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1.
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet
; 31(24): 4121-4130, 2022 12 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35913762
2.
Intravenous infusion of iPSC-derived neural precursor cells increases acid ß-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
Hum Mol Genet
; 28(20): 3406-3421, 2019 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31373366
3.
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.
Hum Mol Genet
; 26(19): 3776-3791, 2017 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28934388
4.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29040572
5.
[Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with ß -thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(11): 1130-1132, 2019 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31703143
6.
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
J Biol Chem
; 292(7): 2881-2892, 2017 02 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-28049726
7.
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Hum Mol Genet
; 25(23): 5126-5141, 2016 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27655403
8.
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Hum Mol Genet
; 25(3): 584-96, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26647310
9.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet
; 63(12): 1211-1222, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30250212
10.
A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.
Nucleic Acids Res
; 44(22): 10974-10985, 2016 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27536005
11.
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Hum Mol Genet
; 24(24): 7031-48, 2015 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26420838
12.
MyD88 NEDDylation negatively regulates MyD88-dependent NF-κB signaling through antagonizing its ubiquitination.
Biochem Biophys Res Commun
; 482(4): 632-637, 2017 Jan 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-27864145
13.
HSCARG negatively regulates the cellular antiviral RIG-I like receptor signaling pathway by inhibiting TRAF3 ubiquitination via recruiting OTUB1.
PLoS Pathog
; 10(4): e1004041, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24763515
14.
A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.
Nucleic Acids Res
; 42(12): 8039-48, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24920829
15.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 27(12): 2224, 2018 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29554255
16.
A CRM1-dependent nuclear export signal controls nucleocytoplasmic translocation of HSCARG, which regulates NF-κB activity.
Traffic
; 13(6): 790-9, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22348310
17.
The complete mitochondrial genome of the rodent flea Nosopsyllus laeviceps: genome description, comparative analysis, and phylogenetic implications.
Parasit Vectors
; 17(1): 253, 2024 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38863074
18.
Correction to: Gamma-band-based dynamic functional connectivity in pigeon entopallium during sample presentation in a delayed color matching task.
Cogn Neurodyn
; 18(1): 299, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38406192
19.
Gamma-band-based dynamic functional connectivity in pigeon entopallium during sample presentation in a delayed color matching task.
Cogn Neurodyn
; 18(1): 37-47, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38406198
20.
Bacteriostasis and cleaning effect of trace ozone replacing personal care products.
Environ Technol
; 44(17): 2617-2630, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35099355