Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
Animals
CRISPR-Cas Systems
Disease Models, Animal
Female
Gene Editing
Hypoxia
/ metabolism
Male
Mice
Mice, Mutant Strains
Motor Activity
/ genetics
Myelin Proteolipid Protein
/ deficiency
Myelin Sheath
/ metabolism
Oligodendroglia
/ metabolism
Oligonucleotides, Antisense
/ administration & dosage
Pelizaeus-Merzbacher Disease
/ genetics
Point Mutation
Respiratory Function Tests
Survival Analysis
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
29
12
2018
accepted:
24
06
2020
pubmed:
2
7
2020
medline:
30
10
2020
entrez:
2
7
2020
Statut:
ppublish
Résumé
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)
Identifiants
pubmed: 32610343
doi: 10.1038/s41586-020-2494-3
pii: 10.1038/s41586-020-2494-3
pmc: PMC7810164
mid: NIHMS1606926
doi:
Substances chimiques
Myelin Proteolipid Protein
0
Oligonucleotides, Antisense
0
Plp1 protein, mouse
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
397-403Subventions
Organisme : NIH HHS
ID : S10 OD024981
Pays : United States
Organisme : NCATS NIH HHS
ID : TL1 TR002549
Pays : United States
Organisme : NIH HHS
ID : S10 OD026882
Pays : United States
Organisme : NIH HHS
ID : S10 OD016164
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA043703
Pays : United States
Organisme : NINDS NIH HHS
ID : T32 NS077888
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS093357
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007250
Pays : United States
Organisme : NICHD NIH HHS
ID : F30 HD084167
Pays : United States
Organisme : NICHD NIH HHS
ID : F30 HD096784
Pays : United States
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