Results 121 to 130 of about 119,811 (261)

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard   +3 more
wiley   +1 more source

Histone acetylation promotes FKBP5 to increase reparative dentin formation in pulp repair. [PDF]

open access: yesStem Cells Transl Med
Duan S   +7 more
europepmc   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang   +7 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

open access: yesEpileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini   +6 more
wiley   +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

αKG-mediated carnitine synthesis drives DNA repair via histone acetylation. [PDF]

open access: yesNature
Uboveja A   +38 more
europepmc   +1 more source

Rewiring nutrition: Chemical insights into the physiological and microbiological roles of food's microconstituents

open access: yesFood Biomacromolecules, EarlyView.
Bidirectional interactions between food‐derived sensory compounds, gut sensing and microbiota, host physiological feedback, and metabolite production within the food matrix collectively shape sensory perception, microbial dynamics, and metabolic health.
Mohammad Nazrul Islam Bhuiyan
wiley   +1 more source

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