Andrea Ballabio Selected Research

Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

1/2018	Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
12/2014	A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
12/2014	Multiple sulfatase deficiency with neonatal manifestation.
7/2014	Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
12/2012	Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
8/2012	Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
4/2012	Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
5/2011	Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.
2/2009	Self-eating in skeletal development: implications for lysosomal storage disorders.
9/2008	Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Andrea Ballabio Research Topics

Disease

18	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 01/2018 - 05/2003
11	Neoplasms (Cancer) 01/2022 - 06/2013
10	Starvation 01/2020 - 03/2012
7	Inflammation (Inflammations) 01/2022 - 03/2007
7	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2018 - 03/2007
6	Ocular Albinism type 1 01/2017 - 05/2002
5	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2021 - 05/2007
5	Mucopolysaccharidoses 01/2021 - 05/2007
5	Glycogen Storage Disease Type II (Pompe's Disease) 11/2017 - 03/2007
5	Muscular Diseases (Myopathy) 11/2017 - 03/2007
4	Fibrosis (Cirrhosis) 01/2022 - 07/2013
4	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2020 - 01/2008
4	Parkinson Disease (Parkinson's Disease) 01/2019 - 04/2016
3	Liver Diseases (Liver Disease) 01/2022 - 03/2013
3	Renal Cell Carcinoma (Grawitz Tumor) 01/2019 - 09/2016
3	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2018 - 03/2003
3	Inborn Genetic Diseases (Disease, Hereditary) 09/2010 - 08/2004
3	Albinism 12/2005 - 08/2004
2	Carcinogenesis 01/2022 - 01/2021
2	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 10/2021 - 01/2015
2	Alzheimer Disease (Alzheimer's Disease) 10/2021 - 04/2016
2	Genetic Translocation (Chromosomal Translocation) 01/2019 - 09/2016
2	Melanoma (Melanoma, Malignant) 01/2019 - 01/2017
2	Atherosclerosis 01/2017 - 09/2014
2	Huntington Disease (Huntington's Disease) 04/2016 - 07/2009
2	Necrosis 06/2013 - 11/2006
2	Rheumatic Diseases (Rheumatism) 11/2011 - 09/2009
2	Pneumonia (Pneumonitis) 01/2011 - 09/2010
2	Cystic Fibrosis (Mucoviscidosis) 01/2011 - 09/2010
2	Hereditary Spastic Paraplegia 11/2003 - 01/2002
1	Hepatocellular Carcinoma (Hepatoma) 01/2022
1	Triple Negative Breast Neoplasms 12/2021
1	Neuroinflammatory Diseases 10/2021
1	Tauopathies 10/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Dementia (Dementias) 01/2021
1	Neoplasm Metastasis (Metastasis) 01/2021
1	Tuberculosis (Tuberculoses) 01/2020
1	Cysts 01/2020
1	Retinal Degeneration 01/2020
1	Birt-Hogg-Dube Syndrome 01/2020
1	Heart Failure 11/2019

Drug/Important Bio-Agent (IBA)

18	SulfatasesIBA 01/2018 - 05/2003
17	Transcription Factors (Transcription Factor)IBA 01/2022 - 05/2013
15	Proteins (Proteins, Gene)FDA Link 01/2020 - 01/2002
8	EnzymesIBA 01/2018 - 04/2006
7	Mechanistic Target of Rapamycin Complex 1IBA 01/2020 - 03/2012
6	GlycosaminoglycansIBA 12/2014 - 05/2007
5	Polytetrafluoroethylene (Teflon)FDA Link 10/2020 - 09/2016
5	LipidsIBA 12/2018 - 06/2013
4	Amino Acids FDA Link 01/2022 - 03/2012
4	GlycogenIBA 11/2017 - 03/2007
4	Protein AggregatesIBA 01/2017 - 01/2008
4	Lysergic Acid Diethylamide (LSD)IBA 01/2015 - 04/2012
3	CholesterolIBA 11/2020 - 09/2014
3	GTP Phosphohydrolases (GTPases)IBA 01/2019 - 03/2012
3	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 06/2014 - 11/2007
3	Retinaldehyde (Retinal)IBA 10/2005 - 05/2002
2	Proteasome InhibitorsIBA 01/2022 - 01/2019
2	Oncogene Proteins (Oncogene Protein)IBA 01/2022 - 01/2021
2	Pharmaceutical PreparationsIBA 10/2021 - 06/2014
2	Heparitin Sulfate (Heparan Sulfate)IBA 01/2021 - 11/2007
2	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 01/2016
2	Sirolimus (Rapamycin)FDA Link 01/2019 - 01/2018
2	Monophenol Monooxygenase (Tyrosinase)IBA 01/2019 - 12/2005
2	Phosphotransferases (Kinase)IBA 01/2019 - 01/2016
2	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2017 - 11/2008
2	N-formylglycineIBA 12/2014 - 05/2007
2	alpha-Glucosidases (Acid Maltase)IBA 05/2013 - 03/2007
2	AutoantibodiesIBA 11/2011 - 09/2009
2	Antinuclear AntibodiesIBA 11/2011 - 09/2009
2	DNA (Deoxyribonucleic Acid)IBA 11/2011 - 09/2009
2	Nuclear Antigens (Extractable Nuclear Antigens)IBA 11/2011 - 09/2009
2	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 01/2011 - 09/2010
2	miglustat (Zavesca)FDA Link 03/2007 - 03/2007
2	Imino SugarsIBA 03/2007 - 03/2007
2	HydrolasesIBA 03/2007 - 03/2007
2	Melanins (Melanin)IBA 12/2005 - 08/2004
1	GlypicansIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Ethanol (Ethyl Alcohol)IBA 01/2022
1	Cyclophosphamide (Cytoxan)FDA LinkGeneric 12/2021
1	Tamoxifen FDA LinkGeneric 10/2021
1	tau Proteins (tau Protein)IBA 10/2021
1	CalciumIBA 01/2021
1	Biological ProductsIBA 01/2021
1	Therapeutic UsesIBA 01/2021
1	Haloperidol (Haldol)FDA LinkGeneric 01/2021
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2021
1	SCH 23390IBA 01/2021
1	Dopamine (Intropin)FDA LinkGeneric 01/2021
1	Chloroquine (Aralen)FDA LinkGeneric 01/2020
1	ezrinIBA 01/2020
1	Protein Phosphatase 1IBA 01/2020
1	ricolinostatIBA 01/2020
1	Rifampin (Rifampicin)FDA LinkGeneric 01/2020
1	Glutamine (L-Glutamine)FDA Link 12/2019
1	CeruletideIBA 11/2019

Therapy/Procedure

12	Therapeutics 01/2021 - 03/2007
2	Liver Transplantation 01/2017 - 03/2013