Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 NDUFS4: creation of a mouse model mimicking a Complex I disorder.

Literature DB >> 19460290

NDUFS4: creation of a mouse model mimicking a Complex I disorder.

Christopher A Ingraham¹, Lindsay S Burwell, Jolanta Skalska, Paul S Brookes, Robert L Howell, Shey-Shing Sheu, Carl A Pinkert.

Abstract

The Complex I NADH dehydrogenase-ubiquinone-FeS 4 (NDUFS4) subunit gene is involved in proper Complex I function such that the loss of NDUFS4 decreases Complex I activity resulting in mitochondrial disease. Therefore, a mouse model harboring a point mutation in the NDUFS4 gene was created. An embryonic lethal phenotype was observed in homozygous (NDUFS4(-/-)) mutant fetuses. Mitochondrial function was impaired in heterozygous animals based on oxygen consumption, and Complex I activity in NDUFS4 mouse mitochondria. Decreased Complex I activity with unaltered Complex II activity, along with an accumulation of lactate, were consistent with Complex I disorders in this mouse model.

Entities: CellLine Chemical Disease Gene Species

Mesh：

Substances：

Year: 2009 PMID： 19460290 PMCID： PMC2783808 DOI： 10.1016/j.mito.2009.02.001

Source DB: PubMed Journal: Mitochondrion ISSN： 1567-7249 Impact factor: 4.160

22 in total

Review 1. Transgenic animal technology: alternatives in genotyping and phenotyping.

Authors: Carl A Pinkert
Journal: Comp Med Date: 2003-04 Impact factor: 0.982

2. Promoter interactions in retrovirus vectors introduced into fibroblasts and embryonic stem cells.

Authors: P Soriano; G Friedrich; P Lawinger
Journal: J Virol Date: 1991-05 Impact factor: 5.103

Review 3. Regulation of mitochondrial proliferation in the heart: power-plant failure contributes to cardiac failure in hypertrophy.

Authors: Steffi Goffart; Jürgen-Christoph von Kleist-Retzow; Rudolf J Wiesner
Journal: Cardiovasc Res Date: 2004-11-01 Impact factor: 10.787

4. Transgenesis in creatures great and small Transgenic Animal Technology. A Laboratory Handbook Edited by Carl A. Pinkert San Diego: Academic Press, Inc. (1994). 364 pp.

Authors: F A Simmen
Journal: Theriogenology Date: 1994-08-01 Impact factor: 2.740

5. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Authors: L van den Heuvel; W Ruitenbeek; R Smeets; Z Gelman-Kohan; O Elpeleg; J Loeffen; F Trijbels; E Mariman; D de Bruijn; J Smeitink
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

6. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Authors: V Petruzzella; R Vergari; I Puzziferri; D Boffoli; E Lamantea; M Zeviani; S Papa
Journal: Hum Mol Genet Date: 2001-03-01 Impact factor: 6.150

7. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.

Authors: S Pitkanen; B H Robinson
Journal: J Clin Invest Date: 1996-07-15 Impact factor: 14.808

8. Mouse embryo yield and viability after euthanasia by CO2 inhalation or cervical dislocation.

Authors: Robert L Howell; Catherine L Donegan; Carl A Pinkert
Journal: Comp Med Date: 2003-10 Impact factor: 0.982

Review 9. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Authors: Vincent Procaccio; Douglas C Wallace
Journal: Neurology Date: 2004-05-25 Impact factor: 9.910

10. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

Authors: Arcangela Iuso; Salvatore Scacco; Claudia Piccoli; Francesco Bellomo; Vittoria Petruzzella; Raffaella Trentadue; Michele Minuto; Maria Ripoli; Nazzareno Capitanio; Massimo Zeviani; Sergio Papa
Journal: J Biol Chem Date: 2006-02-13 Impact factor: 5.157

30 in total

Review 1. Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.

Authors: Alessandra Torraco; Susana Peralta; Luisa Iommarini; Francisca Diaz
Journal: Mitochondrion Date: 2015-02-04 Impact factor: 4.160

2. Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.

Authors: Dillon W Leong; Jasper C Komen; Chelsee A Hewitt; Estelle Arnaud; Matthew McKenzie; Belinda Phipson; Melanie Bahlo; Adrienne Laskowski; Sarah A Kinkel; Gayle M Davey; William R Heath; Anne K Voss; René P Zahedi; James J Pitt; Roman Chrast; Albert Sickmann; Michael T Ryan; Gordon K Smyth; David R Thorburn; Hamish S Scott
Journal: J Biol Chem Date: 2012-04-25 Impact factor: 5.157

Review 3. Cytoprotection by the modulation of mitochondrial electron transport chain: the emerging role of mitochondrial STAT3.

Authors: Karol Szczepanek; Qun Chen; Andrew C Larner; Edward J Lesnefsky
Journal: Mitochondrion Date: 2011-09-10 Impact factor: 4.160

4. D-galactose effectiveness in modeling aging and therapeutic antioxidant treatment in mice.

Authors: Kodeeswaran Parameshwaran; Michael H Irwin; Kosta Steliou; Carl A Pinkert
Journal: Rejuvenation Res Date: 2011-01-04 Impact factor: 4.663

5. The permeability transition pore controls cardiac mitochondrial maturation and myocyte differentiation.

Authors: Jennifer R Hom; Rodrigo A Quintanilla; David L Hoffman; Karen L de Mesy Bentley; Jeffery D Molkentin; Shey-Shing Sheu; George A Porter
Journal: Dev Cell Date: 2011-09-13 Impact factor: 12.270

6. Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.

Authors: Susana Peralta; Alessandra Torraco; Tina Wenz; Sofia Garcia; Francisca Diaz; Carlos T Moraes
Journal: Hum Mol Genet Date: 2013-10-23 Impact factor: 6.150