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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation

Biochemistry and Biophysics Reports

Dec 1, 2019

Naoto MatsumotoJunji Yamauchi

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Abstract

Pelizaeus-Merzbacher disease (PMD) is a central nervous system (CNS) demyelinating disease in human, currently known as prototypic hypomyelinating leukodystrophy 1 (HLD1). The gene responsible for HLD1 encodes proteolipid protein 1 (PLP1), which is the major myelin protein produced by o...read more

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Amino Acyl-tRNA Synthetases
Arginine-tRNA Ligase
Cell Differentiation Process
Cytoplasm
Demyelinating Diseases
Down-Regulation
Endoplasmic Reticulum
Genes
Lysosomes
Myelin Proteins
3
1
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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation

Biochemistry and Biophysics Reports

Dec 1, 2019

Naoto MatsumotoJunji Yamauchi

PMID: 31737794

DOI: 10.1016/j.bbrep.2019.100705

Abstract

Pelizaeus-Merzbacher disease (PMD) is a central nervous system (CNS) demyelinating disease in human, currently known as prototypic hypomyelinating leukodystrophy 1 (HLD1). The gene responsible for HLD1 encodes proteolipid protein 1 (PLP1), which is the major myelin protein produced by o...read more

Mentioned in this Paper

Amino Acyl-tRNA Synthetases
Arginine-tRNA Ligase
Cell Differentiation Process
Cytoplasm
Demyelinating Diseases
3
1

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