Autophagy in human diseases

N Mizushima, B Levine - New England journal of medicine, 2020 - Mass Medical Soc
Autophagy in Human Diseases Autophagy is a complex process of intracellular degradation
of senescent or malfunctioning organelles. Dysregulated autophagy is associated with …

[HTML][HTML] Exploring the potential of small molecule-based therapeutic approaches for targeting trinucleotide repeat disorders

AK Verma, E Khan, SR Bhagwat, A Kumar - Molecular Neurobiology, 2020 - Springer
In recent years, neurological disorders have globally become a leading cause of disability
and death. Neurological disorders are very common in both high-and low-income countries …

[HTML][HTML] Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation

F Prosperi, Y Suzumoto, P Marzuillo, V Costanzo… - Scientific Reports, 2020 - nature.com
Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary
concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of …

Urinary metabolic profile of patients with transfusion-dependent β-thalassemia major undergoing deferasirox therapy

G Capolongo, M Zacchia, A Beneduci… - Kidney and Blood …, 2020 - karger.com
Introduction: Renal dysfunction is a frequent complication in patients suffering from β-
thalassemia major (β-TM). The aim of this study was to analyze the renal function and urine …

Regulation of urinary calcium excretion by vasopressin

P Anastasio, F Trepiccione, NG De Santo… - Clinical kidney …, 2020 - academic.oup.com
Background The antidiuretic hormone (ADH) or arginine vasopressin (AVP) regulates the
body's water balance. Recently, modifications in AVP levels have been related to …

Antisense oligonucleotide-mediated therapeutic strategies for neurodegenerative repeat expansion diseases

CS McIntosh - 2020 - researchportal.murdoch.edu.au
Over 40 diseases, primarily affecting the nervous system, are caused by expansion of simple
repetitive sequences found throughout the human genome, termed repeat expansion …