Janice Y. Chou
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View article: Liver‐Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia
Liver‐Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia Open
Nephropathy is a complication of glycogen storage disease type Ia (GSD‐Ia), a metabolic disorder caused by pathogenic variants in glucose‐6‐phosphatase‐α (G6Pase‐α or G6PC1). While maintaining blood glucose homeostasis can delay the progre…
View article: Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia Open
Glycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the p…
View article: Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia Open
Glycogen storage disease type-Ia (GSD-Ia) patients, deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC), manifest impaired glucose homeostasis with hallmark fasting hypoglycemia. We generated a humanized knock-in mouse model, huR83C, t…
View article: <scp>CRISPR/Cas9</scp>‐based double‐strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type‐Ia
<span>CRISPR/Cas9</span>‐based double‐strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type‐Ia Open
Glycogen storage disease type‐Ia (GSD‐Ia), characterized by impaired blood glucose homeostasis, is caused by a deficiency in glucose‐6‐phosphatase‐α (G6Pase‐α or G6PC). Using the G6pc ‐R83C mouse model of GSD‐Ia, we explored a CRISPR/Cas9‐…
View article: Gene therapy and genome editing for type I glycogen storage diseases
Gene therapy and genome editing for type I glycogen storage diseases Open
Type I glycogen storage diseases (GSD-I) consist of two major autosomal recessive disorders, GSD-Ia, caused by a reduction of glucose-6-phosphatase-α (G6Pase-α or G6PC) activity and GSD-Ib, caused by a reduction in the glucose-6-phosphate …
View article: Cisplatin attenuates taste cell homeostasis and induces inflammatory activation in the circumvallate papilla
Cisplatin attenuates taste cell homeostasis and induces inflammatory activation in the circumvallate papilla Open
Rationale: Gustation is important to several biological functions in mammals. However, chemotherapy drugs often harm taste perception in cancer patients, while the underlying mechanism is still unclear for most drugs and there is no effect…
View article: Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib
Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib Open
Type Ib glycogen storage disease (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT) that translocates G6P from the cytoplasm into the endoplasmic reticulum lumen, where the intraluminal G6P is hydrolyzed…
View article: The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia
The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia Open
Glucose-6-phosphatase-α (G6Pase-α or G6PC) deficiency in glycogen storage disease type-Ia (GSD-Ia) leads to impaired hepatic autophagy, a recycling process important for cellular metabolism and homeostasis. Autophagy can be regulated by se…
View article: Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor‐developing stage
Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor‐developing stage Open
Hepatocellular adenoma/carcinoma (HCA/HCC) is a long‐term complication of glycogen storage disease type‐Ia ( GSD‐Ia), which is caused by a deficiency in glucose‐6‐phosphatase‐α (G6Pase‐α or G6PC), a key enzyme in gluconeogenesis. Currently…
View article: An evolutionary approach to optimizing glucose‐6‐phosphatase‐α enzymatic activity for gene therapy of glycogen storage disease type Ia
An evolutionary approach to optimizing glucose‐6‐phosphatase‐α enzymatic activity for gene therapy of glycogen storage disease type Ia Open
Glycogen storage disease type‐Ia (GSD‐Ia), caused by a deficiency in glucose‐6‐phosphatase‐α (G6Pase‐α or G6PC), is characterized by impaired glucose homeostasis with a hallmark hypoglycemia, following a short fast. We have shown that G6pc…
View article: Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia Open
Glycogen storage disease type Ia (GSD‐Ia) deficient in glucose‐6‐phosphatase‐α (G6Pase‐α) is a metabolic disorder characterized by impaired glucose homeostasis and a long‐term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mit…
View article: Liver-directed gene therapy for murine glycogen storage disease type Ib
Liver-directed gene therapy for murine glycogen storage disease type Ib Open
Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporter (G6PT), is characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenoma (HCA). We examined the …
View article: Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia
Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia Open
A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumula…
View article: Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy Open
Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis and long-term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non-tumor-bearing (NT), recombinant adeno-associated…
View article: 165. Liver-Directed Gene Therapy for Murine Glycogen Storage Disease Type IB
165. Liver-Directed Gene Therapy for Murine Glycogen Storage Disease Type IB Open
Glycogen storage disease type Ib (GSD-Ib) deficient in the glucose-6-phosphate transporter (G6PT or SLC37A4) is characterized impaired glucose homeostasis, myeloid dysfunction, and long-term complication of hepatocellular adenoma (HCA). We…
View article: 350. Kidney-Directed Gene Therapy for Murine Glycogen Storage Disease Type IA
350. Kidney-Directed Gene Therapy for Murine Glycogen Storage Disease Type IA Open
Glycogen storage disease type Ia (GSD-Ia, MIM232200) is an autosomal recessive disorder caused by deficiencies in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver and kidney. GSD-Ia patients manifest impa…
View article: Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity
Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity Open
Glycogen storage disease type-Ia (GSD-Ia) is caused by a lack of glucose-6-phosphatase-α (G6Pase-α or G6PC) activity. We have shown that gene therapy mediated by a recombinant adeno-associated virus (rAAV) vector expressing human G6Pase-α …
View article: 376. Correction of Metabolic Abnormalities in Murine Glycogen Storage Disease Type Ib by Gene Therapy
376. Correction of Metabolic Abnormalities in Murine Glycogen Storage Disease Type Ib by Gene Therapy Open
Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by deficiencies in a glucose-6-phosphate (G6P) transporter (G6PT) that transloacates G6P from the cytoplasm into the lumen of the endoplasmic reticulum whe…