An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.77
Abstract: Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome… read more here.
Keywords: delayed myelination; myelination; case spg56; spastic paraplegia ... See more keywords
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13068
Abstract: Recent studies suggest that impaired transcription or mitochondrial translation of small RNAs can cause abnormal myelination. A polynucleotide phosphorylase (PNPase) encoded by PNPT1 facilitates the import of small RNAs into mitochondria. PNPT1 mutations have been… read more here.
Keywords: pnpase; delayed myelination; pnpt1; myelination ... See more keywords