Search details
1.
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Int J Mol Sci
; 21(11)2020 May 28.
Article
in English
| MEDLINE | ID: mdl-32481712
2.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Am J Hum Genet
; 96(2): 258-65, 2015 Feb 05.
Article
in English
| MEDLINE | ID: mdl-25597511
3.
Metformin targets brown adipose tissue in vivo and reduces oxygen consumption in vitro.
Diabetes Obes Metab
; 20(9): 2264-2273, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29752759
4.
Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system.
Cell Mol Life Sci
; 73(13): 2543-63, 2016 07.
Article
in English
| MEDLINE | ID: mdl-26755436
5.
Do lamin A and lamin C have unique roles?
Chromosoma
; 124(1): 1-12, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25283634
6.
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
Hum Mol Genet
; 21(15): 3435-48, 2012 Aug 01.
Article
in English
| MEDLINE | ID: mdl-22611163
7.
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 111(3): 360-368, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24485985
8.
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.
Exp Cell Res
; 319(19): 3010-9, 2013 Nov 15.
Article
in English
| MEDLINE | ID: mdl-24001739
9.
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Hum Mutat
; 34(5): 697-705, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23381804
10.
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.
Neurobiol Dis
; 54: 12-23, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23466696
11.
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Biochim Biophys Acta
; 1812(12): 1658-63, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21968293
12.
MCAD deficiency in Denmark.
Mol Genet Metab
; 106(2): 175-88, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22542437
13.
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
J Inherit Metab Dis
; 35(5): 787-96, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22231382
14.
Clinical characteristics and symptom duration among outpatients with COVID-19.
Am J Infect Control
; 50(4): 383-389, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34780804
15.
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation.
Transl Psychiatry
; 12(1): 319, 2022 08 08.
Article
in English
| MEDLINE | ID: mdl-35941107
16.
A genome-wide CRISPR-Cas9 knockout screen identifies novel PARP inhibitor resistance genes in prostate cancer.
Oncogene
; 41(37): 4271-4281, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35933519
17.
Paediatric Strategy Forum for medicinal product development of chimeric antigen receptor T-cells in children and adolescents with cancer: ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.
Eur J Cancer
; 160: 112-133, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34840026
18.
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Biochim Biophys Acta
; 1802(11): 1070-7, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20674745
19.
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Am J Hum Genet
; 83(1): 30-42, 2008 Jul.
Article
in English
| MEDLINE | ID: mdl-18571143
20.
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
Gene
; 776: 145407, 2021 Apr 15.
Article
in English
| MEDLINE | ID: mdl-33450351