Detalhe da pesquisa
1.
NDP52 acts as a redox sensor in PINK1/Parkin-mediated mitophagy.
EMBO J
; 42(5): e111372, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36514953
2.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
3.
Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.
Nature
; 563(7730): 235-240, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356213
4.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004446
5.
The complex machinery of human cobalamin metabolism.
J Inherit Metab Dis
; 46(3): 406-420, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680553
6.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
7.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
8.
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Blood
; 131(9): 1000-1011, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29187380
9.
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Am J Med Genet A
; 182(11): 2685-2693, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808436
10.
Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
J Biol Chem
; 293(33): 12862-12876, 2018 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880640
11.
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Kidney Int
; 95(5): 1138-1152, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30885509
12.
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
J Inherit Metab Dis
; 42(3): 565-574, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663059
13.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177572
14.
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Hum Mol Genet
; 25(11): 2234-2244, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005423
15.
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
Biochem J
; 474(20): 3403-3420, 2017 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827282
16.
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Hum Mutat
; 38(8): 988-1001, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497574
17.
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Hum Mutat
; 38(11): 1555-1568, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752568
18.
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Hum Mol Genet
; 24(20): 5667-76, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26199317
19.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3294-3302, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888424
20.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Brain
; 139(11): 2844-2854, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604308