| New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene. | New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Rejeb I, Jerbi M, Jilani H, Gaied H, Elaribi Y, Hizem S, Aoudia R, Hedri H, Zaied C, Abid S, Bacha H, BenAbdallah T, BenJemaa L, Goucha R., Free PMC Article | 08/8/2024 |
| Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family. | Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family.
Császár I, Kalmár T, Maróti Z, Ávéd J, Szederkényi E, Zombori J, Pankotai-Bodó G, Turkevi-Nagy S, Iványi B., Free PMC Article | 07/5/2024 |
| Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. | Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM., Free PMC Article | 04/17/2024 |
| FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. | FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism.
Phadte AS, Bhatia M, Ebert H, Abdullah H, Elrazaq EA, Komolov KE, Pluciennik A., Free PMC Article | 08/9/2023 |
| Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1. | Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.
Airik M, Phua YL, Huynh AB, McCourt BT, Rush BM, Tan RJ, Vockley J, Murray SL, Dorman A, Conlon PJ, Airik R., Free PMC Article | 10/29/2022 |
| Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. | Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE, REGISTRY Investigators of the European Huntington’s disease network, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group, Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH., Free PMC Article | 04/23/2022 |
| New insights on familial colorectal cancer type X syndrome. | New insights on familial colorectal cancer type X syndrome.
Garcia FAO, de Andrade ES, de Campos Reis Galvão H, da Silva Sábato C, Campacci N, de Paula AE, Evangelista AF, Santana IVV, Melendez ME, Reis RM, Palmero EI., Free PMC Article | 03/12/2022 |
| FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease. | FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.
Goold R, Hamilton J, Menneteau T, Flower M, Bunting EL, Aldous SG, Porro A, Vicente JR, Allen ND, Wilkinson H, Bates GP, Sartori AA, Thalassinos K, Balmus G, Tabrizi SJ., Free PMC Article | 02/19/2022 |
| FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability. | FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.
Deshmukh AL, Caron MC, Mohiuddin M, Lanni S, Panigrahi GB, Khan M, Engchuan W, Shum N, Faruqui A, Wang P, Yuen RKC, Nakamori M, Nakatani K, Masson JY, Pearson CE. | 02/19/2022 |
| FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders. | FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL, Porro A, Mohiuddin M, Lanni S, Panigrahi GB, Caron MC, Masson JY, Sartori AA, Pearson CE., Free PMC Article | 11/22/2021 |
| FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair. | FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair.
Kratz K, Artola-Borán M, Kobayashi-Era S, Koh G, Oliveira G, Kobayashi S, Oliveira A, Zou X, Richter J, Tsuda M, Sasanuma H, Takeda S, Loizou JI, Sartori AA, Nik-Zainal S, Jiricny J., Free PMC Article | 09/4/2021 |
| Common variants in FAN1, located in 15q13.3, confer risk for schizophrenia and bipolar disorder in Han Chinese. | Common variants in FAN1, located in 15q13.3, confer risk for schizophrenia and bipolar disorder in Han Chinese.
Jian X, Chen J, Li Z, Fahira A, Shao W, Zhou J, Wang K, Wen Y, Zhang J, Yang Q, Pan D, Wang Z, Shi Y. | 08/28/2021 |
| Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. | Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Mergener R, Furtado GV, de Mattos EP, Leotti VB, Jardim LB, Saraiva-Pereira ML. | 07/24/2021 |
| Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. | Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM., Free PMC Article | 10/24/2020 |
| We show that FAN1 binds to the expanded HTT CAG repeat DNA and its nuclease activity is not required for protection against CAG repeat expansion. These data shed new mechanistic insights into how the genetic modifiers of Huntington's disease (HD) act to alter disease progression and show that FAN1 affects somatic expansion of the CAG repeat through a nuclease-independent mechanism. | FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.
Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ., Free PMC Article | 06/22/2019 |
| The results of our study argue against the implication of pathogenic variants of FAN1 in unexplained cases of suspected genetic predisposition to colorectal polyps/cancer. | Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers.
Fievet A, Mouret-Fourme E, Colas C, de Pauw A, Stoppa-Lyonnet D, Buecher B. | 05/18/2019 |
| hFAN1 homodimerization plays a role in biological processes that involve 5' DNA Flap cleavage. | Importance of homo-dimerization of Fanconi-associated nuclease 1 in DNA flap cleavage.
Rao T, Longerich S, Zhao W, Aihara H, Sung P, Xiong Y., Free PMC Article | 08/18/2018 |
| FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2 | FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2.
Porro A, Berti M, Pizzolato J, Bologna S, Kaden S, Saxer A, Ma Y, Nagasawa K, Sartori AA, Jiricny J., Free PMC Article | 04/21/2018 |
| The structures, function, and proposed mechanisms of FAN1 nuclease are discussed, and the insights into its role in interstrand cross-links repair and in processing of stalled replication forks are provided. [REVIEW] | Structural and functional relationships of FAN1.
Jin H, Cho Y. | 11/18/2017 |
| show that DNA repair genes (fan1 and pms2) significantly modify age at onset in Huntington's Disease and Spinocerebellar Ataxias, suggesting a common pathogenic mechanism, which could operate through the observed somatic expansion of repeats | DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P, SPATAX Network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L., Free PMC Article | 06/10/2017 |
| FAN1 efficiently promoted DNA incision at the proper site of RPA-coated 5'-flapped DNA. Therefore, FAN1 possesses the ability to promote the ICL repair of 5'-flapped DNA covered by RPA. | Human FAN1 promotes strand incision in 5'-flapped DNA complexed with RPA.
Takahashi D, Sato K, Hirayama E, Takata M, Kurumizaka H. | 06/28/2016 |
| EXO1 and FEN1 cleaved the substrate at the boundary between the single-stranded 5' flap and the duplex, whereas FAN1 incised it three to four nucleotides in the double-stranded region. | FANCD2-associated nuclease 1, but not exonuclease 1 or flap endonuclease 1, is able to unhook DNA interstrand cross-links in vitro.
Pizzolato J, Mukherjee S, Schärer OD, Jiricny J., Free PMC Article | 12/5/2015 |
| Detected FAN1 mutations in approximately 3% of families who met the Amsterdam criteria for hereditary colorectal cancer and had mismatch repair-proficient cancers with no previously associated mutations. | Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MÁ, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L. | 11/14/2015 |
| The crystal structures of human FAN1 in complex with a 5' flap DNA substrate show that two FAN1 molecules form a head-to-tail dimer to locate the lesion, orient the DNA, and unwind a 5' flap for subsequent incision. | Structural insights into 5' flap DNA unwinding and incision by the human FAN1 dimer.
Zhao Q, Xue X, Longerich S, Sung P, Xiong Y., Free PMC Article | 11/7/2015 |
| In this work, FAN1-DNA crystal structures and biochemical data reveal that human FAN1 cleaves DNA successively at every third nucleotide | DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.
Wang R, Persky NS, Yoo B, Ouerfelli O, Smogorzewska A, Elledge SJ, Pavletich NP., Free PMC Article | 12/20/2014 |