Folding and misfolding of human membrane proteins in health and disease: from single molecules to cellular proteostasis

JT Marinko, H Huang, WD Penn, JA Capra… - Chemical …, 2019 - ACS Publications
Advances over the past 25 years have revealed much about how the structural properties of
membranes and associated proteins are linked to the thermodynamics and kinetics of …

[HTML][HTML] Channelopathies

JB Kim - Korean journal of pediatrics, 2014 - ncbi.nlm.nih.gov
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of
ion channels located in the membranes of all cells and many cellular organelles. These …

Self-amplifying RNA approach for protein replacement therapy

D Papukashvili, N Rcheulishvili, C Liu, Y Ji… - International journal of …, 2022 - mdpi.com
Messenger RNA (mRNA) technology has already been successfully tested preclinically and
there are ongoing clinical trials for protein replacement purposes; however, more effort has …

Aquaporins in the kidney: physiology and pathophysiology

W Su, R Cao, X Zhang, Y Guan - American Journal of …, 2020 - journals.physiology.org
The kidney is the central organ involved in maintaining water and sodium balance. In human
kidneys, nine aquaporins (AQPs), including AQP1–8 and AQP11, have been found and are …

Copeptin (CTproAVP), a new tool for understanding the role of vasopressin in pathophysiology

D Bolignano, A Cabassi, E Fiaccadori… - Clinical Chemistry and …, 2014 - degruyter.com
Arginine vasopressin (AVP) plays a key role in many physiologic and pathologic processes.
The most important stimulus for AVP release is a change in plasma osmolality. AVP is also …

[HTML][HTML] Diabetes insipidus: pathogenesis, diagnosis, and clinical management

CM Mutter, T Smith, O Menze, M Zakharia, H Nguyen - Cureus, 2021 - ncbi.nlm.nih.gov
Diabetes insipidus (DI) is an endocrine condition involving the posterior pituitary peptide
hormone, antidiuretic hormone (ADH). ADH exerts its effects on the distal convoluted tubule …

Chaperoning G protein-coupled receptors: from cell biology to therapeutics

YX Tao, PM Conn - Endocrine reviews, 2014 - academic.oup.com
G protein-coupled receptors (GPCRs) are membrane proteins that traverse the plasma
membrane seven times (hence, are also called 7TM receptors). The polytopic structure of …

Structural insights into aquaporin selectivity and regulation

S Kreida, S Törnroth-Horsefield - Current opinion in structural biology, 2015 - Elsevier
Highlights•Structural studies of aquaporins give new insights into selectivity and regulation.•
Subångström resolution structure yeast Aqy1 revises the proton exclusion mechanism.•A …

X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking

A Frick, UK Eriksson, F de Mattia… - Proceedings of the …, 2014 - National Acad Sciences
Human aquaporin 2 (AQP2) is a water channel found in the kidney collecting duct, where it
plays a key role in concentrating urine. Water reabsorption is regulated by AQP2 trafficking …

Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. An update

S Milano, M Carmosino, A Gerbino, M Svelto… - International journal of …, 2017 - mdpi.com
Under physiological conditions, excessive loss of water through the urine is prevented by
the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior …