New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN

A Monteil, NC Guérineau, A Gil-Nagel… - Physiological …, 2024 - journals.physiology.org
Cell excitability and its modulation by hormones and neurotransmitters involve the concerted
action of a large repertoire of membrane proteins, especially ion channels. Unique …

Role of sodium leak channel (NALCN) in sensation and pain: an overview

D Zhang, Y Wei - Frontiers in Pharmacology, 2024 - frontiersin.org
The sodium leak channel (NALCN) is widely expressed in the central nervous system and
plays a pivotal role in regulating the resting membrane potential (RMP) by mediating the …

Structural basis of calmodulin modulation of the rod cyclic nucleotide-gated channel

DCA Barret, D Schuster… - Proceedings of the …, 2023 - National Acad Sciences
Calmodulin (CaM) regulates many ion channels to control calcium entry into cells, and
mutations that alter this interaction are linked to fatal diseases. The structural basis of CaM …

[HTML][HTML] A new neurodevelopmental disorder linked to heterozygous variants in UNC79

A Bayat, Z Liu, S Luo, CD Fenger, AF Højte, B Isidor… - Genetics in …, 2023 - Elsevier
Purpose The “NALCN channelosome” is an ion channel complex that consists of multiple
proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of …

Topological point cloud clustering

VP Grande, MT Schaub - arxiv preprint arxiv:2303.16716, 2023 - arxiv.org
We present Topological Point Cloud Clustering (TPCC), a new method to cluster points in an
arbitrary point cloud based on their contribution to global topological features. TPCC …

Unplugging lateral fenestrations of NALCN reveals a hidden drug binding site within the pore region

K Schott, SG Usher, O Serra… - Proceedings of the …, 2024 - National Acad Sciences
The sodium (Na+) leak channel (NALCN) is a member of the four-domain voltage-gated
cation channel family that includes the prototypical voltage-gated sodium and calcium …

Comprehensive analysis of water and sediment from holy water body 'Pokhri'reveals presence of biomolecules that may educe skin, gastroenterological and …

M Bhattacharya, S Majumder, S Nandi, A Ghosh… - Science of The Total …, 2024 - Elsevier
Abstract 'Pokhri mai'refers to the natural pond amidst the hilly forest slopes of the Buxa tiger
reserve (BTR) nearby Jayanti considered to be sacred by the local ethnic groups serving as …

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection

S Tehrani Fateh, S Bagheri, H Sadeghi… - Neurological …, 2023 - Springer
Infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) is
caused by biallelic mutations in the NALCN gene, the major ion channel responsible for the …

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants

J Sartorelli, L Travaglini, G Garone, ML Dentici… - …, 2025 - thieme-connect.com
Background Non-selective sodium leak channel (NALCN) protein encoded by the NALCN
gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic …

SMCHD1 maintains heterochromatin and genome compartments in human myoblasts

Z Huang, W Cui, I Ratnayake, R Tawil, GP Pfeifer - bioRxiv, 2024 - biorxiv.org
Mammalian genomes are subdivided into euchromatic A compartments that contain mostly
active chromatin, and inactive, heterochromatic B compartments. However, it is unknown …