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Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 ( PLP1 ), a major myelin protein.
Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease.It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane.
Certain classes of Pelizaeus-Merzbacher disease (PMD), proteolipid protein 1 (PLP1) show perinuclear retention in oligodendrocytes. [30] Perinuclear retention of misfolded proteins is a hallmark of endoplasmic reticulum (ER) stress, which might be implicated in the pathology observed in PMD. [30]
In humans, point mutations in PLP are the cause of Pelizaeus–Merzbacher disease (PMD), a neurologic disorder of myelin metabolism. In animals demyelinating diseases such as mouse 'jimpy' or dog 'shaking pup' are also caused by mutations in PLP.
Tesar also identified CRISPR and antisense oligonucleotide therapeutics that restored myelination and extended the lifespan of mice with Pelizaeus–Merzbacher disease. [ 17 ] [ 18 ] [ 19 ] Awards
Pelizaeus–Merzbacher disease: PML Progressive multifocal leukoencephalopathy: PMS Premenstrual syndrome: POTS Postural orthostatic tachycardia syndrome: PPMA Post-polio progressive muscular atrophy: PPS Post-polio syndrome: PSC Primary sclerosing cholangitis: PSP Progressive supranuclear palsy: PTSD Post-traumatic stress disorder: PVL ...
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Normal looking at birth and for the first few years, hypotonic (floppy), in particular difficulty to hold the head, possibly difficulty to thrive, possibly with delayed myelination (if so, some cases are reported with an MRI pattern similar to Pelizaeus–Merzbacher disease, known as PMD [11]), possibly with decreased mitochondrial enzyme ...