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Surprising culprit found in cell recycling defect

Scientists at Washington University School of Medicine have identified a rare genetic disease caused by the misplacement of a normal protein, phosphotransferase. The protein ends up in the lysosomes, causing a shortage of enzymes and leading to skeletal and heart abnormalities.

SourceWashU Medicine·JournalProceedings of the National Academy of Sciences·DateFeb 20, 2014

Exit discovered in cellular garbage truck

A team of researchers led by Professor Jean Gruenberg has identified an exit in the cellular garbage truck, a structure responsible for sorting molecules and ensuring inter-cell digestion and regulation. The study reveals how Alix protein uses this route to avoid cellular digestion and how vesicular stomatitis uses it to infect cells.

SourceUniversité de Genève·JournalDevelopmental Cell·DateMay 9, 2013

Surprising pathway implicated in stuttering

A new study found that mutations in a gene called NAGPA, which affects lysosomal function, are associated with persistent stuttering. The research provides evidence that impairment in cellular recycling centers may play a role in causing some people to stutter.

SourceWashU Medicine·JournalJournal of Biological Chemistry·DateNov 22, 2011

How the cellular 'garbage disposal' grinds to a halt to cause Batten disease

A team of researchers at the University of Rochester Medical Center discovered that a genetic defect affects lysosome protein arginine regulation, causing Batten disease. This condition leads to lysosomes malfunctioning and cells swelling with waste, ultimately killing brain cells and resulting in severe medical problems.

SourceUniversity of Rochester Medical Center·JournalProceedings of the National Academy of Sciences·DateJan 28, 2004