Key result
Endoglin missense mutations cause misfolding and lack of cell surface expression alone, but can dimerize with wild-type protein, indicating HHT1 can be caused by dominant-negative interactions or haploinsufficiency.
Population
In vitro models expressing endoglin mutations (six missense mutations and two truncation mutations)
Comparison
Expression of mutant endoglin vs Wild-type endoglin expression
Design
Preclinical
Authors
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Supports mutation-specific HHT1 mechanisms; leaves open clinical translation from animal models.
Demonstrates that Hereditary hemorrhagic telangiectasia type 1 (HHT1) can be caused by either dominant-negative protein interactions or haploinsufficiency, depending on the specific endoglin mutation.
Andreas Lux (2000) studied Hereditary hemorrhagic telangiectasia (HHT). Endoglin missense and truncation mutations vs. Wild-type endoglin was evaluated on Protein folding, cell surface expression, and dimerization. Endoglin missense mutations cause misfolding and lack of cell surface expression alone, but can dimerize with wild-type protein, indicating HHT1 can be caused by dominant-negative interactions or haploinsufficiency.
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