Results 21 to 30 of about 90,641 (320)

[Research progress of optic atrophy 1-mediated mitochondrial dynamics in skeletal system diseases]. [PDF]

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi, 2023
To review the research progress of mitochondrial dynamics mediated by optic atrophy 1 (OPA1) in skeletal system diseases.The literatures about OPA1-mediated mitochondrial dynamics in recent years were reviewed, and the bioactive ingredients and drugs for the treatment of skeletal system diseases were summarized, which provided a new idea for the ...
Sun K, Wu Y, Zeng Y, Li M, Wu L, Shen B.
europepmc   +3 more sources

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
Dipshikha Maiti, Maitreyee Bhattacharya, Shobha Yadav   +2 more
openalex   +3 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

Mitochondrial Optic Atrophy (OPA) 1 Processing Is Altered in Response to Neonatal Hypoxic-Ischemic Brain Injury [PDF]

International Journal of Molecular Sciences, 2015
Perturbation of mitochondrial function and subsequent induction of cell death pathways are key hallmarks in neonatal hypoxic-ischemic (HI) injury, both in animal models and in term infants. Mitoprotective therapies therefore offer a new avenue for intervention for the babies who suffer life-long disabilities as a result of birth asphyxia.
Ana A. Baburamani, Chloe Hurling, Helen B. Stolp, Kristina S. Sobotka, Pierre Gressèns, Henrik Hagberg, Claire Thornton   +6 more
openalex   +8 more sources

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

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
openaire   +3 more sources

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

Frontiers in Neuroscience, 2020
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding ...
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Paul Kenna, Gwyneth Jane Farrar   +12 more
doaj   +1 more source

Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control [PDF]

Cell Reports, 2016
The mitochondrial contact site and cristae organizing system (MICOS) and Optic atrophy 1 (OPA1) control cristae shape, thus affecting mitochondrial function and apoptosis. Whether and how they physically and functionally interact is unclear. Here, we provide evidence that OPA1 is epistatic to MICOS in the regulation of cristae shape. Proteomic analysis
Christina Glytsou, Enrique Calvo, Sara Cogliati, Arpit Mehrotra, Irene Anastasia, Giovanni Rigoni, Andrea Raimondi, Norihito Shintani, Marta Loureiro, Jesús Vázquez, Luca Pellegrini, José Antonio Enrı́quez, Luca Scorrano, María Eugenia Soriano   +13 more
openalex   +4 more sources