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Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.

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1 Published in 2022 at "Annals of neurology"

DOI: 10.1002/ana.26366

Abstract: OBJECTIVE Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the… read more here.

Keywords: pnpt1 variants; ataxia; variants cause; pnpt1 ... See more keywords

Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features.

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1 Published in 2021 at "Mitochondrion"

DOI: 10.1016/j.mito.2021.03.012

Abstract: Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which… read more here.

Keywords: dysfunction; pnpt1; variant; mitochondrial dysfunction ... See more keywords

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

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1 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

SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer

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1 Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231911399

Abstract: The Polyribonucleotide nucleotidyltransferase 1 gene (PNPT1) encodes polynucleotide phosphorylase (PNPase), a 3′-5′ exoribonuclease involved in mitochondrial RNA degradation and surveillance and RNA import into the mitochondrion. Here, we have characterized the PNPT1 promoter by in… read more here.

Keywords: pnpt1; expression; sp1 nfy; gene ... See more keywords