Results 41 to 50 of about 14,555 (206)

Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders

open access: yesBiomedicines, 2023
Many potential immune therapeutic targets are similarly affected in adult-onset neurodegenerative diseases, such as Alzheimer’s (AD) disease, Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), as well as in ...
Fabiola De Marchi   +14 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

open access: yesiMetaOmics, EarlyView.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang   +16 more
wiley   +1 more source

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

open access: yes, 2014
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
簡穎秀   +1 more
core   +1 more source

Impact of Alcohol Abuse on Susceptibility to Rare Neurodegenerative Diseases

open access: yesFrontiers in Molecular Biosciences, 2021
Despite the prevalence and well-recognized adverse effects of prenatal alcohol exposure and alcohol use disorder in the causation of numerous diseases, their potential roles in the etiology of neurodegenerative diseases remain poorly characterized.
Iskra Araujo   +5 more
doaj   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

open access: yesMovement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen   +27 more
wiley   +1 more source

Claves para afrontar el reto diagnóstico de las heredoataxias recesivas

open access: yesNeurología, 2019
Resumen: Introducción: Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en muchos casos también se afectan otras partes del sistema nervioso.
M. Arias
doaj   +1 more source

The Role of Patients' Treatment Expectations in Ventricular Assist Device Support: Results From a Convergent Mixed Methods Study

open access: yesArtificial Organs, EarlyView.
This mixed methods study aimed to: (i) identify treatment expectations held by individuals with a ventricular assist device (VAD), (ii) assess the extent to which these expectations have been met, and (iii) examine how treatment expectations relate to VAD‐specific health‐related quality of life (HRQoL) ABSTRACT Objectives Treatment expectations ...
Simon Felix Zerth   +10 more
wiley   +1 more source

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

open access: yesData in Brief, 2016
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry ...
Susan Elliott   +11 more
doaj   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

open access: yesInsect Molecular Biology, EarlyView.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez   +1 more
wiley   +1 more source

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