Detalhe da pesquisa
1.
BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
Nucleic Acids Res
; 51(21): 11797-11812, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823603
2.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Brain
; 145(4): 1519-1534, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788392
3.
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.
Hum Mol Genet
; 27(1): 178-189, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121267
4.
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Hum Mol Genet
; 24(10): 2841-7, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652405
5.
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Hum Mutat
; 37(9): 976-82, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27349184
6.
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Am J Hum Genet
; 91(4): 737-43, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022098
7.
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Am J Hum Genet
; 89(4): 486-95, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21944046
8.
Interferon ß induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
Brain
; 136(Pt 6): 1732-45, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23518714
9.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
Life Sci Alliance
; 7(1)2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931956
10.
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Mol Genet Metab
; 108(2): 112-8, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23270877
11.
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Life Sci Alliance
; 6(6)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977595
12.
Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response.
Dev Neurobiol
; 83(1-2): 54-69, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799027
13.
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
Hum Mol Genet
; 19(1): 181-95, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19843541
14.
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.
J Cell Biol
; 174(1): 65-76, 2006 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-16818720
15.
A High-Density Human Mitochondrial Proximity Interaction Network.
Cell Metab
; 32(3): 479-497.e9, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877691
16.
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
EMBO Mol Med
; 8(9): 1019-38, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27390132
17.
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Eur J Hum Genet
; 23(10): 1301-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604853