| PRUNE1 (located on chromosome 1q21.3) promotes multiple myeloma with 1q21 Gain by enhancing the links between purine and mitochondrion. | PRUNE1 (located on chromosome 1q21.3) promotes multiple myeloma with 1q21 Gain by enhancing the links between purine and mitochondrion.
Xu J, Wang Y, Li P, Chen C, Jiang Z, Wang X, Liu P. | 11/20/2023 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene. | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA, Mohammadi-Sarband M, Fardanesh F, Garshasbi M., Free PMC Article | 06/18/2022 |
| An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. | An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G. | 12/4/2021 |
| NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. | NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN., Free PMC Article | 10/2/2021 |
| The PRUNE gene should be considered in all the individuals with non-5q spinal muscular atrophy. High creatine kinase values may be a part of PRUNE disease spectrum. | Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D, Daimagüler HS, Danyeli AE, Tekgül H, Wang H, Wunderlich G, Çırak S, Yiş U. | 08/13/2020 |
| Exome sequencing and homozygosity mapping identified a homozygous PRUNE1 mutation in a canonical splice site, which produces two abnormal PRUNE1 mRNA products. Based on our studies and the histopathology and phenotypic data, we provide further evidence that this disorder leads to a neurodegenerative disease affecting both the peripheral and central nervous systems and suggest that the pathogenic c.521-2A>G mutation could | A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P. | 02/8/2020 |
| show that mutant PRUNE1 mRNA can be subject to nonsense-mediated mRNA decay | PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. | 11/2/2019 |
| PRUNE1 deficiency causes severe early-onset disease affecting the central and peripheral nervous systems. | PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J. | 10/26/2019 |
| This study demonstrated that the role for PRUNE1 in metastatic MBGroup3. | Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition.
Ferrucci V, de Antonellis P, Pennino FP, Asadzadeh F, Virgilio A, Montanaro D, Galeone A, Boffa I, Pisano I, Scognamiglio I, Navas L, Diana D, Pedone E, Gargiulo S, Gramanzini M, Brunetti A, Danielson L, Carotenuto M, Liguori L, Verrico A, Quaglietta L, Errico ME, Del Monaco V, D'Argenio V, Tirone F, Mastronuzzi A, Donofrio V, Giangaspero F, Picard D, Remke M, Garzia L, Daniels C, Delattre O, Swartling FJ, Weiss WA, Salvatore F, Fattorusso R, Chesler L, Taylor MD, Cinalli G, Zollo M. | 07/13/2019 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL, Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL., Free PMC Articles: PMC5382943, PMC5382943 | 05/4/2018 |
| These results further delineate a new PRUNE1-related syndrome, and highlight the importance of periodic data re-annotation in individuals who remain without a diagnosis after undergoing genome-wide testing. | Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P. | 10/21/2017 |
| h-Prune expression is necessary for cancer cell motility and EMT and is associated with liver and lung metastasis in colorectal cancer cells. h-Prune could be a new prognostic marker and molecular target for CRLM. | h-Prune is associated with poor prognosis and epithelial-mesenchymal transition in patients with colorectal liver metastases.
Hashimoto M, Kobayashi T, Tashiro H, Arihiro K, Kikuchi A, Ohdan H. | 04/29/2017 |
| Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL, Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL., Free PMC Articles: PMC5382943, PMC5382943 | 04/29/2017 |
| h-prune is frequently expressed in anaplastic thyroid cancer cells and lymph nodes metastasis, and promotes migration and invasion of anaplastic thyroid cancer cells and metastasis in an anaplastic thyroid cancer model. | h-prune affects anaplastic thyroid cancer invasion and metastasis.
Nambu J, Kobayashi T, Hashimoto M, Tashiro H, Sugino K, Shimamoto F, Kikuchi A, Ohdan H. | 03/4/2017 |
| Authors assessed h-Prune levels in peripheral blood of lung cancer patients using ELISA assay, showing that h-Prune is an early diagnostic marker for lung cancer. | H-Prune through GSK-3β interaction sustains canonical WNT/β-catenin signaling enhancing cancer progression in NSCLC.
Carotenuto M, De Antonellis P, Liguori L, Benvenuto G, Magliulo D, Alonzi A, Turino C, Attanasio C, Damiani V, Bello AM, Vitiello F, Pasquinelli R, Terracciano L, Federico A, Fusco A, Freeman J, Dale TC, Decraene C, Chiappetta G, Piantedosi F, Calabrese C, Zollo M., Free PMC Article | 06/6/2015 |
| Data indicate that the D388A and D422A mutant h-Prune proteins interact weakly with Nm23-H1. | Neuroblastoma tumorigenesis is regulated through the Nm23-H1/h-Prune C-terminal interaction.
Carotenuto M, Pedone E, Diana D, de Antonellis P, Džeroski S, Marino N, Navas L, Di Dato V, Scoppettuolo MN, Cimmino F, Correale S, Pirone L, Monti SM, Bruder E, Zenko B, Slavkov I, Pastorino F, Ponzoni M, Schulte JH, Schramm A, Eggert A, Westermann F, Arrigoni G, Accordi B, Basso G, Saviano M, Fattorusso R, Zollo M., Free PMC Article | 08/31/2013 |
| Increased amplification of PRUNE is associated with T4 breast carcinoma. | Molecular alterations in key-regulator genes among patients with T4 breast carcinoma.
Massidda B, Sini M, Budroni M, Atzori F, Deidda M, Pusceddu V, Perra M, Sirigu P, Cossu A, Palomba G, Ionta M, Palmieri G., Free PMC Article | 02/5/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML., Free PMC Article | 11/17/2008 |
| Prune is composed of two independent active sites and two interaction sites for the assembly of oligomeric signalling complexes | Domain mapping on the human metastasis regulator protein h-Prune reveals a C-terminal dimerization domain.
Middelhaufe S, Garzia L, Ohndorf UM, Kachholz B, Zollo M, Steegborn C., Free PMC Article | 01/21/2010 |
| prune has a role in breast neoplasm aggressiveness | Overexpression of h-prune in breast cancer is correlated with advanced disease status.
Zollo M, Andrè A, Cossu A, Sini MC, D'Angelo A, Marino N, Budroni M, Tanda F, Arrigoni G, Palmieri G. | 01/21/2010 |
| GSK-3 and h-prune cooperatively regulate the disassembly of focal adhesions to promote cell migration and that h-prune is useful as a marker for tumor aggressiveness. | Glycogen synthase kinase 3 and h-prune regulate cell migration by modulating focal adhesions.
Kobayashi T, Hino S, Oue N, Asahara T, Zollo M, Yasui W, Kikuchi A., Free PMC Article | 01/21/2010 |