151 related articles for article (PubMed ID: 15975579)
21. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T; Wang J; Ross D; Balanda N; Huang Y; Godfrey R; Groden C; Barton BR; Gahl W; Toro C; Malicdan MCV
Mol Genet Metab; 2020; 131(1-2):98-106. PubMed ID: 33097395
[TBL] [Abstract][Full Text] [Related]
22. Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4
Yin Z; Agip AA; Bridges HR; Hirst J
EMBO J; 2024 Jan; 43(2):225-249. PubMed ID: 38177503
[TBL] [Abstract][Full Text] [Related]
23. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Hoefs SJ; van Spronsen FJ; Lenssen EW; Nijtmans LG; Rodenburg RJ; Smeitink JA; van den Heuvel LP
Eur J Hum Genet; 2011 Mar; 19(3):270-4. PubMed ID: 21150889
[TBL] [Abstract][Full Text] [Related]
24. Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms.
Fang Y; Bateman JF; Mercer JF; Lamandé SR
J Cell Sci; 2013 Jun; 126(Pt 12):2551-60. PubMed ID: 23729740
[TBL] [Abstract][Full Text] [Related]
25. The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.
Harries LW; Bingham C; Bellanne-Chantelot C; Hattersley AT; Ellard S
Hum Genet; 2005 Nov; 118(2):214-24. PubMed ID: 16133182
[TBL] [Abstract][Full Text] [Related]
26. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
Caputi M; Kendzior RJ; Beemon KL
Genes Dev; 2002 Jul; 16(14):1754-9. PubMed ID: 12130535
[TBL] [Abstract][Full Text] [Related]
27. Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.
Vaz-Drago R; Pinheiro MT; Martins S; Enguita FJ; Carmo-Fonseca M; Custódio N
Hum Mol Genet; 2015 May; 24(10):2784-95. PubMed ID: 25652404
[TBL] [Abstract][Full Text] [Related]
28. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Ostergaard E; Rodenburg RJ; van den Brand M; Thomsen LL; Duno M; Batbayli M; Wibrand F; Nijtmans L
J Med Genet; 2011 Nov; 48(11):737-40. PubMed ID: 21617257
[TBL] [Abstract][Full Text] [Related]
29. [Nonsense-mediated mRNA decay (NMD)--on guard of mRNA quality].
Dzikiewicz A; Szweykowska-Kulińska Z
Postepy Biochem; 2006; 52(4):390-8. PubMed ID: 17536508
[TBL] [Abstract][Full Text] [Related]
30. Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
Grandemange S; Soler S; Touitou I
Hum Mol Genet; 2009 Dec; 18(24):4746-55. PubMed ID: 19755381
[TBL] [Abstract][Full Text] [Related]
31. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
Petruzzella V; Papa S
Gene; 2002 Mar; 286(1):149-54. PubMed ID: 11943471
[TBL] [Abstract][Full Text] [Related]
32. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J; Smeitink J; Triepels R; Smeets R; Schuelke M; Sengers R; Trijbels F; Hamel B; Mullaart R; van den Heuvel L
Am J Hum Genet; 1998 Dec; 63(6):1598-608. PubMed ID: 9837812
[TBL] [Abstract][Full Text] [Related]
33. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Bénit P; Chretien D; Kadhom N; de Lonlay-Debeney P; Cormier-Daire V; Cabral A; Peudenier S; Rustin P; Munnich A; Rötig A
Am J Hum Genet; 2001 Jun; 68(6):1344-52. PubMed ID: 11349233
[TBL] [Abstract][Full Text] [Related]
34. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
[TBL] [Abstract][Full Text] [Related]
35. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort M; Chabás A; Vilageliu L; Grinberg D
Blood Cells Mol Dis; 2006; 36(1):46-52. PubMed ID: 16326120
[TBL] [Abstract][Full Text] [Related]
36. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C
Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374
[TBL] [Abstract][Full Text] [Related]
37. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
Assereto S; Robbiano A; Di Rocco M; Rossi A; Cassandrini D; Panicucci C; Brigati G; Biancheri R; Bruno C; Minetti C; Trucks H; Sander T; Zara F; Gazzerro E
Clin Genet; 2014 Jul; 86(1):99-101. PubMed ID: 24020637
[No Abstract] [Full Text] [Related]
38. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
Denecke J; Kranz C; Kemming D; Koch HG; Marquardt T
Hum Mutat; 2004 May; 23(5):477-86. PubMed ID: 15108280
[TBL] [Abstract][Full Text] [Related]
39. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells.
Lejeune F; Maquat LE
Curr Opin Cell Biol; 2005 Jun; 17(3):309-15. PubMed ID: 15901502
[TBL] [Abstract][Full Text] [Related]
40. A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Lebon S; Minai L; Chretien D; Corcos J; Serre V; Kadhom N; Steffann J; Pauchard JY; Munnich A; Bonnefont JP; Rötig A
Mol Genet Metab; 2007; 92(1-2):104-8. PubMed ID: 17604671
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
