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1.
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Hum Mol Genet
; 31(11): 1884-1908, 2022 06 04.
Article
in English
| MEDLINE | ID: mdl-35094084
2.
Sex-Gender-Based Differences in Metabolic Diseases.
Handb Exp Pharmacol
; 282: 241-257, 2023.
Article
in English
| MEDLINE | ID: mdl-37528324
3.
ZSCAN4+ mouse embryonic stem cells have an oxidative and flexible metabolic profile.
EMBO Rep
; 21(6): e48942, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32424995
4.
Challenges in Metabolomics-Based Tests, Biomarkers Revealed by Metabolomic Analysis, and the Promise of the Application of Metabolomics in Precision Medicine.
Int J Mol Sci
; 23(9)2022 May 06.
Article
in English
| MEDLINE | ID: mdl-35563604
5.
COVIDomics: The Proteomic and Metabolomic Signatures of COVID-19.
Int J Mol Sci
; 23(5)2022 Feb 22.
Article
in English
| MEDLINE | ID: mdl-35269564
6.
Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.
Int J Mol Sci
; 23(16)2022 Aug 20.
Article
in English
| MEDLINE | ID: mdl-36012682
7.
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Mol Genet Metab
; 134(4): 287-300, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34799272
8.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Mol Genet Metab
; 133(2): 157-181, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33965309
9.
The evolving landscape of untargeted metabolomics.
Nutr Metab Cardiovasc Dis
; 31(6): 1645-1652, 2021 06 07.
Article
in English
| MEDLINE | ID: mdl-33895079
10.
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism.
Int J Mol Sci
; 22(17)2021 Sep 02.
Article
in English
| MEDLINE | ID: mdl-34502454
11.
Proteomic and Bioinformatic Investigation of Altered Pathways in Neuroglobin-Deficient Breast Cancer Cells.
Molecules
; 26(8)2021 Apr 20.
Article
in English
| MEDLINE | ID: mdl-33924212
12.
The saturation degree of fatty acids and their derived acylcarnitines determines the direct effect of metabolically active thyroid hormones on insulin sensitivity in skeletal muscle cells.
FASEB J
; 33(2): 1811-1823, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30204501
13.
Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies.
Nephrol Dial Transplant
; 35(11): 1853-1861, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-31219585
14.
Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism.
Int J Mol Sci
; 21(12)2020 Jun 12.
Article
in English
| MEDLINE | ID: mdl-32545699
15.
Influence of Sex on Urinary Organic Acids: A Cross-Sectional Study in Children.
Int J Mol Sci
; 21(2)2020 Jan 16.
Article
in English
| MEDLINE | ID: mdl-31963255
16.
Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
Int J Mol Sci
; 21(14)2020 Jul 15.
Article
in English
| MEDLINE | ID: mdl-32679819
17.
Human Serum Albumin Is an Essential Component of the Host Defense Mechanism Against Clostridium difficile Intoxication.
J Infect Dis
; 218(9): 1424-1435, 2018 09 22.
Article
in English
| MEDLINE | ID: mdl-29868851
18.
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
J Inherit Metab Dis
; 41(6): 985-995, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29435782
19.
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome.
Kidney Blood Press Res
; 43(2): 389-405, 2018.
Article
in English
| MEDLINE | ID: mdl-29539623
20.
Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.
Int J Mol Sci
; 19(11)2018 Nov 13.
Article
in English
| MEDLINE | ID: mdl-30428564