Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes-Reference-Cited by-同舟云学术

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Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

Published:2020-05-25 Issue:8 Volume:182 Page:1960-1966
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gibson Shelley¹,Azamian Mahshid S.¹²,Lalani Seema R.¹²^ORCID,Yen Kimberly G.²³,Sutton V. Reid¹²,Scott Daryl A.¹²⁴^ORCID

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas USA

2. Texas Children's Hospital Houston Texas USA

3. Department of OphthalmologyBaylor College of Medicine Houston Texas USA

4. Department of Molecular Physiology and BiophysicsBaylor College of Medicine Houston Texas USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61634

Reference28 articles.

1. Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

3. A third locus for dominant optic atrophy on chromosome 22q

4. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

5. An evaluation of genetic causes and environmental risks for bilateral optic atrophy

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1. Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy;Neurology;2023-10-10

2. Kinetic and Regulatory Properties of Yarrowia lipolytica Aconitate Hydratase as a Model-Indicator of Cell Redox State under pH Stress;International Journal of Molecular Sciences;2023-04-21

3. Identification of AGXT2, SHMT1, and ACO2 as important biomarkers of acute kidney injury by WGCNA;PLOS ONE;2023-02-03

4. Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling;Frontiers in Genetics;2022-03-11

5. Genetic disorders affecting the optic nerve;Clinical Ophthalmic Genetics and Genomics;2022

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