Results 111 to 120 of about 62,463 (295)

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Investigative Opthalmology & Visual Science, 2018
Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing.
Bocca, Cinzia, Nzoughet, Judith, Leruez, Stéphanie, Amati-Bonneau, Patrizia, Ferré, Marc, Kane, Mariame-Selma, Veyrat-Durebex, Charlotte, Chao de La Barca, Juan Manuel, Chevrollier, Arnaud, Homedan, Chadi, Verny, Christophe, Milea, Dan, Procaccio, Vincent, Simard, Gilles, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal   +16 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy

, 2017
The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes.
Lyu, He, Wei Zhang, Wang, Zhao-Xia, Yun Yuan, Yuan, Yun, Zhang, Wei, Wang, Wei-Wei, Xiao-Jing Fang, He Lyu, Zhao-Xia Wang, Fang, Xiao-Jing, Wei-Wei Wang   +11 more
core   +1 more source

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot

American Journal of Ophthalmology Case Reports
Purpose: To describe the clinical progression and ophthalmic findings in a Japanese boy with Tay-Sachs disease at ages 5 and 8 months. Results: The patient was born at 38 weeks of gestation and developed normally until motor skill delays were identified ...
Noriko Tsutsumi, Sonoko Sakata, Riyu Ikari, Nobuyuki Ebihara   +3 more
doaj   +1 more source

Optic atrophy 1 (OPA1) is over-expressed in brain metastatic breast cancer.

, 2020
Preservation of mitochondrial integrity is essential for prevention of cell death (1, 2). Brain metastases are a clinical problem in patients with breast cancer (3-5). We mined published microarray data (6, 7) to discover genes associated with brain metastasis in patients with brain metastatic breast cancer.
openaire   +2 more sources

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Walsh & Hoyt: Dominant Optic Atrophy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no. 165500, gene symbol OPA1), is believed to be the most commonof the hereditary optic neuropathies. The estimated disease prevalence is 1:50,000, or as high as 1:10,000 in Denmark. Clinical features.
Nancy J. Newman, MD
core  

Oxidization of optic atrophy 1 cysteines occurs during heart ischemia-reperfusion and amplifies cell death by oxidative stress. [PDF]

Redox Biol, 2023
Semenzato M, Kohr MJ, Quirin C, Menabò R, Alanova P, Alan L, Pellattiero A, Murphy E, Di Lisa F, Scorrano L.   +9 more
europepmc   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Parapapillary atrophy and optic disc region assessment (PANDORA):retinal imaging tool for assessment of the optic disc and parapapillary atrophy [PDF]

, 2012
We describe a computer-aided measuring tool, named parapapillary atrophy and optic disc region assessment (PANDORA), for automated detection and quantification of both the parapapillary atrophy (PPA) and the optic disc (OD) regions in two-dimensional ...
Lu, Cheng-Kai, Dhillon, Baljean, Laude, Augustinus, Tang, Tong Boon, Murray, Alan F   +4 more
core   +1 more source