نتایج جستجو برای: pelizaeus
تعداد نتایج: 366 فیلتر نتایج به سال:
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). We investigated 17 unrelated PMD su...
We examined two sibs with the classic form of Pelizaeus-Merzbacher disease (PMD) and their relatives. Electromyographic-electroneurographic studies and magnetic stimulation of motor pathways were performed. In both patients we found an absence of compound motor action potential (cMAP) after stimulation of the motor cortex and a normal conduction time by stimulating the cervical roots. Despite r...
Recessive mutations in GJA12/Cx47, the gene encoding the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by severe CNS dysmyelination. Three missense PMLD mutations, P87S, Y269D and M283T, were expressed in communication-incompetent HeLa cells, and in each case the mutant proteins appeared to at least partially accumulate in the ER....
Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2. PLP1 expression must be tightly regulated since null mutations, as well as elevated PLP1 copy number, both lead to disease. Previous studies with Plp1-lacZ transgenic mice have demonstrated that mouse Plp1 ( mPlp1) intron ...
Missense mutations in human PLP1, the gene encoding myelin proteolipid protein (PLP), cause dysmyelinating Pelizaeus-Merzbacher disease of varying severity. Although disease pathology has been linked to retention of misfolded PLP in the endoplasmic reticulum (ER) and induction of the unfolded protein response (UPR), the molecular mechanisms that govern phenotypic heterogeneity remain poorly und...
A large number of mutations in the human PLP1 gene lead to abnormal myelination and oligodendrocyte death in Pelizaeus-Merzbacher disease (PMD). Here we show that a major subgroup of PMD mutations that map into the extracellular loop region of PLP/DM20 leads to the failure of oligodendrocytes to form the correct intramolecular disulfide bridges. This leads to abnormal protein cross-links and en...
P elizaeus-Merzbacher disease (PMD, MIM 312080) is an X linked disorder characterised by dysmyelination of the central nervous system (CNS) 2 (see review by Koeppen and Robitaille). Two main forms of the disease, a connatal and a classical type, are recognised. The connatal type has a severe course with feeding problems, progressive pyramidal and extrapyramidal symptoms, laryngeal stridor, micr...
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