Detalhe da pesquisa
1.
Coordinating mitochondrial translation with assembly of the OXPHOS complexes.
Hum Mol Genet
; 33(R1): R47-R52, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38779773
2.
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.
PLoS Genet
; 19(1): e1010573, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608143
3.
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Mol Cell
; 63(4): 621-632, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499296
4.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245030
5.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
6.
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.
J Inherit Metab Dis
; 43(1): 25-35, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119744
7.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
8.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am J Hum Genet
; 98(2): 358-62, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805782
9.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am J Hum Genet
; 99(4): 894-902, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616477
10.
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
11.
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet
; 99(3): 674-682, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523597
12.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Am J Hum Genet
; 97(2): 319-28, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189817
13.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778
14.
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
J Inherit Metab Dis
; 41(3): 525-532, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29372369
15.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Brain
; 139(Pt 2): 346-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626369
16.
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
J Hepatol
; 65(2): 377-85, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151179
17.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Am J Hum Genet
; 93(5): 906-14, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119684
18.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993194
19.
Mitochondrial phosphoproteomes are functionally specialized across tissues.
Life Sci Alliance
; 7(2)2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984987
20.
Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity.
Nat Metab
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689023