Associated Papers
Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.
Karpman D et al.
Clinical Kidney Journal, 2024
Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.
Weiand M et al.
Scientific Reports, 2024
A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.
Schlevogt B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Sicking M et al.
Life Science Alliance, 2022
Sec61 complex/translocon: The role of an atypical ER Ca2+-leak channel in health and disease.
Parys JB et al.
Frontiers in Physiology, 2022
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.
Espino-Hernández M et al.
Journal of Paediatrics and Child Health, 2021
Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex.
Sicking M et al.
Cells, 2021
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Van Nieuwenhove E et al.
The Journal of Allergy and Clinical Immunology, 2020
Autosomal dominant tubulointerstitial kidney disease.
Devuyst O et al.
Nature Reviews. Disease Primers, 2019
Defects in plasma cell differentiation are associated with primary immunodeficiency in human subjects.
Pan-Hammarström Q et al.
The Journal of Allergy and Clinical Immunology, 2018
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA et al.
American Journal of Human Genetics, 2016
Let's talk about Secs: Sec61, Sec62 and Sec63 in signal transduction, oncology and personalized medicine.
Linxweiler M et al.
Signal Transduction and Targeted Therapy, 0
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