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Institute of Physiology ASCR, v.v.i.
Videnska 1083
CZ-14220 Prague 4
Czech Republic

Phone:     +420 24106 1111
                  +420 24447 2270
Fax:          +420 24106 2488

E-mail: fgubiomed.cas.cz

Achievements



Journal article: Nature Genetics

Molecular-genetic basis of severe inherited mitochondrial disease – neonatal encephalo-cardiomyopathy.

Studies on pathogenic mechanism of novel mitochondrial disorder resulted in identification of disease causing mutation in the TMEM70 gene which encodes a new type of ancillary factor essential for biogenesis of ATP synthase that is unique for higher eukaryotes. Results of collaborative studies performed at the Institute of Physiology ASCR, Institute of Inherited Metabolic Disorders and Pediatric Department of the 1st Medical Faculty CU were published in Nature Genetics.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.: TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat. Genet. 2008, 40, 1288-1290 IF= 25.55

Author: houstekbiomed.cas.cz
 




Review articles in prestige journal Nature Genetics
Identification of distribution and functional impact of DNA copy number variation in the rat

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Review articles in prestige journal Nature Genetics
Identification of osteoglycin (Ogn) as a genetic determinant predisposing to left ventricular hypertrophy in rats, mice, and humans

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Review articles in prestige journal Nature Genetics
Identification of single nucleotide polymorphisms and haplotype mapping in the rat

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Review articles in prestige journal Nature Genetics
Identification of renal Cd36 as a genetic determinant of blood pressure and risk for hypertension

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Article: Obesity
Chemical derivatives of docosahexaenoic acid (DHA) in the prevention and reversal of obesity in mice fed a high-fat diet

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Article: Diabetologia
n-3 fatty acids and rosiglitazone exerts additive effects on muscle glycogen synthesis in mice fed a high-fat diet

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Journal article: Proceedings of National Academy of Sciences of the USA
Risperidone and ritanserin but not haloperidol block effect of dizocilpine on the active allothetic place avoidance task

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Journal article: FASEB
In vivo content of mitochondrial ATP synthase is controlled by expression of the gene encoding hydrophobic subunit c.

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Review article: Oncogene
Current informations about the FOXO subgroup of forkhead transcription factors and mechanism of regulation

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Journal article: PLoS Computational Biology
Efficient coding principle confirmed for the sense of smell

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Journal article: Neurobiology of Aging
Evidence of impairment of muscarinic transmission in transgenic APPswe/PS1dE9 mouse model of Alzheimer´s disease.

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Journal article: American Journal of Physiology Endocrinology and Metabolism
Induction of muscle thermogenesis by high-fat diet in mice: association with obesity-resistance

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Journal article: Journal of Pineal Research
The role of proline residues in the structure and function of human MT2 receptor.

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EBBS Award for Dr. Stuchlik
European Brain and Behaviour Society 40th Anniversary Award.

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Gastroenterology
Insight into circadian clock within the rat colonic epithelial cells.

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Review article: Genome Research
Identification of a direct linkage of mitochondrial genome variation to risk factors for type 2 diabates in conplastic strains

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Journal of Biological Chemistry
N- terminal loop and wing W2- regions of forkhead domain are important for stability of the FoxO4-DBD-DNA complex.

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Journal article: Journal of Pharmacology and Experimental Therapeutics
Evidence of prolonged agonistic action of wash-resistantly bound M1 selective agonist xanomeline at M2 and M4 muscarinic receptor.

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Journal article: Journal of Pharmacology and Experimental Therapeutics
Evidence of the direct activation of Gq/11 and Gs G-proteins by agonist stimulation of the M2 muscarinic receptor.

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Journal article: Proceedings of National Academy of Sciences of the USA
Impaired hippocampal rhythmogenesis in a mouse model of mesial temporal lobe epilepsy.

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Journal article: Journal of Chromatography A
Study of posttranslational non-enzymatic modifications of collagen by CE–MS/MS, and HPLC–MS/MS

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