Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy

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Title Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy
Creator Bhadra U. Pandya; Edward A. Margolin; Jonathan A. Micieli
Affiliation Temerty Faculty of Medicine (BUP), University of Toronto, Toronto, Canada; Department of Ophthalmology and Vision Sciences (EAM, JAM), Faculty of Medicine, University of Toronto, Toronto, Canada; and Kensington Vision and Research Centre (JAM), Toronto, Canada
Subject DNA; DNA, Mitochondrial / genetics; Humans; Kinesins / genetics; Mutation; Optic Atrophy, Hereditary, Leber / diagnosis; Optic Atrophy, Hereditary, Leber / genetics
Date 2024-03
Date Digital 2024-03
References 1. Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021;131:138267. 2. Yang TC, Yarmishyn AA, Yang YP, Lu PC, Chou SJ, Wang ML, Lin TC, Hwang DK, Chou YB, Chen SJ, Yu WK, Wang AG, Hsu CC, Chiou SH. Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients. Hum Mol Genet. 2020;29:1454-1464. 3. Mansukhani SA, Mehta DG, Renaud DL, Whealy MA, Chen JJ, Bhatti MT. Nuclear DNA mutation causing a phenotypic Leber hereditary optic neuropathy plus. Ophthalmology. 2021;128:628-631. 4. Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet. 2017;54:346-356. 5. Shah SH, Schiapparelli LM, Ma Y, Yokota S, Atkins M, Xia X, Cameron EG, Huang T, Saturday S, Sun CB, Knasel C, Blackshaw S, Yates JR, Cline HT, Goldberg JL. Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration. Elife. 2022;11:1-28.
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2024, Volume 44, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s63yz1cr
Setname ehsl_novel_jno
ID 2646734
Reference URL https://collections.lib.utah.edu/ark:/87278/s63yz1cr
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