Publications by authors named "Magdalena Karwatka"
Loss of glycogen myophosphorylase (PYGM) expression results in an inability to break down muscle glycogen, leading to McArdle disease-an autosomal recessive metabolic disorder characterized by exercise intolerance and muscle cramps. While previously considered relatively benign, this condition has recently been associated with pattern dystrophy in the retina, accompanied by variable sight impairment, secondary to retinal pigment epithelial (RPE) cell involvement. However, the pathomechanism of this condition remains unclear.
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- - The spliceosomal protein PRPF8's carboxy-terminus mutation is linked to retinitis pigmentosa-type 13, but its specific role in human splicing and tissue-specificity is not well understood.
- - Using patient-derived stem cells with a specific PRPF8 mutation, researchers observed retinal cell defects like photoreceptor loss and ciliary issues, highlighting retinal-specific endophenotypes.
- - Detailed analyses showed that PRPF8 influences spliceosome function, affecting 5'-splice site selection and leading to splicing abnormalities, which could provide insights for future therapeutic strategies for retinal diseases.
Chikungunya virus (CHIKV) is a re-emerging, pathogenic alphavirus that is transmitted to humans by Aedes spp. mosquitoes-causing fever and debilitating joint pain, with frequent long-term health implications and high morbidity. The CHIKV lifecycle is poorly understood and specific antiviral therapeutics or vaccines are lacking.
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