Results 11 to 20 of about 62,463 (295)

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Stem Cell Research, 2016
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM ...
Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls   +4 more
doaj   +5 more sources

Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1 [PDF]

Movement Disorders Clinical Practice, 2020
AbstractBackgroundSpinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.ObjectivesTo describe a retinal phenotype and its functional relevance in SCA‐ATXN1.MethodsWe applied
Oertel, Frederike Cosima, Zeitz, Oliver, Rönnefarth, Maria, Bereuter, Charlotte, Motamedi, Seyedamirhosein, Zimmermann, Hanna G, Kuchling, Joseph, Grosch, Anne Sophie, Doss, Sarah, Browne, Andrew, Paul, Friedemann, Schmitz‐Hübsch, Tanja, Brandt, Alexander U   +12 more
openaire   +6 more sources

Atrophy of the optic chiasm is associated with microvascular diabetic complications in type 1 diabetes [PDF]

Frontiers in Endocrinology, 2023
IntroductionDiabetic neuropathy and diabetic eye disease are well known complications of type 1 diabetes. We hypothesized that chronic hyperglycemia also damages the optic tract, which can be measured using routine magnetic resonance imaging. Our aim was to compare morphological differences in the optic tract between individuals with type 1 diabetes ...
Aleksi Tarkkonen, Tor-Björn Claesson, Marika I. Eriksson, Marika I. Eriksson, Marika I. Eriksson, Carol Forsblom, Carol Forsblom, Carol Forsblom, Lena M. Thorn, Lena M. Thorn, Lena M. Thorn, Lena M. Thorn, Paula Summanen, Paula Summanen, Paula Summanen, Paula Summanen, Per-Henrik Groop, Per-Henrik Groop, Per-Henrik Groop, Per-Henrik Groop, Jukka Putaala, Daniel Gordin, Daniel Gordin, Daniel Gordin, Daniel Gordin, Juha Martola   +25 more
openaire   +4 more sources

Optic Atrophy 1-Dependent Mitochondrial Remodeling Controls Steroidogenesis in Trophoblasts [PDF]

Current Biology, 2012
During human pregnancy, placental trophoblasts differentiate and syncytialize into syncytiotrophoblasts that sustain progesterone production [1]. This process is accompanied by mitochondrial fragmentation and cristae remodeling [2], two facets of mitochondrial apoptosis, whose molecular mechanisms and functional consequences on steroidogenesis are ...
Wasilewski M, Semenzato M, Rafelski SM, Robbins J, Bakardjiev AI, SCORRANO, LUCA   +5 more
core   +6 more sources

The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function. [PDF]

Nat Commun, 2018
AbstractIt is unclear how the mitochondrial fusion protein Optic atrophy 1 (OPA1), which inhibits cristae remodeling, protects from mitochondrial dysfunction. Here we identify the mitochondrial F1Fo-ATP synthase as the effector of OPA1 in mitochondrial protection.
Quintana-Cabrera R, Quirin C, Glytsou C, Corrado M, Urbani A, Pellattiero A, Calvo E, Vázquez J, Enríquez JA, Gerle C, Soriano ME, Bernardi P, Scorrano L.   +12 more
europepmc   +9 more sources

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy

The Journal of Clinical Investigation
Autosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding, Papa S. Ndiaye, Sydney R. Campbell, Michelle Y. Fry, Jincheng Gong, Sophia R. Wienbar, Whitney Gibbs, Philippe Morquette, Luke H. Chao, Michael Tri H. Do, Thomas L. Schwarz   +10 more
doaj   +2 more sources

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review

Brain Sciences, 2023
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui, Nicolas J. Abreu, Shani Golan, Joseph F. Panarelli, Meenakshi Sigireddi, Gopi K. Nayak, Doria M. Gold, Janet C. Rucker, Steven L. Galetta, Scott N. Grossman   +9 more
doaj   +1 more source

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

Frontiers in Neurology, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa, Hiroto Mitamura, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi   +7 more
doaj   +1 more source

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Indian Journal of Ophthalmology, 2022
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy   +2 more
doaj   +1 more source

Demographic, Clinical and Laboratory Characteristics of Ocular Syphilis: 6-Years Case Series Study From an Eye Center in East-China

Frontiers in Immunology, 2022
PurposeTo report the demographic, clinical, and laboratory characteristics of ocular syphilis based on a 6-year case series study from an eye center in East-China.MethodsA total of 131 cases (191 eyes) of ocular syphilis and the annual number of total ...
Chuan-bin Sun, Geng-hao Liu, Rong Wu, Zhe Liu   +3 more
doaj   +1 more source