Detalhe da pesquisa
1.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Am J Hum Genet
; 99(1): 208-16, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374773
2.
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
J Pediatr
; 196: 309-313.e3, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395179
3.
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Hum Mol Genet
; 23(5): 1311-9, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24158852
4.
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Hum Mol Genet
; 23(23): 6356-65, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25008109
5.
Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.
J Inherit Metab Dis
; 39(1): 59-65, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310962
6.
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
PLoS Genet
; 9(12): e1004034, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385928
7.
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Hum Mutat
; 36(1): 34-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339201
8.
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Hum Mol Genet
; 22(4): 656-67, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125284
9.
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
Hum Mol Genet
; 22(15): 3138-51, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575228
10.
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(4): 488-93, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21457908
11.
C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
Nucleic Acids Res
; 40(9): 4040-51, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22238375
12.
Solute diffusion is hindered in the mitochondrial matrix.
Proc Natl Acad Sci U S A
; 108(21): 8657-62, 2011 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21555543
13.
Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.
J Biol Chem
; 287(50): 41851-60, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23038253
14.
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Biochim Biophys Acta
; 1822(2): 168-75, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036843
15.
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.
Biochim Biophys Acta
; 1817(10): 1925-36, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430089
16.
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Brain
; 135(Pt 1): 12-22, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036961
17.
TEFM (c17orf42) is necessary for transcription of human mtDNA.
Nucleic Acids Res
; 39(10): 4284-99, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278163
18.
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
Proteomics
; 12(9): 1349-62, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589185
19.
Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits.
Biochim Biophys Acta
; 1807(12): 1624-33, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21978538
20.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Am J Hum Genet
; 84(6): 718-27, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19463981