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PMDs

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Protein misfolding diseases

Protein misfolding diseases (PMDs) are a large group of human disorders caused by the misfolding of specific proteins. These diseases span a wide range of conditions that impact millions of lives, including Alzheimer’s disease, cystic fibrosis, obesity, and retinitis pigmentosa.

Different PMDs are associated with different proteins (soluble or membrane-bound, globular or intrinsically disordered etc.), they affect different organs (brain, lungs, heart, eyes etc.) and they present very distinct pathologies (neurodegeneration, heart failure, blindness etc.). Despite their differences, from the types of proteins involved to the organs they affect and the symptoms they cause, they all share a common molecular thread: protein misfolding.
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Protein misfolding diseases

Among the >70 known PMDs, about 2/3 are caused by the misfolding of soluble proteins, while the rest of the more than 20 diseases are attributed to the misfolding of membrane proteins (MPs). Despite their profound impact, the majority of the PMD remain incurable, particularly those caused by misfolding-prone membrane proteins (MisMPs). These diseases are typically driven by mutations that destabilize MPs, causing them to be trapped in the endoplasmic reticulum (ER) instead of reaching the plasma membrane where they can function properly.
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Usher Syndrome III

Usher Syndrome is a group of genetic conditions that affect both hearing and vision. Usher Syndrome III (USH3) is one of the three types of Usher Syndrome, characterized by progressive hearing loss, vision loss due to retinitis pigmentosa, and, in some cases, balance problems. While all types of Usher Syndrome share similar symptoms, USH3 tends to have a later onset and a more variable progression.
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Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves, which are responsible for transmitting information and signals between the central nervous system and the rest of the body. Named after the three physicians who first identified it, CMT is one of the most common inherited nerve disorders, affecting approximately 1 in 2,500 people worldwide.