Concise Review: Stem Cell‐Based Treatment of Pelizaeus‐Merzbacher Disease
Sign Up to like & getrecommendations! Published in 2017 at "STEM CELLS"
DOI: 10.1002/stem.2530
Abstract: Pelizaeus‐Merzbacher disease (PMD) is an X‐linked disorder caused by mutation in the proteolipid protein‐1 (PLP1) gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but… read more here.
Keywords: stem; merzbacher disease; pelizaeus merzbacher; stem cell ... See more keywords
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/hgv.2018.13
Abstract: Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the… read more here.
Keywords: pelizaeus merzbacher; diagnosis; merzbacher disease; respiratory distress ... See more keywords
Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-2494-3
Abstract: Mutations in PLP1 , the gene that encodes proteolipid protein (PLP), result in failure of myelination and neurological dysfunction in the X-chromosome-linked leukodystrophy Pelizaeus–Merzbacher disease (PMD) 1 , 2 . Most PLP1 mutations, including point mutations… read more here.
Keywords: protein; pelizaeus merzbacher; plp1; proteolipid protein ... See more keywords
Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease
Sign Up to like & getrecommendations! Published in 2020 at "Brain"
DOI: 10.1093/brain/awaa080
Abstract: Gruenenfelder et al. report that direct neural stem cell transplantation in an animal model of Pelizaeus-Merzbacher disease restores normal myelin in the face of competition from myelin-competent mutant oligodendrocytes. These data have implications for other… read more here.
Keywords: pelizaeus merzbacher; neural stem; model pelizaeus; merzbacher disease ... See more keywords
Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Child Neurology"
DOI: 10.1177/08830738231152658
Abstract: Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting… read more here.
Keywords: disease caregiver; disease; merzbacher disease; impact ... See more keywords
Magnetic Resonance Imaging and Spectroscopy Analysis in a Pelizaeus–Merzbacher Disease Rat Model
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12081864
Abstract: Pelizaeus–Merzbacher disease (PMD) is an X-linked recessive disorder of the central nervous system. We performed 7 Tesla magnetic resonance imaging of the brain in Tama rats, a rodent PMD model, and control rats, as well… read more here.
Keywords: magnetic resonance; merzbacher disease; spectroscopy; pelizaeus merzbacher ... See more keywords