Results 81 to 90 of about 2,688,953 (298)

“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death and Disease, 2021
The regulation of intracellular calcium (Ca2+) homeostasis is fundamental to maintain normal functions in many cell types. The ryanodine receptor (RyR), the largest intracellular calcium release channel located on the sarco/endoplasmic reticulum (SR/ER),
Yvonne Sleiman, Alain Lacampagne, Albano C. Meli   +2 more
doaj   +1 more source

The 4q25 variant rs13143308T links risk of atrial fibrillation to defective calcium homoeostasis [PDF]

, 2019
Aims: Single nucleotide polymorphisms on chromosome 4q25 have been associated with risk of atrial fibrillation (AF) but the exiguous knowledge of the mechanistic links between these risk variants and underlying electrophysiological alterations hampers ...
Benítez Iglesias, Raúl, Gandía, Jorge, Herraiz Martínez, Adela, Jiménez Sábado, Verónica, Llach Martínez, Anna, Lozano Velasco, Estefanía, Serra Pascual, Selma A., Tarifa Lora, Carmen, Vallmitjana Lees, Alexander, Vázquez Ruiz de Castroviejo, Eduardo   +9 more
core   +2 more sources

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source

AIP limits neurotransmitter release by inhibiting calcium bursts from the ryanodine receptor

Nature Communications, 2017
In this work the authors show that AIP (aryl hydrocarbon receptor-interacting protein), a gene frequently mutated in association with pituitary tumors, regulates neurotransmitter release by inhibiting calcium release from ryanodine receptors.
Bojun Chen, Ping Liu, Edward J. Hujber, Yan Li, Erik M. Jorgensen, Zhao-Wen Wang   +5 more
doaj   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Accelerating virtual patient generation with a Bayesian optimization and machine learning surrogate model

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 486-494, March 2025.
Abstract The pharmaceutical industry has increasingly adopted model‐informed drug discovery and development (MID3) to enhance productivity in drug discovery and development. Quantitative systems pharmacology (QSP), which integrates drug action mechanisms and disease complexities to predict clinical endpoints and biomarkers is central to MID3.
Hiroaki Iwata, Ryuta Saito
wiley   +1 more source

A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke

Nature Communications, 2021
Mutations in ryanodine receptor 1 (RyR1), a Ca2+ release channel in skeletal muscle, cause malignant hyperthermia (MH) and are involved in heat stroke. Here, the authors show that an oxolinic acid-derivative RyR1 inhibitor effectively prevents and treats
Toshiko Yamazawa, Takuya Kobayashi, Nagomi Kurebayashi, Masato Konishi, Satoru Noguchi, Takayoshi Inoue, Yukiko U. Inoue, Ichizo Nishino, Shuichi Mori, Hiroto Iinuma, Noriaki Manaka, Hiroyuki Kagechika, Arkady Uryash, Jose Adams, Jose R. Lopez, Xiaochen Liu, Christine Diggle, Paul D. Allen, Sho Kakizawa, Keigo Ikeda, Bangzhong Lin, Yui Ikemi, Kazuto Nunomura, Shinsaku Nakagawa, Takashi Sakurai, Takashi Murayama   +25 more
doaj   +1 more source

Altered excitation-contraction coupling in human chronic atrial fibrillation [PDF]

, 2012
This review focuses on the (mal)adaptive processes in atrial excitation-contraction coupling occurring in patients with chronic atrial fibrillation. Cellular remodeling includes shortening of the atrial action potential duration and effective refractory ...
Grandi, E., Pandit, S.V., Workman, A.J.
core   +1 more source

Testicular SIRT1 Loss Reveals an Aging‐Like Proteomic Landscape and Precipitates Reproductive Deterioration

Andrology, EarlyView.
ABSTRACT Background Advanced paternal age is associated with reduced male fertility and testicular dysfunction. Among the molecular regulators involved in aging, SIRT1, a NAD+‐dependent deacetylase, plays a pivotal role in maintaining oxidative balance and cellular homeostasis.
María Iniesta‐Cuerda, Jiřina Havránková, Hedvika Řimnáčová, Jiří Moravec, František Liška, Martin Knytl, Milena Králíčková, Jan Nevoral   +7 more
wiley   +1 more source

Intracellular Ca 2+ sensing: role in calcium homeostasis and signaling [PDF]

, 2017
Ca2+ is a ubiquitous intracellular messenger that controls diverse cellular functions but can become toxic and cause cell death. Selective control of specific targets depends on spatiotemporal patterning of the calcium signal and decoding it by multiple,
Bagur, Rafaela, Hajnóczky, György
core   +1 more source