Detalhe da pesquisa
1.
Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives.
Int J Mol Sci
; 24(3)2023 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768312
2.
Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
Int J Mol Sci
; 24(6)2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983025
3.
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Neurogenetics
; 22(4): 347-351, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387792
4.
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
J Hum Genet
; 66(8): 835-840, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33612823
5.
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Hum Mutat
; 41(10): 1745-1750, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652806
6.
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
Int J Mol Sci
; 21(24)2020 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352696
7.
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Int J Mol Sci
; 21(10)2020 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32456086
8.
Inborn errors of coenzyme A metabolism and neurodegeneration.
J Inherit Metab Dis
; 42(1): 49-56, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740736
9.
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Hum Mutat
; 39(4): 563-578, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314548
10.
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
Brain
; 139(Pt 4): 1045-51, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917598
11.
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
Mol Ther
; 22(1): 10-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24247928
12.
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.
Mol Ther
; 22(5): 901-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24448160
13.
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Ann Clin Transl Neurol
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750253
14.
PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.
Pharmaceutics
; 15(1)2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36678831
15.
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Pharmaceutics
; 15(1)2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36678896
16.
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
J Inherit Metab Dis
; 35(3): 451-8, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22020834
17.
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.
J Vis Exp
; (181)2022 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35343952
18.
PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation.
Front Cell Neurosci
; 16: 878103, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783094
19.
Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.
Pharmaceutics
; 14(6)2022 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35745859
20.
Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
Cell Death Dis
; 13(2): 185, 2022 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217637