Publications by authors named "A Dobrzyn"
Endosomal Sorting Complexes Required for Transport (ESCRTs) are crucial for delivering membrane receptors or intracellular organelles for lysosomal degradation which provides the cell with lysosome-derived nutrients. Yet, how ESCRT dysfunction affects cell metabolism remained elusive. To address this, we analyzed transcriptomes of cells lacking TSG101 or VPS28 proteins, components of ESCRT-I subcomplex.
View Article and Find Full Text PDFNeurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an autosomal recessive mutation in the C19orf12 gene. In this work, we generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.
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- Mutations in several genes, like PANK2 and PLA2G6, are linked to different subtypes of the inherited disease Neurodegeneration with Brain Iron Accumulation (NBIA), with four main subtypes accounting for the majority of cases.
- Recent findings suggest additional mutations affecting iron and lipid metabolism may also contribute to the disease's development.
- A study on fibroblasts from patients with C19orf12 mutations found abnormalities that correlated with disease severity, indicating these cellular changes could be important in understanding the pathomechanism of NBIA.
Metabolic impairments in neurodegeneration with brain iron accumulation.
Biochim Biophys Acta Bioenerg
January 2025
Article Synopsis
- Neurodegeneration with brain iron accumulation (NBIA) is a rare group of inherited diseases affecting 1-3 patients per 1,000,000, with around 15,000-20,000 cases globally characterized by abnormal iron buildup in the brain.
- Symptoms include progressive movement issues, neuropathy, cognitive decline, and various neuropsychiatric disorders, with eleven identified subtypes, including common forms like PKAN and PLAN.
- The overview addresses cellular imbalances and metabolic changes in NBIA subtypes, particularly focusing on mitochondrial function and lipid metabolism to enhance understanding of the disease.
Investigating the potential of human cardiomyocytes derived from induced pluripotent stem cells (iPSC-CMs) in in vitro heart models is essential to develop cardiac regenerative medicine. iPSC-CMs are immature with a fetal-like phenotype relative to cardiomyocytes in vivo. Literature indicates methods for enhancing the structural maturity of iPSC-CMs.
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