, 2023)Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem ... -
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of autosomal recessive congenital ichthyosis patients
Önal, Gizem; Kutlu, Özlem; Özer, Ebru; Gözüaçık, Devrim; Karaduman, Ayşen; Emre, Serap Dökmeci (Elsevier Ireland LTD, 2019)Background: Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays ... -
Molecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene
Önal, Gizem; Gümüş, Ersin; Demir, Hülya; Yüce, Aysel; Dökmeci, Serap Emre (Elsevier, 2020)Gaucher's disease (GD) is the most prevalent lysosomal storage disorder caused by the deficiency of beta-gluco-sylceramidase enzyme (EC 3.2.1.45) due to mutations in the GBA gene. To date, more than 400 GBA mutations have ...
