149 related articles for article (PubMed ID: 29497141)
1. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
Scalet D; Sacchetto C; Bernardi F; Pinotti M; van de Graaf SFJ; Balestra D
J Hum Genet; 2018 May; 63(5):683-686. PubMed ID: 29497141
[TBL] [Abstract][Full Text] [Related]
2. A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
Balestra D; Scalet D; Ferrarese M; Lombardi S; Ziliotto N; C Croes C; Petersen N; Bosma P; Riccardi F; Pagani F; Pinotti M; van de Graaf SFJ
Int J Mol Sci; 2020 Mar; 21(6):. PubMed ID: 32244944
[TBL] [Abstract][Full Text] [Related]
3. Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Bliksrud YT; Brodtkorb E; Andresen PA; van den Berg IE; Kvittingen EA
J Mol Med (Berl); 2005 May; 83(5):406-10. PubMed ID: 15759101
[TBL] [Abstract][Full Text] [Related]
4. An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
Balestra D; Maestri I; Branchini A; Ferrarese M; Bernardi F; Pinotti M
Front Genet; 2019; 10():974. PubMed ID: 31649737
[TBL] [Abstract][Full Text] [Related]
5. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
Ijaz S; Zahoor MY; Imran M; Afzal S; Bhinder MA; Ullah I; Cheema HA; Ramzan K; Shehzad W
J Pediatr Endocrinol Metab; 2016 Mar; 29(3):327-32. PubMed ID: 26565546
[TBL] [Abstract][Full Text] [Related]
6. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
Aponte JL; Sega GA; Hauser LJ; Dhar MS; Withrow CM; Carpenter DA; Rinchik EM; Culiat CT; Johnson DK
Proc Natl Acad Sci U S A; 2001 Jan; 98(2):641-5. PubMed ID: 11209059
[TBL] [Abstract][Full Text] [Related]
7. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
Dreumont N; Poudrier JA; Bergeron A; Levy HL; Baklouti F; Tanguay RM
BMC Genet; 2001; 2():9. PubMed ID: 11476670
[TBL] [Abstract][Full Text] [Related]
8. Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.
Balestra D; Barbon E; Scalet D; Cavallari N; Perrone D; Zanibellato S; Bernardi F; Pinotti M
Hum Mol Genet; 2015 Sep; 24(17):4809-16. PubMed ID: 26063760
[TBL] [Abstract][Full Text] [Related]
9. Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D; Balestra D; Rohban S; Bovolenta M; Perrone D; Bernardi F; Campaner S; Pinotti M
Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):15-20. PubMed ID: 27639833
[TBL] [Abstract][Full Text] [Related]
10. Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
Haghighi-Kakhki H; Rezazadeh J; Ahmadi-Shadmehri A
J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):795-8. PubMed ID: 24756054
[TBL] [Abstract][Full Text] [Related]
11. OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf
Sacchetto C; Peretto L; Baralle F; Maestri I; Tassi F; Bernardi F; van de Graaf SFJ; Pagani F; Pinotti M; Balestra D
Mol Med; 2021 Dec; 27(1):157. PubMed ID: 34906067
[TBL] [Abstract][Full Text] [Related]
12. Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I; Fernández-Lainez C; Alcántara-Ortigoza MA; González-Del Angel A; Fernández-Henández L; Guillén-López S; Belmont-Martínez L; López-Mejía L; Varela-Fascinetto G; Vela-Amieva M
Mol Genet Genomic Med; 2019 Dec; 7(12):e937. PubMed ID: 31568711
[TBL] [Abstract][Full Text] [Related]
13. Fumarylacetoacetase mutations in tyrosinaemia type I.
Rootwelt H; Høie K; Berger R; Kvittingen EA
Hum Mutat; 1996; 7(3):239-43. PubMed ID: 8829657
[TBL] [Abstract][Full Text] [Related]
14. Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G; Angileri F; Tanguay RM
Adv Exp Med Biol; 2017; 959():25-48. PubMed ID: 28755182
[TBL] [Abstract][Full Text] [Related]
15. Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
Morrow G; Dreumont N; Bourrelle-Langlois M; Roy V; Tanguay RM
Mol Genet Metab; 2019 May; 127(1):58-63. PubMed ID: 30954369
[TBL] [Abstract][Full Text] [Related]
16. Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.
Scalet D; Maestri I; Branchini A; Bernardi F; Pinotti M; Balestra D
Hum Mutat; 2019 Jan; 40(1):48-52. PubMed ID: 30408273
[TBL] [Abstract][Full Text] [Related]
17. Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
Bliksrud YT; Brodtkorb E; Backe PH; Woldseth B; Rootwelt H
Scand J Clin Lab Invest; 2012 Sep; 72(5):369-73. PubMed ID: 22554029
[TBL] [Abstract][Full Text] [Related]
18. Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
Demers SI; Russo P; Lettre F; Tanguay RM
Hum Pathol; 2003 Dec; 34(12):1313-20. PubMed ID: 14691918
[TBL] [Abstract][Full Text] [Related]
19. Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
Balestra D; Giorgio D; Bizzotto M; Fazzari M; Ben Zeev B; Pinotti M; Landsberger N; Frasca A
Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31450582
[TBL] [Abstract][Full Text] [Related]
20. Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Sánchez-Alcudia R; Pérez B; Pérez-Cerdá C; Ugarte M; Desviat LR
Mol Genet Metab; 2011 Feb; 102(2):134-8. PubMed ID: 21094621
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
