Results 91 to 100 of about 13,615,341 (366)

A working model for cytoplasmic assembly of H/ACA snoRNPs

open access: yesFEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

open access: yes, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo   +44 more
core   +2 more sources

Novel and unscrutinized immune entities of the zebrafish gut

open access: yesFEBS Letters, EarlyView.
Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil   +5 more
wiley   +1 more source

Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors.

open access: yesNature Nanotechnology, 2017
Brain diseases such as autism and Alzheimer's disease (each inflicting >1% of the world population) involve a large network of genes displaying subtle changes in their expression.
Simon Haziza   +22 more
semanticscholar   +1 more source

The role and therapeutic targeting of α-, β- and γ-secretase in Alzheimer's disease [PDF]

open access: yes, 2015
Alzheimer's disease (AD) is the most common form of dementia in the elderly and its prevalence is set to increase rapidly in coming decades. However, there are as yet no available drugs that can halt or even stabilize disease progression. One of the main
Baillie, George S.   +3 more
core   +1 more source

Biophysical analysis of angiotensin II and amyloid‐β cross‐interaction in aggregation and membrane disruption

open access: yesFEBS Letters, EarlyView.
Angiotensin II (AngII), a neuropeptide, interacts with amyloid‐β (Aβ), a key player in Alzheimer's disease. This study reveals that AngII reduces Aβ aggregation and membrane disruption in vitro. Biophysical assays and molecular modeling suggest AngII binds disordered Aβ forms, potentially modulating early amyloidogenic events and contributing to ...
Mohsen Habibnia   +5 more
wiley   +1 more source

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

open access: yes, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph   +7 more
core   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Leveraging unified multi-view hypergraph learning for neurodevelopmental disorders diagnosis

open access: yesFrontiers in Medicine
ObjectiveAccurate diagnosis of neurodevelopmental disorders relies on understanding the complex interactions and high-order relationships between brain regions.
Xiangmin Han, Junchang Li
doaj   +1 more source

Glutamate-mediated blood-brain barrier opening. implications for neuroprotection and drug delivery [PDF]

open access: yes, 2016
The blood-brain barrier is a highly selective anatomical and functional interface allowing a unique environment for neuro-glia networks. Blood-brain barrier dysfunction is common in most brain disorders and is associated with disease course and delayed ...
CECCANTI , MARCO   +18 more
core   +1 more source

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