Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21–22
A Swiss frontotemporal dementia (FTD) kindred with extrapyramidal-like features and without motor neuron disease shows a brain pathology with ubiquitin-positive but tau-negative inclusions.
Armand Savioz +9 more
doaj +1 more source
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. [PDF]
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
A Butler +79 more
core +3 more sources
Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian +5 more
wiley +1 more source
Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter [PDF]
AimsUnderstanding the causes of axonal pathology remains a key goal in the pursuit of new therapies to target disease progression in MS. Anterograde axonal transport of many proteins vital for axonal viability is mediated by the motor protein KIF5A ...
Hares, Kelly M +5 more
core +2 more sources
Neurofilament protein abnormalities in PC12 cells: comparison with neurofilament proteins of normal cultured rat sympathetic neurons [PDF]
The studies described here characterize abnormalities in the expression of neurofilament (NF) proteins in a clonal rat pheochromocytoma (PC12) cell line as compared with normal NF proteins in cultured rat sympathetic neurons (RSNs). Cytoskeletal extracts from PC12 cells grown in the presence (PC12+ cells) or absence (PC12- cells) of nerve growth factor
openaire +2 more sources
Using machine‐learning analyses in two independent multiple sclerosis cohorts, spinal cord atrophy and cortical degeneration emerged as key predictors of disability and progression independent of relapses. Deep gray matter damage further improved prediction, while serum biomarkers of brain damage provided complementary information, highlighting the ...
Alessandro Cagol +17 more
wiley +1 more source
Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J. +2 more
core +3 more sources
A macrophage–platelet conjugation system (M‐P‐NPs@PPARγ) targets injure tissue to co‐deliver platelet mitochondria and PPARγ‐encoding NPs. This strategy boosts the macrophage energy supply and restores lipid homeostasis, leading to synergistically enhanced efferocytosis and tissue repair Abstract Mitochondrial dysfunction occurs in macrophages with ...
Haoli Wang +18 more
wiley +1 more source
Clinical-pathological study on β-APP, IL-1β, GFAP, NFL, Spectrin II, 8OHdG, TUNEL, miR-21, miR-16, miR-92 expressions to verify DAI-diagnosis, grade and prognosis [PDF]
Traumatic brain injury (TBI) is one of the most important death and disability cause, involving substantial costs, also in economic terms, when considering the young age of the involved subject. Aim of this paper is to report a series of patients treated
A Frati +65 more
core +3 more sources
This study presents a novel “in vivo–in vitro” therapeutic strategy for spinal cord injury by leveraging magnetically responsive piezoelectric nanomaterials. These nanomaterials enable targeted delivery of localized electrical stimulation at the injury site through noninvasive external magnetic actuation, thereby promoting axonal regeneration and ...
Zhihang Xiao +9 more
wiley +1 more source

