CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-term complications of renal disease and hepatocellul...

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Veröffentlicht in:	Gene 2019-06, Vol.703, p.17-25
Hauptverfasser:	Skakic, Anita, Andjelkovic, Marina, Tosic, Natasa, Klaassen, Kristel, Djordjevic, Maja, Pavlovic, Sonja, Stojiljkovic, Maja
Format:	Artikel
Sprache:	eng
Schlagworte:	CRISPR/Cas9 gene knockin ER stress ER-mediated apoptosis GSD Ib in vitro model system SLC37A4 gene Unfolded protein response
Online-Zugang:	Volltext
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