Roza Kucharczyk Selected Research

Neuropathy ataxia and retinitis pigmentosa

1/2019	Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation.
7/2011	A yeast-based assay identifies drugs active against human mitochondrial disorders.
5/2009	Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.

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Roza Kucharczyk Research Topics

Disease

4	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 07/2011
3	Neoplasms (Cancer) 02/2020 - 01/2016
3	Neuropathy ataxia and retinitis pigmentosa 01/2019 - 05/2009
2	Ataxia (Dyssynergia) 01/2023 - 05/2014
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 05/2014
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2023 - 05/2014
2	Thyroid Neoplasms (Thyroid Cancer) 02/2020 - 01/2018
2	Leigh Disease (Leigh's Disease) 05/2014 - 08/2009
2	Nervous System Diseases (Neurological Disorders) 01/2013 - 06/2010
1	Carcinogenesis 01/2018
1	Ataxia Telangiectasia (Louis Bar Syndrome) 05/2014
1	Maternally Inherited Leigh Syndrome 05/2009

Drug/Important Bio-Agent (IBA)

9	Adenosine Triphosphate (ATP)IBA 01/2023 - 08/2009
6	Mitochondrial DNA (mtDNA)IBA 01/2023 - 05/2009
2	CalciumIBA 02/2020 - 01/2018
1	Arginine (L-Arginine)FDA Link 01/2019
1	Leucine (L-Leucine)FDA Link 01/2019
1	Amino Acids FDA Link 01/2019
1	IonsIBA 01/2018
1	PorinsIBA 01/2018
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 01/2018
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 12/2014
1	Protons (Proton)IBA 01/2013
1	EnzymesIBA 06/2010

Therapy/Procedure

1	Therapeutics 06/2015