Annalisa Santucci Selected Research

Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)

1/2022	Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.
11/2021	A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria.
1/2021	Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
1/2021	Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
12/2020	Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
10/2020	Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.
10/2020	Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development.
1/2020	Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
1/2019	Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
1/2019	Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.

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Annalisa Santucci Research Topics

Disease

42	Alkaptonuria 01/2022 - 10/2010
14	Ochronosis 01/2021 - 10/2010
12	Neoplasms (Cancer) 07/2020 - 06/2006
10	Infections 01/2021 - 02/2006
10	Amyloidosis 12/2020 - 01/2011
9	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 10/2010
9	Osteosarcoma (Osteogenic Sarcoma) 07/2020 - 06/2006
8	Rare Diseases (Rare Disease) 01/2021 - 11/2012
6	Inflammation (Inflammations) 12/2020 - 12/2016
3	Neoplasm Metastasis (Metastasis) 07/2020 - 01/2018
3	Metabolic Diseases (Metabolic Disease) 01/2020 - 11/2015
3	Disease Progression 01/2020 - 12/2016
3	Joint Diseases (Joint Disease) 05/2017 - 02/2011
2	COVID-19 03/2022 - 01/2021
2	Cardiovascular Diseases (Cardiovascular Disease) 06/2020 - 01/2020
2	Tyrosinemias (Tyrosinemia) 01/2017 - 04/2016
2	Rheumatic Diseases (Rheumatism) 12/2016 - 11/2016
2	Hypersensitivity (Allergy) 11/2012 - 11/2010
2	Heart Failure 01/2012 - 01/2011
2	Alkaptonuric ochronosis 12/2011 - 10/2010
2	Stomach Neoplasms (Stomach Cancer) 04/2010 - 05/2009
1	Lung Diseases (Lung Disease) 01/2021
1	Premature Aging 01/2021
1	Knee Injuries (Knee Injury) 12/2020
1	Osteoarthritis 12/2020
1	Respiratory Tract Diseases (Respiratory Tract Disease) 06/2020
1	Stroke (Strokes) 06/2020
1	Hypertension (High Blood Pressure) 01/2020
1	Osteoporosis 01/2020
1	Chronic Renal Insufficiency 01/2020
1	Atherosclerosis 01/2020
1	Xerostomia 01/2020
1	Rett Syndrome (Rett's Disorder) 03/2019
1	Nervous System Diseases (Neurological Disorders) 01/2019
1	Renal Insufficiency (Renal Failure) 01/2019
1	Hyperuricemia 01/2019
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 10/2017
1	Arthritis (Polyarthritis) 01/2017
1	Systemic Scleroderma (Systemic Sclerosis) 01/2017
1	Wounds and Injuries (Trauma) 11/2016

Drug/Important Bio-Agent (IBA)

29	Homogentisic AcidIBA 01/2022 - 10/2010
25	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 01/2022 - 10/2010
17	EnzymesIBA 01/2022 - 09/2002
13	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2002
8	Melanins (Melanin)IBA 10/2020 - 10/2010
7	Tyrosine (L-Tyrosine)FDA Link 01/2019 - 02/2011
6	Biomarkers (Surrogate Marker)IBA 12/2020 - 12/2011
6	Serum Amyloid A Protein (Serum Amyloid A)IBA 12/2020 - 09/2013
5	nitisinone (Orfadin)FDA Link 01/2020 - 02/2016
5	Biological ProductsIBA 12/2018 - 03/2009
5	Amyloid (Amyloid Fibrils)IBA 02/2017 - 01/2011
4	Pharmaceutical PreparationsIBA 03/2022 - 04/2016
4	pyrimidineIBA 06/2014 - 11/2007
4	AntioxidantsIBA 09/2013 - 09/2002
3	Blood Proteins (Serum Proteins)IBA 01/2020 - 02/2002
3	src-Family KinasesIBA 11/2017 - 05/2008
3	Phenylalanine (L-Phenylalanine)FDA Link 12/2016 - 12/2011
3	CytokinesIBA 01/2014 - 09/2002
3	VaccinesIBA 11/2012 - 10/2007
3	AntigensIBA 02/2011 - 10/2007
2	Sulfhydryl Compounds (Thiols)IBA 01/2021 - 12/2011
2	PolymersIBA 01/2019 - 01/2017
2	Congo RedIBA 01/2014 - 11/2012
2	Anti-Bacterial Agents (Antibiotics)IBA 09/2012 - 07/2009
2	Atrial Natriuretic Factor (ANF)IBA 01/2012 - 01/2011
1	LigandsIBA 03/2022
1	DisulfidesIBA 01/2021
1	Glutathione (Reduced Glutathione)IBA 01/2021
1	Advanced Oxidation Protein Products (AOPP)IBA 12/2020
1	chitotriosidaseIBA 12/2020
1	Oxygen (Dioxygen)IBA 10/2020
1	SmokeIBA 06/2020
1	anethole (trans-anethole)IBA 01/2020
1	Protein Kinases (Protein Kinase)IBA 01/2020
1	Inosine Diphosphate (IDP)IBA 03/2019
1	Intrinsically Disordered ProteinsIBA 03/2019
1	Xanthine DehydrogenaseIBA 01/2019
1	HypoxanthineIBA 01/2019
1	Allopurinol (Remid)FDA LinkGeneric 01/2019
1	Uric Acid (Urate)IBA 01/2019
1	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 01/2019
1	immucillin GIBA 01/2019
1	XanthineIBA 01/2019
1	Methylnitronitrosoguanidine (MNNG)IBA 12/2018
1	quinone (benzoquinone)IBA 07/2017
1	Acetic Acid (Vinegar)FDA LinkGeneric 07/2017
1	Virulence Factors (Pathogenicity Factors)IBA 01/2017
1	ProteomeIBA 12/2016
1	Eosine Yellowish-(YS) (Eosin)IBA 11/2016
1	Hematoxylin (Haematoxylon)IBA 11/2016
1	HerbicidesIBA 04/2016
1	DioxygenasesIBA 04/2016
1	Dystroglycans (Dystroglycan)IBA 03/2016

Therapy/Procedure

6	Therapeutics 11/2021 - 11/2012
3	Precision Medicine 01/2021 - 04/2017
2	Drug Therapy (Chemotherapy) 01/2018 - 11/2017
1	Renal Replacement Therapy (Therapies, Renal Replacement) 01/2020
1	Transplantation 01/2020
1	Replacement Arthroplasty 11/2016