Results 91 to 100 of about 9,987 (182)

Phenotypic variability related to dominant UCHL1 mutations:about three families with optic atrophy and ataxia

Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4].
Koenig, M., Hersent, C., Koenig, Michel, Benkirane, M., Nadjar, Y., Hao, Q.; id_orcid, Meunier, I., Hao, Q., Ramond, F., Taieb, G., Vignal, C., Marelli, C., Frost, S., Leboucq, N., Blanchet, C., Bocquet, B.   +15 more
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Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy

, 2022
Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers
Palikaras, Konstantinos, Sotiriou, Aggeliki, Scorrano, Luca, Zaninello, Marta, Tavernarakis, Nektarios   +4 more
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Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China

Journal of Ophthalmology, 2017
Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study.
Dekang Gan, Mengwei Li, Jihong Wu, Xinghuai Sun, Guohong Tian   +4 more
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Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy

JCI Insight
The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown.
Chenghui Wang, Liyao Zhang, Zhipeng Nie, Min Liang, Hanqing Liu, Qiuzi Yi, Chunyan Wang, Cheng Ai, Juanjuan Zhang, Yinglong Gao, Yanchun Ji, Min-Xin Guan   +11 more
doaj   +1 more source

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

, 2002
To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this ...
Andreasson, Sten, Van Regemorter, Nicole, Alexander, C, Andreasson, S., Munier, F.L., Eiberg, Hans Rudolf Lytchoff, Andreasson, S, Bhattacharya, SS, Bhattacharya, Shomi S., Rosenberg, T., Bhattacharya, S.S., Taanman, J.W., Moore, Anthony T., Rosenberg, Thomas, Thiselton, Dawn L, Munier, Francis, Thiselton, Dawn L., Taanman, J W, Thiselton, DL, Alexander, Christiane, Taanman, JW, Bhattacharya, Shomi S, Regemorter, Nicole van, Van Regemorter, N, Eiberg, Hans, Votruba, M., Votruba, M, Moore, A.T., Brooks, S, Eiberg, H, Rosenberg, T, Taanman, Jan-Willem, Munier, FL, Moore, Anthony T, Thiselton, D.L., Moore, AT, Munier, Francis L., Votruba, Marcela, Alexander, C., Brooks, S., Eiberg, H., Van Regemorter, N., Brooks, Simon   +42 more
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Walsh & Hoyt: Dominant Optic Neuropathy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no.
Nancy J. Newman, MD
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PYC-001, a Peptide Conjugated Oligonucleotide for the Treatment of Autosomal Dominant Optic Atrophy

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic neuropathy, characterized by a progressive degeneration of the retinal ganglion cells, leading to bilateral vision loss.
Sri Mudumba; Janya Graynok; Sasiwimon Utama; Tracy Chai; Emily Woodward; Danie Champain; Ferrer Ong; Megan Thorne; Munik Tian; Grace Liu; Maria Kerfoot; Adam Martin; Paula Cunningham; Dean De Alvis
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Identification of OPA1 Mutations in Autosomal Dominant Optic Atrophy (ADOA): Toward the Role of the Mitochondria in ADOA

, 2004
Mutations in the OPA1 gene product result in the most common form of autosomal dominant optic atrophy (ADOA).The OPA gene product has been localized to the mitochondria and OPA1 mutations disrupt the normal mitochondrial network within cells, leading to ...
Michael D. Brown, PhD; Jian Han, PhD; Alyson Reiss, BS; Valerie Biousse, MD; Nancy J. Newman, MD
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SSBP1 Missense Variants Cause Dominant Optic Atrophy with Variable Retinal Degeneration

, 2020
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy with a minimum prevalence of 1 in 25,000. About 60% of cases are due to pathogenic variants in the OPA1 gene.
Neringa Jurkute; Gavin Arno; Anthony Robson; Anthony Moore; Matthias Hammerschmidt; Peter Nürnberg; Andrew Webster; Marcela Votruba; Patrick Yu-Wai-Man
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Peripheral neuropathies of childhood

, 2009
Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
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