Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy-Reference-Cited by-同舟云学术

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Published:2020-09-17 Issue:6 Volume:41 Page:563-569
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ahuja Abhimanyu S.¹^ORCID,Selvam Pavalan²,Vadlamudi Charitha²,Chopra Hayley³,Richter John E.,Macklin Sarah K.,Samreen Ayesha³,Helmi Haytham⁴,Mohammaad Ahmed N.⁴,Hines Stephanie⁵,Davila Maria C.,Atwal Paldeep S.²,Caulfield Thomas R.⁶⁷⁸⁹^ORCID

Affiliation:

1. Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, Florida, USA

2. Department of Clinical Genomics, Atwal Clinic, Jacksonville, Florida, USA

3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

4. Department of Endocrinology, Mayo Clinic, Jacksonville, Florida, USA

5. Department of Medicine, Division of Diagnostic & Consultative Medicine, Mayo Clinic, Jacksonville, Florida, USA

6. Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA

7. Department of Neurosurgery, Mayo Clinic, Jacksonville, Florida, USA

8. Department of Cancer Biology, Mayo Clinic, Jacksonville, Florida, USA

9. Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA

Funder

Center for Individualized Medicine, Mayo Clinic to complete the study

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1814344

Reference33 articles.

1. Μitochondrial Membrane Dynamics and Inherited Optic Neuropathies

2. OPA1 analysis in an international series of probands with bilateral optic atrophy

3. Mitophagy: mechanisms, pathophysiological roles, and analysis

4. Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells

5. The regulation of mitochondrial dynamics

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