Publications by authors named "J Florer"
Article Synopsis
- Gaucher disease (GD) is linked to mutations in the GBA1 gene, leading to insufficient acid β-glucosidase activity, which causes issues in neuron development and function.
- Research utilized induced pluripotent stem cells (iPSCs) from GD type 2 (GD2) patients to investigate how these mutations affect neurons, revealing a deficiency in GCase and an accumulation of specific lipids, which are related to the disease.
- The study found that GD2 neurons exhibit abnormal electrophysiological properties, such as less negative resting membrane potentials and reduced action potential amplitudes, indicating that these alterations may contribute to the neurological symptoms associated with Gaucher disease.
Article Synopsis
- Collagen V is crucial for forming fibrils with collagen I, and its absence leads to lethal issues in mice due to improper embroyonic tissue assembly.
- A modified mouse model lacking Collagen V allowed researchers to study its specific role in the corneal stroma, revealing significant structural abnormalities in collagen organization.
- The study highlights that Collagen V is essential for proper tissue development and transparency, with its absence causing disorganized fibrils and increased haze in the corneal stroma.
Collagens V and XI comprise a single regulatory type of fibril-forming collagen with multiple isoforms. Both co-assemble with collagen I or II to form heterotypic fibrils and have been implicated in regulation of fibril assembly. The objective of this study was to determine the roles of collagens V and XI in the regulation of tendon fibrillogenesis.
View Article and Find Full Text PDFThe objectives of this study were to determine how culture time and dynamic compression, applied to murine chondrocyte-agarose constructs, influence construct stiffness, expression of col2 and type II collagen. Chondrocytes were harvested from the ribs of six newborn double transgenic mice carrying transgenes that use enhanced cyan fluorescent protein (ECFP) and green fluorescent protein (GFP-T) as reporters for expression from the col2a1 and col1a1 promoters, respectively. Sixty-three constructs (8 mm diameter x 3 mm thick) per animal were created by seeding chondrocytes (10 x 10(6) per mL) in agarose gel (2% w/v).
View Article and Find Full Text PDFGenetic mutations in minor fibrillar collagen types Va1 (ColVa1) and XIa1 (ColXI) have been identified in connective tissue disorders including Ehlers-Danlos syndrome and chondrodysplasias. ColVa1+/- and ColXIa1-/- mutant mice recapitulate these human disorders and show aberrations in collagen fiber organization in connective tissue of the skin, cornea, cartilage, and tendon. In the heart, fibrous networks of collagen fibers form throughout the ventricular myocardium and heart valves, and alterations in collagen fiber homeostasis are apparent in many forms of cardiac disease associated with myocardial dysfunction and valvular insufficiency.
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