Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Hum Mol Genet
; 31(12): 2049-2062, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35024855
3.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
4.
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Nucleic Acids Res
; 50(15): 8749-8766, 2022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947649
5.
Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits.
Mol Cell Proteomics
; 20: 100065, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640490
6.
Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly.
Nucleic Acids Res
; 49(1): 354-370, 2021 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33283228
7.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
PLoS Genet
; 15(7): e1008240, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365523
8.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502047
9.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827528
10.
Metabolic regulation of neurodifferentiation in the adult brain.
Cell Mol Life Sci
; 77(13): 2483-2496, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912194
11.
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
Nucleic Acids Res
; 47(17): 9386-9399, 2019 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396629
12.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum Mol Genet
; 26(13): 2515-2525, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430993
13.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
14.
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.
PLoS Genet
; 12(5): e1006028, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27176048
15.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
16.
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
Hum Mol Genet
; 24(23): 6580-7, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26374844
17.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Am J Hum Genet
; 95(3): 285-93, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25152457
18.
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Mol Genet Metab
; 121(3): 216-223, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552678
19.
SUV3 helicase is required for correct processing of mitochondrial transcripts.
Nucleic Acids Res
; 43(15): 7398-413, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26152302
20.
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
EMBO J
; 31(2): 443-56, 2012 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22045337