Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

Chou, Janice Y.; Mansfield, Brian C.

doi:10.1002/humu.20772

Cited by 132 publications

(150 citation statements)

References 108 publications

(158 reference statements)

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“…However, some ethnic group-specific common mutations account for ~ 90% of known disease alleles. 7,12,16,17 Depending on the specific ethnic group, these common mutations can account for 100% of disease alleles.…”

Section: Overview and General Backgroundmentioning

confidence: 99%

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

373

554

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Section: Overview and General Backgroundmentioning

confidence: 99%

“…Testing for specific common mutations can identify up to 100% of affected individuals, depending on the ethnic group. 7,12,16,17 Some examples of the common mutations seen in GSD Ia are listed in Table 2.…”

Section: Acmg Standards and Guidelinesmentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

373

554

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show abstract

“…Activation of TR/RXR signaling affects various processes including lipid/carbohydrate/steroid metabolism, thermogenesis, and CNS function. 35 In addition, functional Akt and mTORC1 complex promotes lipid anabolism in the liver, 36 and activation of G6PC (glucose-6-phosphatase), has consequences for host carbohydrate metabolism, as it is a key enzyme in glucose homeostasis 37 ( Table 3; Table S2). The genes associated with metabolism, cellular integrity, and immune responses were either commonly or uniquely modulated by LA and LGG Probiotic strain-specific host responses are well documented.…”

Section: In the Later Stage At Pbcd7 La And Lgg Modulated Cell Signamentioning

confidence: 99%

In vivo gut transcriptome responses toLactobacillus rhamnosusGG andLactobacillus acidophilusin neonatal gnotobiotic piglets

et al. 2014

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Probiotics facilitate mucosal repair and maintain gut homeostasis. They are often used in adjunct with rehydration or antibiotic therapy in enteric infections. Lactobacillus spp have been tested in infants for the prevention or treatment of various enteric conditions. however, to aid in rational strain selection for specific treatments, comprehensive studies are required to delineate and compare the specific molecules and pathways involved in a less complex but biologically relevant model (gnotobiotic pigs). here we elucidated Lactobacillus rhamnosus (LGG) and L. acidophilus (LA) specific effects on gut transcriptome responses in a neonatal gnotobiotic (Gn) pig model to simulate responses in newly colonized infants. Whole genome microarray, followed by biological pathway reconstruction, was used to investigate the host-microbe interactions in duodenum and ileum at early (day 1) and later stages (day 7) of colonization. Both LA and LGG modulated common responses related to host metabolism, gut integrity, and immunity, as well as responses unique to each strain in Gn pigs. Our data indicated that probiotic establishment and beneficial effects in the host are guided by: (1) down-regulation or upregulation of immune function-related genes in the early and later stages of colonization, respectively, and (2) alternations in metabolism of small molecules (vitamins and/or minerals) and macromolecules (carbohydrates, proteins, and lipids). Pathways related to immune modulation and carbohydrate metabolism were more affected by LGG, whereas energy and lipid metabolism-related transcriptome responses were prominently modulated by LA. These findings imply that identification of probiotic strain-specific gut responses could facilitate the rational design of probiotic-based interventions to moderate specific enteric conditions.

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“…GSD type 1a is characterized primarily by severe hypoglycemia in the postabsorptive state but also by hyperlipidemia, hyperuricemia, and lactic acidemia (14). In addition, patients are prone to growth retardation, hepatic steatosis and cirrhosis, hepatic adenoma, and renal failure (14).…”

Section: G6pcmentioning

confidence: 99%

Glucose-6-phosphatase Catalytic Subunit Gene Family

Hutton

O’Brien

2009

Journal of Biological Chemistry

160

138

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Glucose-6-phosphatase catalyzes the hydrolysis of glucose 6-phosphate (G6P) to glucose and inorganic phosphate. It is a multicomponent system located in the endoplasmic reticulum that comprises several integral membrane proteins, namely a catalytic subunit (G6PC) and transporters for G6P, inorganic phosphate, and glucose. The G6PC gene family contains three members, designated G6PC, G6PC2, and G6PC3. The tissuespecific expression patterns of these genes differ, and mutations in all three genes have been linked to distinct diseases in humans. This minireview discusses the disease association and transcriptional regulation of the G6PC genes as well as the biological functions of the encoded proteins.

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Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

Cited by 132 publications

References 108 publications

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

In vivo gut transcriptome responses toLactobacillus rhamnosusGG andLactobacillus acidophilusin neonatal gnotobiotic piglets

Glucose-6-phosphatase Catalytic Subunit Gene Family

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