Detalhe da pesquisa
1.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
2.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
3.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740920
4.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
5.
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Neurogenetics
; 20(1): 9-25, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607703
6.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
7.
Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.
FASEB J
; 30(6): 2236-48, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26929434
8.
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Hum Mol Genet
; 22(22): 4460-73, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23814038
9.
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.
Hum Mutat
; 35(12): 1476-84, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219341
10.
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Am J Hum Genet
; 87(1): 52-9, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598274
11.
MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly.
J Mol Biol
; 434(2): 167361, 2022 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34808225
12.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Mol Genet Metab Rep
; 33: 100912, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061954
13.
Loss of the Mitochondrial Fatty Acid ß-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function.
Sci Rep
; 8(1): 153, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29317722
14.
Anti-cancer analogues ME-143 and ME-344 exert toxicity by directly inhibiting mitochondrial NADH: ubiquinone oxidoreductase (Complex I).
Am J Cancer Res
; 5(2): 689-701, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25973307
15.
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
J Genet Genomics
; 47(10): 650-654, 2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386251
16.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Sci Transl Med
; 4(118): 118ra10, 2012 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22277967