Publications by authors named "L J GREENBAUM"
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFMilky white urine is most commonly due to chyluria secondary to filariasis, though other causes of milky white urine and other etiologies of chyluria must be considered. Evaluation of a 3-year-old girl with milky white urine demonstrated chyluria, but testing for filariasis was negative despite a history of travel to an endemic region. Magnetic resonance lymphangiography demonstrated a congenital lymphatic malformation, which was repaired following this minimally invasive imaging technique.
View Article and Find Full Text PDFArticle Synopsis
- - Variants in the CTSB gene are linked to an increased risk of Parkinson's disease (PD) and affect the activity of cathepsin B, an enzyme involved in breaking down proteins and regulating cellular processes related to autophagy and lysosome function.
- - CatB can both degrade the harmful alpha-synuclein protein associated with PD and potentially create shorter versions of it that are more prone to aggregation, complicating its role in PD pathology.
- - Experiments showed that inhibiting catB disrupts autophagy and lysosomal function, leading to an accumulation of toxic protein aggregates, while activating catB enhances the clearance of these aggregates in cell and neuron models.