Results 1 to 10 of about 18,132 (269)

Progressive Irreversible Proprioceptive Piezo2 Channelopathy-Induced Lost Forced Peripheral Oscillatory Synchronization to the Hippocampal Oscillator May Explain the Onset of Amyotrophic Lateral Sclerosis Pathomechanism

Cells
Amyotrophic lateral sclerosis (ALS) is a mysterious lethal multisystem neurodegenerative disease that gradually leads to the progressive loss of motor neurons.
Balázs Sonkodi
doaj   +2 more sources

Structure of human PIEZO1 and its slow-inactivating channelopathy mutants. [PDF]

Elife
PIEZO channels transmit mechanical force signals to cells, allowing them to make critical decisions during development and in pathophysiological conditions.
Shan Y, Guo X, Zhang M, Chen M, Li Y, Zhang M, Pei D.   +6 more
europepmc   +2 more sources

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Frontiers in Cardiovascular Medicine
BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the ...
Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C. Y. Mak, Martin Chui, Sabrina Tsao, Brian Hon Yin Chung   +8 more
doaj   +2 more sources

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene [PDF]

Frontiers in Physiology, 2015
Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo, Maria Cristina D'Adamo, Constanze eGallenmueller, Constanze eGallenmueller, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Mauro ePessia, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock   +23 more
doaj   +5 more sources

Channelopathy Genes in Pulmonary Arterial Hypertension

Biomolecules, 2022
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. The underlying pathogenetic mechanisms are heterogeneous and current therapies aim to decrease pulmonary vascular ...
Carrie L. Welch, Wendy K. Chung
doaj   +2 more sources

Acquired Piezo2 Channelopathy is One Principal Gateway to Pathophysiology

Frontiers in Bioscience-Landmark
The Piezo2 transmembrane proteins were identified by Ardem Patapoutian and his team. They also found that Piezo2 is the principal mechanosensory ion channel responsible for proprioception.
Balázs Sonkodi
doaj   +2 more sources

α-Synuclein–induced Kv4 channelopathy in mouse vagal motoneurons drives nonmotor parkinsonian symptoms

Science Advances, 2021
Targeting α-synuclein to intact brainstem neurons drives gastrointestinal dysregulation seen in prodromal Parkinson’s disease. No disease-modifying therapy is currently available for Parkinson’s disease (PD), the second most common neurodegenerative ...
Wei-Hua Chiu, Lora Kovacheva, Ruth E Musgrove   +2 more
exaly   +2 more sources

Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases [PDF]

Frontiers in Cardiovascular Medicine, 2016
Sudden cardiac death (SCD) in the young (
Najim eLahrouchi, Elijah R Behr, Connie R. Bezzina   +2 more
doaj   +5 more sources

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Nature Communications, 2019
Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies ...
Marie F Smeland, Conor McClenaghan, Helen I Roessler   +2 more
exaly   +2 more sources

Cancer as a channelopathy: ion channels and pumps in tumor development and progression

Frontiers in Cellular Neuroscience, 2015
Increasing evidence suggests that ion channels and pumps not only regulate membrane potential, ion homeostasis, and electric signaling in excitable cells but also play important roles in cell proliferation, migration, apoptosis and differentiation ...
Alisa Litan, Sigrid A. Langhans
exaly   +2 more sources