Results 31 to 40 of about 62,463 (295)

Optic atrophy 1 is an A‐kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis [PDF]

The EMBO Journal, 2011
Adrenergic stimulation of adipocytes yields a cAMP signal that activates protein kinase A (PKA). PKA phosphorylates perilipin, a protein localized on the surface of lipid droplets that serves as a gatekeeper to regulate access of lipases converting stored triglycerides to free fatty acids and glycerol in a phosphorylation-dependent manner.
Pidoux, G., Witczak, O., Jarnaess, E., Myrvold, L., Urlaub, H., Stokka, A., Kuntziger, T., Tasken, K.   +7 more
openaire   +5 more sources

Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency [PDF]

Cell Death & Differentiation, 2012
Mitochondrial complex I dysfunction has long been associated with Parkinson's disease (PD). Recent evidence suggests that mitochondrial involvement in PD may extend beyond a sole respiratory deficit and also include perturbations in mitochondrial fusion/fission or ultrastructure.
Ramonet, D, Perier, C., Recasens, A, Dehay, B., Bové, J, Costa, V., Scorrano, L, Vila, M   +7 more
openaire   +4 more sources

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

, 2021
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations.
정성철, 유정현, 구혜수
core   +1 more source

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

BMC Pediatrics, 2020
Background Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity.
Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei   +8 more
doaj   +1 more source

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters

American Journal of Ophthalmology Case Reports, 2022
Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence.
Tryfon Rotsos, Evangelia Papakonstantinou, Chrysanthos Symeonidis, Augoustinos Krassas, Smaragda Kamakari   +4 more
doaj   +1 more source

SUN-572 Estrogen Synergistically Interacts with Optic Atrophy Protein 1 to Promote Thrombosis [PDF]

Journal of the Endocrine Society, 2020
Abstract Thrombosis is a major concern in: premenopausal females on oral contraceptives, menopausal women undergoing hormone replacement therapy, post-menopausal women and transgender individuals receiving estrogen supplementation.
Souvenir, Rhonda A, Renata, Alambert, Campbell, Robert, Hinton, Antentor O, Rondina, Matthew T, Abel, Evan Dale   +5 more
openaire   +1 more source

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

Molecular Genetics and Metabolism Reports, 2014
OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction.
Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing   +8 more
doaj   +1 more source

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

EMBO Molecular Medicine, 2023
Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet   +11 more
doaj   +1 more source

Unusual ocular manifestation in Wolfram syndrome

Indian Journal of Ophthalmology. Case Reports
Wolfram syndrome (WS), also known as diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), is a rare neurodegenerative disease. Bilateral optic atrophy is the most common ocular manifestation of the syndrome.
Sowmya Raveendra Murthy, Mansi Mistry, Disha Agarwal   +2 more
doaj   +1 more source

Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy

Journal of Postgraduate Medicine, 2012
Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the clinical severity. Isolated exon 8 deletion has
D, Maiti, M, Bhattacharya, S, Yadav
openaire   +2 more sources