Grazia Isaya Selected Research

Mitochondrial Proteins (Mitochondrial Protein)

6/2015	PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
7/2013	Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.
8/2008	Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
4/2008	Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
10/2006	The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.
2/2006	Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
8/2005	Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
10/2004	The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
8/2003	Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation.
2/2002	Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.

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Grazia Isaya Research Topics

Disease

17	Friedreich Ataxia (Friedreich's Ataxia) 01/2017 - 02/2002
5	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017 - 08/2003
2	Iron Overload 01/2017 - 10/2004
2	Neoplasms (Cancer) 12/2008 - 09/2005
2	Cardiomyopathies (Cardiomyopathy) 11/2008 - 02/2006
2	Heart Diseases (Heart Disease) 04/2008 - 10/2006
1	Cerebellar Ataxia (Dysmetria) 06/2015
1	Cognitive Dysfunction 01/2014
1	Parkinson Disease (Parkinson's Disease) 01/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2008
1	Due To LAD Deficiency Congenital Infantile Lactic Acidosis 04/2007
1	Obesity 09/2005
1	Cardiomegaly (Heart Hypertrophy) 08/2005
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 08/2005
1	Ischemia 04/2005
1	Sideroblastic Anemia 10/2004
1	Ataxia (Dyssynergia) 12/2003
1	Mitochondrial Diseases (Mitochondrial Disease) 09/2002

Drug/Important Bio-Agent (IBA)

17	FrataxinIBA 01/2017 - 02/2002
10	Mitochondrial Proteins (Mitochondrial Protein)IBA 06/2015 - 02/2002
9	IronIBA 01/2017 - 02/2002
4	SulfurIBA 01/2017 - 12/2010
3	Proteins (Proteins, Gene)FDA Link 06/2015 - 02/2002
2	Aconitate Hydratase (Aconitase)IBA 01/2017 - 04/2005
2	Protein Isoforms (Isoforms)IBA 02/2013 - 12/2010
1	Heme (Haem)IBA 01/2017
1	Iron-Binding ProteinsIBA 12/2010
1	Genetic Markers (Genetic Marker)IBA 12/2008
1	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 09/2005
1	Free RadicalsIBA 04/2005
1	Mitochondrial DNA (mtDNA)IBA 10/2004
1	EnzymesIBA 09/2002

Therapy/Procedure

1	Therapeutics 04/2007