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1.
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Pediatr Res
; 88(4): 556-564, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32045933
2.
Metformin targets brown adipose tissue in vivo and reduces oxygen consumption in vitro.
Diabetes Obes Metab
; 20(9): 2264-2273, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29752759
3.
GIP reduces osteoclast activity and improves osteoblast survival in primary human bone cells.
Eur J Endocrinol
; 188(1)2023 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36747334
4.
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation.
Transl Psychiatry
; 12(1): 319, 2022 08 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35941107
5.
Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study.
Biomolecules
; 11(7)2021 06 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34209852
6.
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
J Inherit Metab Dis
; 33 Suppl 3: S191-8, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20431954
7.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32532876
8.
A Cell Model for HSP60 Deficiencies: Modeling Different Levels of Chaperonopathies Leading to Oxidative Stress and Mitochondrial Dysfunction.
Methods Mol Biol
; 1873: 225-239, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30341613
9.
Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria.
Biochim Biophys Acta Mol Basis Dis
; 1865(1): 126-135, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30391543
10.
[Myalgic encephalomyelitis or chronic fatigue syndrome].
Ugeskr Laeger
; 181(24)2019 Jun 10.
Artículo
en Da
| MEDLINE | ID: mdl-31267953
11.
Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency.
Stem Cells Dev
; 26(3): 166-176, 2017 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27784195
12.
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.
Front Mol Biosci
; 3: 49, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27630992
13.
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.
JIMD Rep
; 27: 17-26, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26404456
14.
Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Front Mol Biosci
; 3: 65, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27774450
15.
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
Mol Genet Genomic Med
; 2(5): 383-92, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25333063
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