Michaela Brunner-Krainz
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Explore the profile of Michaela Brunner-Krainz including associated specialties, affiliations and a list of published articles.
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16
Citations
270
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Recent Articles
1.
Bolsterli B, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, et al.
Nutrients
. 2022 Sep;
14(17).
PMID: 36079864
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with...
2.
Grunert S, Derks T, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, et al.
Genet Med
. 2022 May;
24(8):1781-1788.
PMID: 35503103
Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). Methods: This is an...
3.
Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, et al.
J Inherit Metab Dis
. 2021 Oct;
45(2):144-156.
PMID: 34595757
Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage...
4.
Herle M, Brunner-Krainz M, Karall D, Goeschl B, Moslinger D, Zobel J, et al.
Orphanet J Rare Dis
. 2021 Aug;
16(1):367.
PMID: 34412683
Background: In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive...
5.
Beghini M, Resch F, Moslinger D, Konstantopoulou V, Karall D, Scholl-Burgi S, et al.
Mol Genet Metab
. 2021 Jun;
133(3):257-260.
PMID: 34083143
Background: High rates of lost to follow-up (LTFU) adult patients are a major concern in the long-term management of phenylketonuria (PKU). To address this issue, we designed the project "Backtoclinic"...
6.
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Kostl G, Feichtinger R, et al.
J Pediatr Gastroenterol Nutr
. 2018 Dec;
68(1):e1-e6.
PMID: 30589726
Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which...
7.
OByrne J, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, et al.
Mol Genet Metab
. 2018 Jan;
123(1):28-42.
PMID: 29331171
Background: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization...
8.
Fabian E, Schiller D, Toplak H, Brunner-Krainz M, Fazekas F, Schoefl R, et al.
Wien Klin Wochenschr
. 2017 Nov;
130(3-4):151-160.
PMID: 29164318
No abstract available.
9.
Feichtinger R, Brunner-Krainz M, Alhaddad B, Wortmann S, Kovacs-Nagy R, Stojakovic T, et al.
Oxid Med Cell Longev
. 2017 Aug;
2017:7202589.
PMID: 28804536
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five...
10.
Strickland A, Schabhuttl M, Offenbacher H, Synofzik M, Hauser N, Brunner-Krainz M, et al.
J Neurol
. 2015 Jun;
262(9):2124-34.
PMID: 26100331
Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including...