Regulation of polycystin expression, maturation and trafficking

J Hu, PC Harris - Cellular signalling, 2020 - Elsevier
The major autosomal dominant polycystic kidney disease (ADPKD) genes, PKD1 and PKD2,
are wildly expressed at the organ and tissue level. PKD1 encodes polycystin 1 (PC1), a …

Molecular genetics of renal ciliopathies

M Barroso-Gil, E Olinger, JA Sayer - Biochemical Society …, 2021 - portlandpress.com
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of
phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to …

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

M Sicking, M Živná, P Bhadra… - Life Science …, 2022 - life-science-alliance.org
The human Sec61 complex is a widely distributed and abundant molecular machine. It
resides in the membrane of the endoplasmic reticulum to channel two types of cargo: protein …

Evaluation of genetic kidney diseases in living donor kidney transplantation: towards precision genomic medicine in donor risk assessment

Y Caliskan, B Lee, AM Whelan, F Abualrub… - Current transplantation …, 2022 - Springer
Abstract Purpose of Review To provide a comprehensive update on the role of genetic
testing for the evaluation of kidney transplant recipient and living donor candidates. Recent …

Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease

A Shao, SC Chan, P Igarashi - Cellular signalling, 2020 - Elsevier
Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential
for normal kidney development. Mutations of HNF1B in humans produce cystic kidney …

Improving molecular therapy in the kidney

JD Rubin, MA Barry - Molecular diagnosis & therapy, 2020 - Springer
Mutations in approximately 80 genes have been implicated as the cause of various genetic
kidney diseases. However, gene delivery to kidney cells from the blood is inefficient …

The urinary excretion of uromodulin is regulated by the potassium channel ROMK

G Schiano, B Glaudemans, E Olinger, N Goelz… - Scientific reports, 2019 - nature.com
Uromodulin, the most abundant protein in normal urine, is produced by cells lining the thick
ascending limb (TAL) of the loop of Henle. Uromodulin regulates the activity of the …

Autosomal dominant tubulointerstitial kidney disease: A review

M Živná, KO Kidd, V Barešová… - American Journal of …, 2022 - Wiley Online Library
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …

Quantitative mass spectrometry characterizes client spectra of components for targeting of membrane proteins to and their insertion into the membrane of the human …

M Jung, R Zimmermann - International Journal of Molecular Sciences, 2023 - mdpi.com
To elucidate the redundancy in the components for the targeting of membrane proteins to
the endoplasmic reticulum (ER) and/or their insertion into the ER membrane under …

A bioinspired carbon monoxide delivery system prevents acute kidney injury and the progression to chronic kidney disease

T Nagasaki, H Maeda, K Taguchi, H Yanagisawa… - Redox Biology, 2022 - Elsevier
Abstract Renal ischemia-reperfusion (IR)-induced tissue hypoxia causes impaired energy
metabolism and oxidative stress. These conditions lead to tubular cell damage, which is a …