| Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system. | Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system.
Falchi FA, Forti F, Carnelli C, Genco A, Pizzoccheri R, Manzari C, Pavesi G, Briani F., Free PMC Article | 07/25/2023 |
| SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. | SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer.
Ventura I, Revert F, Revert-Ros F, Gómez-Tatay L, Prieto-Ruiz JA, Hernández-Andreu JM., Free PMC Article | 10/22/2022 |
| Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. | Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. | 06/25/2022 |
| Activity and Function in Human Cells of the Evolutionary Conserved Exonuclease Polynucleotide Phosphorylase. | Activity and Function in Human Cells of the Evolutionary Conserved Exonuclease Polynucleotide Phosphorylase.
Falchi FA, Pizzoccheri R, Briani F., Free PMC Article | 03/12/2022 |
| Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? | Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. | 03/5/2022 |
| PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Vanniya S P, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Cheng L, Shomron N, Srisailapathy CRS. | 01/29/2022 |
| 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. | 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.
Hosseini Bereshneh A, Rezaei Z, Jafarinia E, Rajabi F, Ashrafi MR, Tavasoli AR, Garshasbi M. | 01/29/2022 |
| Ocular Manifestations of PNPT1-Related Neuropathy. | Ocular Manifestations of PNPT1-Related Neuropathy.
Kuht HJ, Thomas KA, Hisaund M, Maconachie GDE, Thomas MG. | 01/15/2022 |
| PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study. | PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study.
Mu G, Xiang Q, Zhang Z, Liu C, Zhang H, Liu Z, Pang X, Jiang J, Xie Q, Zhou S, Wang Z, Hu K, Wang Z, Jiang S, Qin X, Cui Y. | 05/29/2021 |
| PNPT1-related disorders may constitute a spectrum rather than distinct phenotypes. | Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM, Care4Rare Canada Consortium. | 09/28/2019 |
| Our cases expand the phenotypic spectrum of PNPT1 mutations that can cause delayed myelination. | Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.
Sato R, Arai-Ichinoi N, Kikuchi A, Matsuhashi T, Numata-Uematsu Y, Uematsu M, Fujii Y, Murayama K, Ohtake A, Abe T, Kure S. | 08/3/2019 |
| The disease-linked human PNPase mutants, Q387R and E475G, form dimers, not trimers, and have significantly lower RNA binding and degradation activities compared to wild-type. The S1 domain is responsible for binding structured RNAs. The RNA-binding K homology and S1 domains are inaccessible in the dimeric assembly. Mutations at the trimeric PNPase interface produce a dimeric protein with destructsive RNA-binding surfaces. | Crystal structure of dimeric human PNPase reveals why disease-linked mutants suffer from low RNA import and degradation activities.
Golzarroshan B, Lin CL, Li CL, Yang WZ, Chu LY, Agrawal S, Yuan HS., Free PMC Article | 07/13/2019 |
| The PNPT1 p.Arg136His and p.Pro140Leu variants in our subject showed 1) the mutated amino acids are highly conserved and our structural analysis supported them to be functionally deleterious; 2) The carrier frequencies of the variants are very low in populations (1:60.000), with no homozygous carriers found; 3) The RC complex amounts in the subject's myoblasts were functionally rescued by expression of wild-type PNPT1. | Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, Paetau A, Isohanni P, Suomalainen A. | 01/13/2018 |
| Inhibition of homologous PNPase by citrate may represent an evolutionarily conserved communicative link between RNA degradation and central metabolism. | Inhibition of homologous phosphorolytic ribonucleases by citrate may represent an evolutionarily conserved communicative link between RNA degradation and central metabolism.
Stone CM, Butt LE, Bufton JC, Lourenco DC, Gowers DM, Pickford AR, Cox PA, Vincent HA, Callaghan AJ., Free PMC Article | 09/9/2017 |
| In vitro rescue experiments, using exogenous expression of wild-type PNPT1 in patient fibroblasts, ameliorated the deficiencies in the OXPHOS complex protein expression, supporting the likely pathogenicity of these variants and the importance of Whole-exome sequencingin efficiently identifying rare genetic disease genes | Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J., Free PMC Article | 07/29/2017 |
| this study provides further evidence that hPNPase(old-35) is associated with global changes in cell cycle-associated genes and identifies potential gene targets for future investigation | Analysis of global changes in gene expression induced by human polynucleotide phosphorylase (hPNPase(old-35)).
Sokhi UK, Bacolod MD, Emdad L, Das SK, Dumur CI, Miles MF, Sarkar D, Fisher PB., Free PMC Article | 10/25/2014 |
| fresh insight into cellular pathways regulated by PNPT1 | Identification of genes potentially regulated by human polynucleotide phosphorylase (hPNPase old-35) using melanoma as a model.
Sokhi UK, Bacolod MD, Dasgupta S, Emdad L, Das SK, Dumur CI, Miles MF, Sarkar D, Fisher PB., Free PMC Article | 06/21/2014 |
| Interaction between PNPase and hSuv3 is essential for efficient mitochondrial RNA degradation. | Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci.
Borowski LS, Dziembowski A, Hejnowicz MS, Stepien PP, Szczesny RJ., Free PMC Article | 04/6/2013 |
| Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. | Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A., Free PMC Article | 01/26/2013 |
| A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. | A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C., Free PMC Article | 01/26/2013 |
| a novel role of nEGFR in radioresistance, and that is, upon ionizing radiation, nEGFR inactivates the ribonuclease activity of PNPase toward c-MYC mRNA through DNAPK-mediated Ser-776 phosphorylation | Nuclear EGFR suppresses ribonuclease activity of polynucleotide phosphorylase through DNAPK-mediated phosphorylation at serine 776.
Yu YL, Chou RH, Wu CH, Wang YN, Chang WJ, Tseng YJ, Chang WC, Lai CC, Lee HJ, Huo L, Chen CH, Hung MC., Free PMC Article | 11/24/2012 |
| The study provides structural and functional insights into hPNPase, which uses a KH pore to trap a long RNA 3' tail that is further delivered into an RNase PH channel for the degradation process. | Crystal structure of human polynucleotide phosphorylase: insights into its domain function in RNA binding and degradation.
Lin CL, Wang YT, Yang WZ, Hsiao YY, Yuan HS., Free PMC Article | 07/21/2012 |
| targeted overexpression of hPNPase(old-35) represents a novel strategy to selectively downregulate RNA expression and consequently intervene in a variety of pathophysiological conditions | Human polynucleotide phosphorylase (hPNPase(old-35)): an evolutionary conserved gene with an expanding repertoire of RNA degradation functions.
Das SK, Bhutia SK, Sokhi UK, Dash R, Azab B, Sarkar D, Fisher PB., Free PMC Article | 06/18/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. | 09/15/2010 |
| The data support an unanticipated role for PNPASE in mediating the translocation of RNAs into mitochondria. | PNPASE regulates RNA import into mitochondria.
Wang G, Chen HW, Oktay Y, Zhang J, Allen EL, Smith GM, Fan KC, Hong JS, French SW, McCaffery JM, Lightowlers RN, Morse HC 3rd, Koehler CM, Teitell MA., Free PMC Article | 09/6/2010 |