ke tit e n ec SUMMARYmyelination has been shown to correlate well with the expression of chaperone proteins to facilitate protein have beenprotein 1 (PLP1) gene has been identified as a causative gene for PMD. PLP1 is a transmembrane protein that is shown to activate apoptotic pathway of UPR to eliminate damaged OLs.clinical severity of PMD (Seitelberger, 1995). The proteolipid folding, excessive levels of unfolded proteinsINTRODUCTION Analysis of differentiated cells from disease-specific, hu-man induced pluripotent stem cells (iPSCs) enables the construction of pathological models using the patients’ own cells. Such analyses are particularly useful for the study of neurodegenerative disorders because it is difficul
Item does not contain fulltextWe describe five boys from different families with an atypically sever...
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impair...
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clin...
The two proteins, proteolipid protein and DM20, which are encoded by alternative transcripts from th...
Pelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations in the p...
SummaryPelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations i...
International audiencePelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting th...
The most common cause of Pelizaeus-Merzbacher (PMD) is due to duplication of the PLP1 gene but it is...
Pelizaeus-Merzbacher disease (PMD) results from mutations in the proteolipid protein 1 (PLP1) gene i...
Hobson, GraceDeLeon, Patricia A.Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerat...
Summary: Pelizaeus-Merzbacher disease (PMD) is a fatal X-linked disorder caused by loss of myelinati...
International audiencePelizaeus-Merzbacher disease (PMD) results from an X-linked misexpression of p...
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid ...
AbstractThe PLP1 gene encodes two protein isoforms (PLP and DM20) which represent the predominant pr...
Myelin proteolipids (PLP and DM20) are encoded by a single gene and comprise \u3e50% total protein m...
Item does not contain fulltextWe describe five boys from different families with an atypically sever...
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impair...
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clin...
The two proteins, proteolipid protein and DM20, which are encoded by alternative transcripts from th...
Pelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations in the p...
SummaryPelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations i...
International audiencePelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting th...
The most common cause of Pelizaeus-Merzbacher (PMD) is due to duplication of the PLP1 gene but it is...
Pelizaeus-Merzbacher disease (PMD) results from mutations in the proteolipid protein 1 (PLP1) gene i...
Hobson, GraceDeLeon, Patricia A.Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerat...
Summary: Pelizaeus-Merzbacher disease (PMD) is a fatal X-linked disorder caused by loss of myelinati...
International audiencePelizaeus-Merzbacher disease (PMD) results from an X-linked misexpression of p...
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid ...
AbstractThe PLP1 gene encodes two protein isoforms (PLP and DM20) which represent the predominant pr...
Myelin proteolipids (PLP and DM20) are encoded by a single gene and comprise \u3e50% total protein m...
Item does not contain fulltextWe describe five boys from different families with an atypically sever...
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impair...
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clin...