Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
about
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseMitochondriaAssembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site hemeAnalysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Diverse cytopathologies in mitochondrial disease are caused by AMP-activated protein kinase signaling.Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice.The role of mitochondrial DNA copy number in mammalian fertility.A mild impairment of mitochondrial electron transport has sex-specific effects on lifespan and aging in mice.Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.The respiratory chain supercomplex organization is independent of COX7a2l isoforms.Collaboration between mitochondria and the nucleus is key to long life in Caenorhabditis elegans.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in DrosophilaModeling human mitochondrial diseases in flies.Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS proteinMouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.Mouse models of oxidative phosphorylation dysfunction and diseaseGrape Powder Improves Age-Related Decline in Mitochondrial and Kidney Functions in Fischer 344 RatsThe pathophysiology of mitochondrial disease as modeled in the mouse.NDUFS4: creation of a mouse model mimicking a Complex I disorder.New Olig1 null mice confirm a non-essential role for Olig1 in oligodendrocyte developmentDevelopment of pharmacological strategies for mitochondrial disorders.Towards an understanding of the molecular mechanism of endometriosis: unbalancing epithelial-stromal genetic conflict.A mitocentric view of Parkinson's disease.Mutations causing mitochondrial disease: What is new and what challenges remain?Loss of LRPPRC causes ATP synthase deficiencyLeigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencingDynamic comparisons of high-resolution expression profiles highlighting mitochondria-related genes between in vivo and in vitro fertilized early mouse embryos.A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.Quantitative proteomic study of myocardial mitochondria in urea transporter B knockout mice.A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.
P2860
Q24299371-0DE3C8D2-D312-49EB-8576-6D7908922C72Q24648969-A5C24105-B135-4E3D-851E-CE1406F50A64Q24671804-C6A5E39D-39C3-4A19-BC9C-E70F54C9E047Q28239483-69DFEC34-90D3-450B-8DB5-E8AAF0FA5C16Q28589741-FA0E7BED-FAC2-4041-847A-E295669A168DQ30479313-42C8BE38-A3B1-4CDC-8AD9-A62451C7A526Q33709353-846A6039-54FD-48D0-8E47-CA832838F6B1Q33926626-ADD0F2D5-DD1A-47B9-A6C0-C68ED8C99B8EQ34058380-6C0F7358-D93A-47FE-8950-470CF718A032Q34587197-E1FD5646-A782-4670-B62C-6B663561273EQ34664166-38466585-59E2-4660-862F-CD9E0100BE66Q34791301-C593CD34-DDCB-4871-9541-AF3830F29A73Q35190973-6B4D861E-D95A-4BA7-A3B5-B03602A6D415Q35846393-CBA7CDC2-86E1-4D20-AD48-C7C16F643F2BQ36522081-03516D5D-23D7-4248-92D2-303A23C584DCQ36727229-525DB044-2C2B-4F26-AAA4-DD179336D4FDQ37120797-5F30E486-BB9E-49B3-A561-51F639E0EE21Q37120825-54774898-92B5-4075-AC3D-78DB87E8305CQ37162859-A25D2304-D391-4375-9C55-0EDF8D6E392BQ37287583-7485526D-2045-4B21-9DE8-060E361F5E0FQ37440629-392EB1AB-B718-4AA4-B7F1-84BBF8C7A41FQ37525408-8481FC88-7177-4253-A3F1-EEFC0699413EQ37686237-1DF50616-9004-4861-B10C-B575BF53955DQ38133821-B5FA245B-9C28-4CE9-BDDC-6B231AB44FABQ38211382-C3DAAEFD-F3E0-4FED-9A7D-89EBB9AC1B68Q38592664-DE5FEF56-8FA5-414E-8512-0616F7208C3BQ38806341-01C0EFD6-11E8-48ED-94BD-9126BBA8748EQ38962266-F2B86F29-B77D-4CB3-AAFA-AEAE02C11F91Q40523314-6896D222-FD40-4D04-9078-9082B2A01E2DQ41769415-6091AF8A-0927-4E72-89B4-4E9055C062ECQ47074213-B72B0441-69AE-4643-B1EB-F90FBE3C1598Q50752065-01204FCE-4466-4EE9-A582-BE4B26FAE43BQ51709308-9C49E85B-360C-4E81-9DBD-982C8E23B491Q52320281-7E51D25F-3609-4A51-9AE4-6A05BEC66F66
P2860
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
description
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2003
@ast
im Februar 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/02/15)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/02/15)
@nl
наукова стаття, опублікована в лютому 2003
@uk
مقالة علمية (نشرت في 15-2-2003)
@ar
name
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@ast
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@en
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@nl
type
label
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@ast
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@en
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@nl
prefLabel
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@ast
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@en
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@nl
P2093
P50
P3181
P1476
Constitutive knockout of Surf1 ...... e c oxidase deficiency in mice
@en
P2093
Alessandro Agostino
Alessio Giavazzi
Cecilia Tiveron
Giorgio Battaglia
Laura Tatangelo
P304
P3181
P356
10.1093/HMG/12.4.399
10.1093/HMG/DDG038
P50
P577
2003-02-15T00:00:00Z