Detalhe da pesquisa
1.
AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.
EMBO J
; 41(17): e110784, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35859387
2.
Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome.
EMBO J
; 40(21): e108648, 2021 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34542926
3.
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.
Mol Cell
; 64(1): 148-162, 2016 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27642048
4.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35104841
5.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet
; 102(4): 685-695, 2018 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29576219
6.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1705-1714, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34140661
7.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28065471
8.
COmplexome Profiling ALignment (COPAL) reveals remodeling of mitochondrial protein complexes in Barth syndrome.
Bioinformatics
; 35(17): 3083-3091, 2019 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30649188
9.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
J Inherit Metab Dis
; 43(6): 1382-1391, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32418222
10.
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Hum Mol Genet
; 26(13): 2541-2550, 2017 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28449065
11.
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
Inglês
| MEDLINE | ID: mdl-27374773
12.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 107(2): 374, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32763190
13.
Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I.
Proc Natl Acad Sci U S A
; 112(18): 5685-90, 2015 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25902503
14.
Identification and evolutionary analysis of tissue-specific isoforms of mitochondrial complex I subunit NDUFV3.
Biochim Biophys Acta Bioenerg
; 1858(3): 208-217, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27988283
15.
Unraveling the complexity of mitochondrial complex I assembly: A dynamic process.
Biochim Biophys Acta
; 1857(7): 980-90, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27040506
16.
Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex.
Biochim Biophys Acta
; 1863(1): 91-101, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26477565
17.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1789, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34302123
18.
The branched mitochondrial respiratory chain from Debaryomyces hansenii: components and supramolecular organization.
Biochim Biophys Acta
; 1837(1): 73-84, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23933018
19.
The Saccharomyces cerevisiae mitochondrial unselective channel behaves as a physiological uncoupling system regulated by Ca2+, Mg2+, phosphate and ATP.
J Bioenerg Biomembr
; 47(6): 477-91, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26530988
20.
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
medRxiv
; 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38562757