Mechanisms of mitochondrial reorganization

T Maruyama, Y Hama, NN Noda - The Journal of Biochemistry, 2024 - academic.oup.com
The cytoplasm of eukaryotes is dynamically zoned by membrane-bound and membraneless
organelles. Cytoplasmic zoning allows various biochemical reactions to take place at the …

[HTML][HTML] Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?

F Pilotto, A Del Bondio, H Puccio - Cells, 2024 - mdpi.com
Cerebellar ataxias are a wide heterogeneous group of movement disorders. Within this
broad umbrella of diseases, there are both genetics and sporadic forms. The clinical …

[HTML][HTML] Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies

KA Pohl, X Zhang, AH Pham, JW Chan… - Frontiers in …, 2023 - frontiersin.org
Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal
ganglion cells (RGCs), the projection neurons that relay visual information from the retina to …

[HTML][HTML] Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS …

F Barretta, F Uomo, F Caldora, R Mocerino, D Adamo… - Genes, 2023 - mdpi.com
Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic
screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires …

[HTML][HTML] Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

S Jagadish, ARUL Calhoun, ST Ganganna - Epilepsy & behavior reports, 2024 - Elsevier
Behr syndrome is associated with compound heterozygous dysfunction in OPA1 gene and
typically presents with a constellation of visual impairment due to early onset optic atrophy …

Integrating Sensory Modalities and Technologies in Artistic Contexts

J Hutson, P Hutson, M Harper-Nichols - … and Neuroaesthetics: Neuroarts …, 2024 - Springer
This chapter delves into the innovative fusion of sensory technologies and art, illustrating
how this synergy is expanding artistic expression and experience. It begins by examining …