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Disease on EC 3.2.1.207 - mannosyl-oligosaccharide alpha-1,3-glucosidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinogenesis
PRKCSH contributes to tumorigenesis by selective boosting of IRE1 signaling pathway.
Publisher Correction: PRKCSH contributes to tumorigenesis by selective boosting of IRE1 signaling pathway.
Carcinoma
Glucosidase II beta subunit (GluII?) plays a role in autophagy and apoptosis regulation in lung carcinoma cells in a p53-dependent manner.
PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.
Cysts
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells.
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
Hepatocystin is Essential for TRPM7 Function During Early Embryogenesis.
Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients.
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
Mutations in GANAB, Encoding the Glucosidase II? Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
PRKCSH Genetic Mutation Was Not Found in Taiwanese Patients with Polycystic Liver Disease.
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Secondary, Somatic Mutations Might Promote Cyst Formation in Patients with Autosomal-Dominant Polycystic Liver Disease.
The zebrafish as a model to study polycystic liver disease.
Diabetes Complications
DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
Diabetes Mellitus, Type 1
DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
Diabetic Nephropathies
DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
Fibrosarcoma
Blood-based biomarkers for detecting mild osteoarthritis in the human knee.
Kidney Diseases
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
Recent advances of mTOR inhibitors use in autosomal dominant polycystic kidney disease: is the road still open?
Liver Diseases
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
Genetics and mechanisms of hepatic cystogenesis.
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients.
Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease.
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Mutations in GANAB, Encoding the Glucosidase II? Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
N-glycosylation determines the abundance of the transient receptor potential channel TRPP2.
Novel GANAB variants associated with polycystic liver disease.
Polycystic liver disease is a disorder of cotranslational protein processing.
PRKCSH Genetic Mutation Was Not Found in Taiwanese Patients with Polycystic Liver Disease.
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Secondary, Somatic Mutations Might Promote Cyst Formation in Patients with Autosomal-Dominant Polycystic Liver Disease.
Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
[Cystic liver diseases. Genetics and cell biology]
Lymphatic Metastasis
Acidic microenvironment plays a key role in human melanoma progression through a sustained exosome mediated transfer of clinically relevant metastatic molecules.
mannosyl-oligosaccharide alpha-1,3-glucosidase deficiency
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells.
Migraine Disorders
A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.
Migraine with Aura
A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.
Neoplasm Metastasis
Acidic microenvironment plays a key role in human melanoma progression through a sustained exosome mediated transfer of clinically relevant metastatic molecules.
Neoplasms
A five-mRNA signature associated with post-translational modifications can better predict recurrence and survival in cervical cancer.
PRKCSH contributes to tumorigenesis by selective boosting of IRE1 signaling pathway.
Polycystic Kidney Diseases
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease.
Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
Mutations in GANAB, Encoding the Glucosidase II? Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Novel GANAB variants associated with polycystic liver disease.
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Recent advances of mTOR inhibitors use in autosomal dominant polycystic kidney disease: is the road still open?
Polycystic Kidney, Autosomal Dominant
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
Mutations in GANAB, Encoding the Glucosidase II? Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Novel GANAB variants associated with polycystic liver disease.
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
Polycystic Kidney Disease without an Apparent Family History.
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Recent advances of mTOR inhibitors use in autosomal dominant polycystic kidney disease: is the road still open?
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.
Situs Inversus
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Spinal Cord Injuries
Down-regulating Circular RNA Prkcsh suppresses the inflammatory response after spinal cord injury.
Virus Diseases
Animal models of biliary injury and altered bile acid metabolism.