Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Ophthalmic Genet. 2023 Mar 1:1-8. doi: 10.1080/13816810.2023.2183223. Online ahead of print. ABSTRACT BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial […]
Rescuing cellular function in Fuchs endothelial corneal dystrophy by healthy exogenous mitochondrial internalization
Sci Rep. 2023 Feb 28;13(1):3380. doi: 10.1038/s41598-023-30383-8. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is characterized by an accelerated loss of corneal endothelial cells. Since the function of these cells is to maintain the cornea in a state of deturgescence necessary for its transparency, the depletion of corneal endothelial cells ultimately causes corneal edema and irreversible […]
FDX1-dependent and independent mechanisms of elesclomol-mediated intracellular copper delivery
Proc Natl Acad Sci U S A. 2023 Mar 7;120(10):e2216722120. doi: 10.1073/pnas.2216722120. Epub 2023 Feb 27. ABSTRACT Recent studies have uncovered the therapeutic potential of elesclomol (ES), a copper-ionophore, for copper deficiency disorders. However, we currently do not understand the mechanism by which copper brought into cells as ES-Cu(II) is released and delivered to cuproenzymes […]
Short communication: unique metabolic signature of proliferative retinopathy in the tear fluid of diabetic patients with comorbidities – preliminary data for PPPM validation
EPMA J. 2023 Feb 22;14(1):1-9. doi: 10.1007/s13167-023-00318-4. Online ahead of print. ABSTRACT Type 2 diabetes (T2DM) defined as the adult-onset type that is primarily not insulin-dependent, comprises over 95% of all diabetes mellitus (DM) cases. According to global records, 537 million adults aged 20-79 years are affected by DM that means at least 1 out […]
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
Pharmaceutics. 2023 Jan 18;15(2):322. doi: 10.3390/pharmaceutics15020322. ABSTRACT AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders have a mitochondrial involvement from primary mitochondrial disorders such as Leber hereditary optic […]
Insight into the mechanisms of coronaviruses evading host innate immunity
Biochim Biophys Acta Mol Basis Dis. 2023 Feb 27:166671. doi: 10.1016/j.bbadis.2023.166671. Online ahead of print. ABSTRACT The SARS-CoV-2 induced coronavirus disease (COVID-19) has recently caused a pandemic. Patients with COVID-19 presented with a wide spectrum of symptoms for the disease, from entirely asymptomatic to full-blown pneumonia and multiorgan failures. More evidence emerged, showing the production […]
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Ophthalmic Genet. 2023 Mar 1:1-8. doi: 10.1080/13816810.2023.2183223. Online ahead of print. ABSTRACT BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial […]
Rescuing cellular function in Fuchs endothelial corneal dystrophy by healthy exogenous mitochondrial internalization
Sci Rep. 2023 Feb 28;13(1):3380. doi: 10.1038/s41598-023-30383-8. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is characterized by an accelerated loss of corneal endothelial cells. Since the function of these cells is to maintain the cornea in a state of deturgescence necessary for its transparency, the depletion of corneal endothelial cells ultimately causes corneal edema and irreversible […]
Molybdenum Cofactor Deficiency
2021 Dec 2 [updated 2023 Feb 2]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal […]
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX
Ophthalmic Genet. 2023 Feb 2:1-4. doi: 10.1080/13816810.2023.2172190. Online ahead of print. ABSTRACT BACKGROUND: Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis. RESULTS: We report a case […]