Detalhe da pesquisa
1.
Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes.
EMBO J
; 39(14): e103912, 2020 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511785
2.
Targeting the TWEAK-Fn14 pathway prevents dysfunction in cardiac calcium handling after acute kidney injury.
J Pathol
; 261(4): 427-441, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776271
3.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Int J Mol Sci
; 24(2)2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675256
4.
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
Int J Mol Sci
; 23(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563042
5.
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Int J Mol Sci
; 23(22)2022 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430443
6.
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
Int J Mol Sci
; 22(11)2021 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070501
7.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011114
8.
The Addiction-Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural Precursors.
Cereb Cortex
; 27(5): 2809-2819, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166167
9.
Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression.
J Biol Chem
; 291(50): 25877-25887, 2016 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789713
10.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Genet Med
; 18(11): 1128-1135, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913921
11.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Hum Mutat
; 34(12): 1623-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105702
12.
Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.
Circ J
; 77(11): 2799-806, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23965802
13.
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.
Biomedicines
; 11(9)2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37760875
14.
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
J Neurol Neurosurg Psychiatry
; 83(3): 322-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22250184
15.
Melatonin improves mitochondrial respiratory chain activity and liver morphology in ob/ob mice.
J Pineal Res
; 51(1): 113-23, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21355880
16.
TFAM-deficient mouse skin fibroblasts - an ex vivo model of mitochondrial dysfunction.
Dis Model Mech
; 14(8)2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312668
17.
Tumor-Stromal Interactions in a Co-Culture Model of Human Pancreatic Adenocarcinoma Cells and Fibroblasts and Their Connection with Tumor Spread.
Biomedicines
; 9(4)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807441
18.
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.
Genes (Basel)
; 11(8)2020 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32722639
19.
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
Hum Mutat
; 29(2): 277-83, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17994553
20.
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Hum Mutat
; 28(2): 203-4, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221871