Results 41 to 50 of about 2,451 (126)
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant
Tremor and Other Hyperkinetic Movements, 2019 Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.
Carlos Zúñiga-Ramírez +6 more
doaj +1 more source
Methamphetamine and inflammatory cytokines increase neuronal Na+/K+-ATPase isoform 3: relevance for HIV associated neurocognitive disorders. [PDF]
PLoS ONE, 2012 Methamphetamine (METH) abuse in conjunction with human immunodeficiency virus (HIV) exacerbates neuropathogenesis and accelerates neurocognitive impairments in the central nervous system (CNS), collectively termed HIV Associated Neurocognitive Disorders (
Gurudutt Pendyala +2 more
doaj +1 more source
Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy
Children, 2023 Heterozygous variants in the ATP1A3 gene are linked to well-known neurological phenotypes. There has been growing evidence for a separate phenotype associated with variants in residue Arg756—fever-induced paroxysmal weakness and encephalopathy (FIPWE) or
Fumikazu Sano +6 more
doaj +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Advanced NanoBiomed Research, EarlyView.This study systematically compares small extracellular vesicles (sEVs) derived from four neural cell lines, revealing how cellular origin shapes vesicle biophysical properties and proteomic cargo. Distinct, lineage‐specific signatures linked to neuronal, astrocytic, and microglial functions are identified, highlighting the importance of cell source ...
Muhammad Waqas Salim +4 more
wiley +1 more source
Mass Spectrometry‐Based Extracellular Vesicle Proteomics for Biomarker Discovery
Mass Spectrometry Reviews, EarlyView.ABSTRACT Extracellular vesicle (EV) proteomics has emerged as a powerful platform for decoding intercellular communication and advancing biomarker discovery across human diseases. EVs carry proteins that reflect their cells of origin, offering a minimally invasive window into physiological and pathological processes.
Ya‐Juan Liu, Juan Peng, Chao Kang
wiley +1 more source
The involvement of spinal lncRNA RT1-CE10 in chronic functional visceral pain
Molecular PainIrritable bowel syndrome (IBS) is characterized by chronic visceral pain, but its molecular mechanisms remain controversial, hindering effective treatment.
Ying Tang +10 more
doaj +1 more source