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» Authors » Dagmar Hahn

Dagmar Hahn

Explore the profile of Dagmar Hahn including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 19
Citations 360
Followers 0
Related Specialties
Biochemistry
Genetics
Neurology
Top 10 Co-Authors
Jean-Marc Nuoffer
Andre Schaller
Erwin E Sterchi
Christopher B Jackson
Sabina Gallati
Partha Sen
Ursula Luginbuehl
Buford L Nichols
Matthias Gautschi
Boris Leuenberger
Published In
J Biol Chem
J Pediatr Gastroenterol Nutr
Proc Natl Acad Sci U S A
BMC Neurol
Hepatology
Affiliations
Soon will be listed here.
Recent Articles
1.
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
Jackson C, Hahn D, Schroter B, Richter U, Battersby B, Schmitt-Mechelke T, et al.
Eur J Med Genet . 2017 Apr; 60(6):345-351. PMID: 28412374
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the...
2.
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
Courage C, Jackson C, Hahn D, Euro L, Nuoffer J, Gallati S, et al.
Am J Med Genet A . 2016 Sep; 173(1):225-230. PMID: 27683074
Isolated defects of the mitochondrial respiratory complex II (succinate dehydrogenase, SDH) are rare, accounting for approximately 2% of all respiratory chain deficiency diagnoses. Here, we report clinical and molecular investigations...
3.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Haack T, Jackson C, Murayama K, Kremer L, Schaller A, Kotzaeridou U, et al.
Ann Clin Transl Neurol . 2015 May; 2(5):492-509. PMID: 26000322
Objective: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe...
4.
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, et al.
Mol Genet Metab . 2015 Feb; 114(3):438-44. PMID: 25639153
Fatal hyperammonemia secondary to chemotherapy for hematological malignancies or following bone marrow transplantation has been described in few patients so far. In these, the pathogenesis of hyperammonemia remained unclear and...
5.
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype
Jackson C, Neuwirth C, Hahn D, Nuoffer J, Frank S, Gallati S, et al.
Br J Ophthalmol . 2014 Jul; 98(10):1453-9. PMID: 25034047
Background/aim: To investigate the underlying pathomechanism in a 33-year-old female Caucasian patient presenting with chronic progressive external ophthalmoplegia (CPEO) plus symptoms. Methods: Histochemical analysis of skeletal muscle and biochemical measurements...
6.
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation
Schild C, Hahn D, Schaller A, Jackson C, Rothen-Rutishauser B, Mirkovitch J, et al.
Amino Acids . 2014 Apr; 46(7):1775-83. PMID: 24710704
Pentatricopeptide repeat domain protein 1 (PTCD1) is a novel human protein that was recently shown to decrease the levels of mitochondrial leucine tRNAs. The physiological role of this regulation, however,...
7.
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Jackson C, Nuoffer J, Hahn D, Prokisch H, Haberberger B, Gautschi M, et al.
J Med Genet . 2013 Dec; 51(3):170-5. PMID: 24367056
Background: Defects of the mitochondrial respiratory chain complex II (succinate dehydrogenase (SDH) complex) are extremely rare. Of the four nuclear encoded proteins composing complex II, only mutations in the 70...
8.
Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function
Martin J, Maurhofer O, Bellance N, Benard G, Graber F, Hahn D, et al.
Hepatology . 2012 Sep; 57(5):2037-48. PMID: 22961760
Unlabelled: The histidine triad nucleotide-binding (HINT2) protein is a mitochondrial adenosine phosphoramidase expressed in the liver and pancreas. Its physiological function is unknown. To elucidate the role of HINT2 in...
9.
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain
Hirsch A, Hahn D, Kempna P, Hofer G, Nuoffer J, Mullis P, et al.
Endocrinology . 2012 Jul; 153(9):4354-66. PMID: 22778212
Metformin is treatment of choice for the metabolic consequences seen in polycystic ovary syndrome for its insulin-sensitizing and androgen-lowering properties. Yet, the mechanism of action remains unclear. Two potential targets...
10.
Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells
Hirsch A, Hahn D, Kempna P, Hofer G, Mullis P, Nuoffer J, et al.
PLoS One . 2012 Feb; 7(1):e30956. PMID: 22295121
Regulation of human androgen biosynthesis is poorly understood. However, detailed knowledge is needed to eventually solve disorders with androgen dysbalance. We showed that starvation growth conditions shift steroidogenesis of human...