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 …
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
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 …
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 …
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 …
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 …
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 …
repetitive sequences found throughout the human genome, termed repeat expansion …