Mitochondria and brain disease: a comprehensive review of pathological mechanisms and therapeutic opportunities

VJ Clemente-Suárez, L Redondo-Flórez… - Biomedicines, 2023 - mdpi.com
Mitochondria play a vital role in maintaining cellular energy homeostasis, regulating
apoptosis, and controlling redox signaling. Dysfunction of mitochondria has been implicated …

[HTML][HTML] Navigating the landscape of CMT1B: understanding genetic pathways, disease models, and potential therapeutic approaches

MK McCulloch, F Mehryab, A Rashnonejad - International journal of …, 2024 - mdpi.com
Charcot–Marie–Tooth type 1B (CMT1B) is a peripheral neuropathy caused by mutations in
the gene encoding myelin protein zero (MPZ), a key component of the myelin sheath in …

[HTML][HTML] Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach

JL Centa, MP Stratton, MA Pratt, JRO Oltmanns… - … Therapy-Nucleic Acids, 2023 - cell.com
Genetic mutations that disrupt open reading frames and cause translation termination are
frequent causes of human disease and are difficult to treat due to protein truncation and …

Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined …

JW Ulm, F Barthélémy, SF Nelson - Frontiers in Cell and …, 2023 - frontiersin.org
Duchenne Muscular Dystrophy (DMD)'s complex multi-system pathophysiology, coupled
with the cost-prohibitive logistics of multi-year drug screening and follow-up, has hampered …

Drug repurposing shows promise for Charcot–Marie–Tooth disease

S Lemprière - Nature Reviews Neurology, 2021 - nature.com
ORIgInAL ARtIcLE McAlpine, CS et al. Astro cytic interleukin-3 programs microglia and limits
Alzheimer's disease. Nature https://doi. org/10.1038/s41586-021-03734-6 (2021) RELAtED …

Target Validation and Therapeutic Discovery for CLN3 Batten Disease

MP Stratton - 2024 - search.proquest.com
CLN3 Batten disease is an autosomal recessive neurodegenerative disease caused by
mutations in the CLN3 gene. Children with disease-causing mutations in CLN3 develop …

[PDF][PDF] J. Wes Ulm1*, Florian Barthélémy2, 3 and Stanley F. Nelson1, 2, 4, 5

R Bailey, S Nicolau, MS Alexander, JW Ulm - 2023 - scienceopen.com
Duchenne Muscular Dystrophy (DMD) is an X-linked, progressive degenerative muscle
disease caused by a variety of mutations that disrupt the open reading frame (ORF) of DMD …

Disruptions in Mitochondrial Fission and Fusion Associated with Charcot-Marie-Tooth Disease

T Carivau - 2022 - openprairie.sdstate.edu
Abstract Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral
neuropathies that can result from defects in a wide spectrum of genes. Some of these …

[引用][C] Application for Danish Diabetes and Endocrine Academy PhD Scholarship 2024 Project title: Targeting mitochondrial metabolism in mental disorders