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Ablation of lipocalin-2 reduces neuroinflammation in a mouse model of Krabbe disease.
Sci Rep
December 2024
Department of Biotechnical and Clinical Laboratory Sciences, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, 14214, USA.
Lipocalin-2 (LCN2) is an acute-phase secretory molecule significantly upregulated in various neuroinflammatory and demyelinating conditions. Krabbe disease (KD) is a neurodegenerative lysosomal disorder caused by a galactosylceramidase (GALC) deficiency, accumulating cytotoxic psychosine in nervous systems, and subsequent neuroinflammation. Here, we show that LCN2 is highly overexpressed in GALC-deficient astrocytes.
View Article and Find Full Text PDFHuman iPSC-derived myelinating organoids and globoid cells to study Krabbe disease.
PLoS One
December 2024
Departments of Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, United States of America.
Article Synopsis
- - Krabbe disease (Kd) is caused by a deficiency in the enzyme GALC, leading to the accumulation of the lipid galactosylceramide (GalCer), which produces a toxic lipid called psychosine that damages myelinating cells and leads to demyelination.
- - Research using induced pluripotent stem cells (iPSCs) from Kd patients revealed that Kd myelinating organoids exhibit early myelination defects without affecting other cell types, while the microglia in these organoids show changes in response to GalCer feeding.
- - The findings suggest that while Kd model organoids don't show classic lysosomal dysfunction, they provide an essential platform for studying the mechanisms behind demyel
Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity.
Cells
November 2024
Department of Neurology, MacKay Children's Hospital, Taipei 10449, Taiwan.
Leukodystrophies represent a heterogeneous group of disorders characterized by specific genetic mutations, metabolic abnormalities, and degeneration of white matter in the central nervous system. These disorders are classified into several categories, with X-linked adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy (MLD), and globoid cell leukodystrophy (GLD) being the most prevalent demyelinating leukodystrophies in pediatric populations. Maintaining proteostasis, which is critical for normal cellular function, relies fundamentally on the ubiquitin-proteasome system (UPS) and autophagy for the degradation of misfolded and damaged proteins.
View Article and Find Full Text PDFInfantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.
Ann Clin Transl Neurol
December 2024
Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Article Synopsis
- Krabbe disease is caused by a deficiency in galactocerebrosidase, leading to severe neurodegeneration, particularly in infants, and the study aimed to track the disease's progression and the impact of hematopoietic stem cell transplantation (HSCT).* -
- The research involved 137 infants with Krabbe disease over 22 years, comparing outcomes between those who underwent HSCT and those who did not, revealing that early symptoms could include irritability and developmental delays, and overall survival rates varied significantly based on treatment.* -
- Results indicated that while HSCT improved galactocerebrosidase levels and extended lifespan, it couldn't halt the progression of nerve damage, emphasizing the critical need for
Measurement of lysosomal disease (LD) biomarkers can reveal valuable information about disease status. Lyso-globotriaosylceramide (lyso-Gb), glucosylsphingosine (lyso-Gb), galactosylsphingosine (psychosine), and glucose tetrasaccharide (Glca1-6Glca1-4Glca1-4Glc, Glc) are biomarkers associated with Fabry, Gaucher, Krabbe, and Pompe disease, respectively. Clinical biomarker testing is performed to guide patient management, including monitoring disease progression and initiating treatment, and in diagnostic evaluations of either symptomatic patients or asymptomatic individuals with a positive family history or abnormal newborn screen.
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