TITLE: Different Proteolipid Protein Mutants Exhibit Unique Metabolic Defects
نویسندگان
چکیده
LIST OF ABBREVIATIONS: AIF, apoptosis inducing factor; CcO, cytochrome c oxidase; • • m, mitochondrial membrane potential; ER, endoplasmic reticulum; EM, electron microscopy; IMM, inner mitochondrial membrane; jp, jimpy mouse; mtCK, mitochondrial creatine kinase; Olg, oligodendrocyte; OMM, outer mitochondrial membrane; PARP, poly (ADP-ribose) polymerase; Plp1, X-linked myelin proteolipid protein gene; Plp1tg, mice with Plp1 duplications; PMD, Pelizaus-Merzbacher Disease; UPR, unfolded protein response ASN NEURO Immediate Publication. Published on 7 August 2009 as manuscript AN20090028
منابع مشابه
Different proteolipid protein mutants exhibit unique metabolic defects
PMD (Pelizaeus-Merzbacher disease), a CNS (central nervous system) disease characterized by shortened lifespan and severe neural dysfunction, is caused by mutations of the PLP1 (X-linked myelin proteolipid protein) gene. The majority of human PLP1 mutations are caused by duplications; almost all others are caused by missense mutations. The cellular events leading to the phenotype are unknown. T...
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