Detalhe da pesquisa
1.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
J Med Genet
; 60(10): 1006-1015, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37055166
2.
Drugs Repurposed as Antiferroptosis Agents Suppress Organ Damage, Including AKI, by Functioning as Lipid Peroxyl Radical Scavengers.
J Am Soc Nephrol
; 31(2): 280-296, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31767624
3.
The guanylate cyclase C agonist linaclotide ameliorates the gut-cardio-renal axis in an adenine-induced mouse model of chronic kidney disease.
Nephrol Dial Transplant
; 35(2): 250-264, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31411705
4.
Mitochonic Acid 5 Binds Mitochondria and Ameliorates Renal Tubular and Cardiac Myocyte Damage.
J Am Soc Nephrol
; 27(7): 1925-32, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26609120
5.
Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases.
Tohoku J Exp Med
; 236(3): 225-32, 2015 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26118651
6.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Sci Rep
; 13(1): 22005, 2023 12 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38086984
7.
Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
Pediatr Transplant
; 16(2): E63-70, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21834803
8.
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Orphanet J Rare Dis
; 17(1): 78, 2022 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35197081
9.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Mitochondrion
; 63: 1-8, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34933128
10.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed
; 107(3): 329-334, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34625524
11.
SGLT-1-specific inhibition ameliorates renal failure and alters the gut microbial community in mice with adenine-induced renal failure.
Physiol Rep
; 9(24): e15092, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34921520
12.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Int J Cardiol
; 341: 48-55, 2021 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34298071
13.
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Mol Genet Metab Rep
; 24: 100622, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32670798
14.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
CEN Case Rep
; 9(3): 210-214, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32128695
15.
Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5.
PLoS One
; 15(12): e0231064, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33264289
16.
Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.
Mitochondrion
; 49: 111-120, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31356884
17.
Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease.
Nat Commun
; 10(1): 1835, 2019 04 23.
Artigo
Inglês
| MEDLINE | ID: mdl-31015435
18.
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation.
Nephron
; 138(3): 243-248, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29190634
19.
A novel indole compound MA-35 attenuates renal fibrosis by inhibiting both TNF-α and TGF-ß1 pathways.
Sci Rep
; 7(1): 1884, 2017 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28507324
20.
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.
EBioMedicine
; 20: 27-38, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28579242