Article

Molecular determinants of SEC61A1 mutant R236C in two patient-derived cellular platforms

2023-12-07

Abstract excerpt

<h4>Background & objectives</h4> SEC61A1 encodes a central protein of the mammalian translocon machinery residing in the ER. Mutations of SEC61A1 are implicated to result in various severe diseases. Recently, mutation R236C was identified in patients having autosomal dominant polycystic liver disease (ADPLD), which originates from defects of cholangiocytes in the liver. The molecular phenotype of R236C was asses...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 81e7b220-710d-52fa-b08b-c03d4ca6fcc6
DOI: 10.1101/2023.12.05.570221

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular determinants of SEC61A1 mutant R236C in two patient-derived cellular platformsDOI 10.1101/2023.12.05.570221Read

Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.Semantic proximity Read

Human biliary atresia extrahepatic cholangiocyte organoids express increased ER and oxidative stress, altered drug metabolism and cell polarity changesSemantic proximity Read

Polycystic liver diseases: congenital disorders of cholangiocyte signaling.Semantic proximity Read

Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeuticsSemantic proximity Read

Genetic risk of cholangiocarcinoma is linked to the autophagy gene <i>ATG7</i>Semantic proximity Read

Patient-derived organoids reveal ductal dysfunction and CFTR-modulator responses in chronic pancreatitis.Semantic proximity Read

Isolated polycystic liver disease genes define effectors of polycystin-1 function.Semantic proximity Read

De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.Semantic proximity Read

Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.Semantic proximity Read

Cholangiociliopathies: genetics, molecular mechanisms and potential therapiesSemantic proximity Read

SEC31A mutation affects ER homeostasis, causing a neurological syndromeSemantic proximity Read

Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.Semantic proximity Read