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3 articles from the last 30 days matching "Glycogen Storage Disease Type II"

ResearchBIORXIV2 days ago

Preprint: Seeding patient-derived tau induces tauopathy-specific aggregation and lysosomal disruption in human cells

Scientists created a new laboratory model using brain cells to study how tau proteins clump together in different brain diseases. They used actual tau from patient brains instead of artificial versions, which helps them understand why different diseases cause different types of tau damage. This model also showed how tau clumping breaks down the cell's recycling system, called lysosomes.

WHY IT MATTERSThis research provides a more accurate way to test potential treatments for tauopathies by using real patient tau, which could lead to better drugs that target the specific type of tau damage in individual diseases.
Good to knowAlzheimer's diseaseProgressive supranuclear palsyCorticobasal degeneration
NewsRSS6 days ago

With Pompe Disease, Getting Older Brings New Health Issues

As people with Pompe disease get older, they may experience new health problems that are hard to tell apart from regular aging. One woman with Pompe disease shares her story about how her condition affects her health as she gets older. This article helps patients understand what changes might be related to their rare disease versus normal aging.

WHY IT MATTERSAdults with Pompe disease need to know which new health symptoms are disease-related versus age-related so they can discuss them with their doctors and get appropriate treatment.
Good to knowPompe disease
AdvocacyRSSMay 4

Riding the Absa Cape Epic With Pompe Disease: The Story No One Sees

Bruce Campbell, who has Pompe disease, competed in the Absa Cape Epic, a major mountain biking race. This article shares the hidden challenges he faced during the race that most people don't see. It shows what it's like to push your body to its limits while managing a rare muscle disease.

WHY IT MATTERSThis story demonstrates that people living with Pompe disease can pursue athletic goals and extreme physical challenges, which may inspire patients and help caregivers understand what's possible with proper management.
Good to knowPompe disease

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