Detalhe da pesquisa
1.
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
2.
Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
Mol Cell
; 63(4): 608-620, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499294
3.
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
Mol Cell
; 57(1): 83-94, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25498144
4.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
5.
Quantification of mitochondrial acetylation dynamics highlights prominent sites of metabolic regulation.
J Biol Chem
; 288(36): 26209-26219, 2013 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23864654
6.
Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening.
Biomark Res
; 11(1): 97, 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957758
7.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196587
8.
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.
iScience
; 24(12): 103460, 2021 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888501
9.
Systems Biochemistry Approaches to Defining Mitochondrial Protein Function.
Cell Metab
; 31(4): 669-678, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268114
10.
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Circ Genom Precis Med
; 16(1): e003792, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716194
11.
Correction: Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening.
Biomark Res
; 11(1): 101, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993911
12.
SORCS1 is necessary for normal insulin secretory granule biogenesis in metabolically stressed ß cells.
J Clin Invest
; 124(10): 4240-56, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25157818