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Activation of AMPK/OPA1 pathway alleviates traumatic brain damage by regulating mitophagy

open access: yesActa Cirúrgica Brasileira
Purpose: Mitophagy is an important process in brain damage, and the precise impact on a traumatic brain injury (TBI) model remains unclear. AMP-activated protein kinase (AMPK) regulates mitochondrial homeostasis and mitophagy, which are closely related ...
Hao Wei   +3 more
doaj   +1 more source

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants

open access: yesStem Cell Research
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia ...
Michele Bertacchi   +8 more
doaj   +1 more source

Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome

open access: yesJCI Insight
Autosomal dominant optic atrophy plus (ADOA+) is characterized by primary optic nerve atrophy accompanied by a spectrum of degenerative neurological symptoms.
Yan Lin   +9 more
doaj   +1 more source

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

open access: yesNeurol Sci
Errichiello G   +10 more
europepmc   +1 more source

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