Results 71 to 80 of about 90,641 (320)
Journal of OphthalmologyPurpose. To describe clinical cases of optic nerve edema in inflammatory and ischemic neuropathies and features of optic disc architecture revealed by optical coherence tomography. Methods. 4 patients were examined.
N. M. Moyseyenko
doaj +1 more source
Genetic testing confirmed osteopetrosis with initial presentation of nystagmus
Taiwan Journal of Ophthalmology, 2023 Osteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis ...
Kai-Yen Chiu +4 more
doaj +1 more source
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation [PDF]
, 2010 The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.
Alexander +28 more
core +3 more sources
FEBS Letters, EarlyView.Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas +3 more
wiley +1 more source
Disease Models & Mechanisms, 2019 Mitochondria continually move, fuse and divide, and these dynamics are essential for the proper function of the organelles. Indeed, the dynamic balance of fusion and fission of mitochondria determines their morphology and allows their immediate ...
Thomas Delerue +8 more
doaj +1 more source
Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation [PDF]
SSRN Electronic Journal, 2019 Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability and energy output, is known to be crucial for neural development: OPA1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders.
Safak Caglayan +14 more
openaire +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
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
core +3 more sources
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
FEBS Open Bio, EarlyView.Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl +13 more
wiley +1 more source
Microscopic Inner Retinal Hyper-reflective Phenotypes in Retinal and Neurologic Disease [PDF]
, 2014 Purpose. We surveyed inner retinal microscopic features in retinal and neurologic disease using a reflectance confocal adaptive optics scanning light ophthalmoscope (AOSLO). Methods. Inner retinal images from 101 subjects affected by one of 38 retinal or
Carroll, Joseph +9 more
core +2 more sources