Results 31 to 40 of about 1,408,479 (244)

Medical management of hereditary optic neuropathies

Frontiers in Neurology, 2014
Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA).
Chiara eLa Morgia, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. [PDF]

PLoS Genetics, 2008
Mutations in optic atrophy 1 (OPA1), a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA).
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Carrie B Brachmann, Douglas C Wallace, Taosheng Huang   +8 more
doaj   +1 more source

OPA1 increases the risk of normal but not high tension glaucoma

, 2010
Background Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects.
Griffiths, P. G., Birch, M. K., Andrews, R. M., Chinnery, P. F., Hudson, G., Yu-Wai-Man, P., Stewart, J .D.   +6 more
core   +1 more source

Dominant Optic Atrophy

, 2021
Dr.
Andrew G. Lee, MD; Rujman Khan
core  

Oxidative Stress in Optic Neuropathies

Antioxidants, 2021
Increasing evidence indicates that changes in the redox system may contribute to the pathogenesis of multiple optic neuropathies. Optic neuropathies are characterized by the neurodegeneration of the inner-most retinal neurons, the retinal ganglion cells (
Berta Sanz-Morello, Hamid Ahmadi, Rupali Vohra, Sarkis Saruhanian, Kristine Karla Freude, Steffen Hamann, Miriam Kolko   +6 more
doaj   +1 more source

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Frontiers in Genetics, 2015
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial ...
Majida eCharif, Majida eCharif, Agathe eRoubertie, Sara eSalime, Sonia eMamouni, Cyril eGoizet, Christian Paul Hamel, Christian Paul Hamel, Guy eLenaers, Guy eLenaers   +9 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant

Stem Cell Research
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment.
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Elisa Maria Turco, Martina Mazzoni, Barbara Torres, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Alessandro De Luca, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Diana Rosati   +15 more
doaj   +1 more source

Determinants of undergraduate bioscience engagement: Validating attendance barriers and classroom spatial behaviour across institutions

FEBS Open Bio, EarlyView.
Student engagement extends beyond simple attendance. Across 891 bioscience students from three universities, attendance behaviour was associated mainly with structural influences, whereas classroom spatial behaviour reflected affective and sensory factors.
Nigel Page, Rachel J. Hunt, Lauren J. Albee, Daniel Berwick, Alison Snape   +4 more
wiley   +1 more source